Original post on Forbes by Dan Munro, 12/2/13
That didn’t take long. Quite literally about 5 days from the date of the FDA’s warning letter to 23andMe (11/22) and the filing of a class action law suit in the Southern District Court of California (11/27).
While the merits of the legal case are best suited for legal interpretation and debate, the damage to the marketing of general purpose Personal Genome Services (by 23andMe or any other company) could be significant. As stated in the filing:
“NATURE OF THE ACTION”
1. This proposed class action alleges that 23andMe, Inc. (“Defendant”) falsely and misleadingly advertises their Saliva Collection Kit/Personal Genome Service (“PGS”) as providing “health reports on 240+ conditions and traits”, “drug response”, “carrier status”, among other things, when there is no analytical or clinical validation for the PGS for its advertised uses.
2. In addition, Defendant uses the information it collects from the DNA tests consumers pay to take to generate databases and statistical information that it then markets to other sources and the scientific community in general, even though the test results are meaningless.
3. Despite Defendant’s failure to receive marketing authorization or approval from the Food and Drug Administration (“FDA”), Defendant has slowly increased its list of indications for the PGS, and initiated new marketing campaigns, including television advertisements in violation of the Federal Food, Drug and Cosmetic Act (“FDC Act”).
It’s that second bullet point that’s at the very heart of the FDA filing and subsequent debate. Are the test results “meaningless?” Absent the scientific rigor of an FDA process – how do we as consumers know?
In light of all the recent publicity, several stories have also surfaced that call into question that exact point.
“The point is that if I cannot trust 23andMe to tell me much of value about my risk factor for Celiac, or my ability to digest dairy products or coffee, or to get my son’s results right, can I trust it for anything? What should I do if it tells me that I am at higher risk of developing Alzheimer’s or lung cancer? The answer is … not lose any sleep about it.” Bernard Munos – Forbes Contributor – 11/29/2013 (23andMe: A Fumbling Gene In It’s Corporate DNA)
“I sent a support request to 23andMe including my research and conclusions (this would be called a “bug report” in software engineering). After a few days of waiting, 23andMe confirmed the bug and apologized. So the bug was not inside of me, but in the algorithm. An algorithm can be fixed easily, unlike my genetic code.” Lukas F. Hartmann – 11/26/2013 (Why 23andMe Might Have The FDA Worried: It Wrongly Told Me I Might Die Young)
The controversy extends further back too. This was filed in April of 2011:
My suggestion is that unless you have a specific reason behind your motivation, don’t bother with genetic testing services, especially if you’re not of European ancestry and you’re under the age of 30. I can see how it may be useful as a preemptive measure for people with a family history of a debilitating disease, or for people who are seeking out long-lost relatives. But for the rest of us, the money is probably better spent towards a gym membership, more fruits and vegetables and health/life insurance. And not having to worry for the rest of your life about something that may or may not happen to you? That’s priceless. Elly Hart – Night Editor, Allure Media (Why 23andMe Genetic Testing Is A Waste of Time and Money)
Ms. Hart also points out a legal dilemma that has yet to be tested. The Genetic Information Nondiscrimination Act (GINA – 2008 here) specifically prohibits the use of genetic information in health insurance and employment. GINA has no such applicability to Disability or Life Insurance as noted by this repetitive 23andMe disclaimer: “GINA does not cover life or disability insurance providers” (8 occurrences here).
All of which is why the FDA was correct in issuing their warning. It’s one thing to believe in the false hopes and misleading promises of dietary supplements. It’s something else entirely when an email arrives warning you of a serious health condition or genetic risk lurking in your DNA. For anything beyond ancestral curiosity, personal genetic data definitely needs the full rigor of scientific review and accuracy.
Click here to see the original article on Forbes.com
Read more!
Wednesday, December 4, 2013
Tuesday, December 3, 2013
Ask Well: Genetic Testing for Breast Cancer
Original post by Roni Caryn Rabyn, NYTimes, 11/27/13
Some Israeli doctors want Israel to conduct a national screening campaign to test all Jewish Israeli women of Ashkenazi descent for harmful genetic mutations that heighten the risk of breast and ovarian cancer. The debate is detailed in the article, “In Israel, a Push to Screen for Cancer Gene Leaves Many Conflicted.”
Most American Jews are Ashkenazi, meaning their families originated in Eastern and Central Europe and they may be wondering if they should seek genetic testing.
Here are answers to some questions about genetic testing for the three common harmful mutations in the BRCA1 and BRCA2 genes.
Q: I’m an Ashkenazi Jewish woman. Should I be tested for the mutations in the BRCA1 and BRCA2 genes?
A: If you have been diagnosed with breast or ovarian cancer or have a family history of breast or ovarian cancer, you may want to be tested for one of the mutations in the BRCA1 and BRCA2 genes that are common among Ashkenazi Jews. Knowing your carrier status may help you evaluate your future risk and can be useful information for other family members. If you have cancer, the information can help shape treatment and alert you to other risks (such as a heightened risk for ovarian cancer if you have breast cancer).
While some Israeli doctors want to expand testing and make it routine, general practice in the United States has not encouraged genetic testing for individuals who are cancer-free and don’t have a family history.
But for Ashkenazi Jews, the bar for genetic testing is not as high as for the general population, said Dr. Susan M. Domchek, executive director of the Basser Research Center for BRCA at the University of Pennsylvania’s Abramson Cancer Center.
“If you’re Jewish, we have a low threshold for testing,” Dr. Domchek said. “If you have an aunt who had breast cancer at 51 and you want testing, that’s O.K.”
Keep in mind that the odds of testing positive are fairly low — only one in 40 Ashkenazi Jews, or 2.5 percent, carry the mutation. That is higher than the rate in the general population, in which fewer than 1 percent carry these mutations, but it means you have a 97.5 percent chance of testing negative.
Remember that a family history includes relatives on both sides of the family, including your father’s side.
“People ignore the father’s side of the family, and they shouldn’t,” said Dr. Domchek. “Women will come to us and say there’s no family history, but actually the dad was Ashkenazi Jewish and the dad’s mother had breast cancer at 40 – that’s a significant family history.”
Q: What if I don’t know much about my family history?
A: Many Ashkenazi Jews have limited information about their family because they lost relatives in the Holocaust. Others come from small families that don’t provide a lot of clues, and families everywhere become estranged and keep secrets. One reason Israeli doctors want to do broad-based screening of Ashkenazi Jewish women is so that individuals are not dependent on family members for information.
Nevertheless, Dr. Domchek emphasized that there is still some uncertainty about what it means if a woman tests positive for a mutation and no one in her family has had cancer. Research is trying to resolve questions about what the risk is in these cases. “It’s a challenge to give an individualized risk assessment,” she said.
If you are concerned because you have limited information about your family, genetic counseling may help clarify whether you should pursue testing.
Q: What does the test consist of? How much does it cost? Will insurance cover it?
A: The genetic test is a blood test, often accompanied by genetic counseling. Testing for the three specific BRCA1 and BRCA2 mutations common among Ashkenazi Jews generally costs between $300 and $500 for all three. Insurance coverage varies and may be more likely to pick up the cost if the individual has a clear family history of breast or ovarian cancer. Genetic testing of men who do not have cancer is generally not covered, Dr. Domchek said.
Q: What does a positive result mean?
A: A woman who tests positive for a mutation will be given a range of risk for developing breast cancer and ovarian cancer during her lifetime that takes her family history into account, but assessing individual risk is a challenge, Dr. Domchek said. “If the only history is a mother who developed breast cancer at 55 and the mother has four sisters and no one else has cancer of any sort,” then the woman’s risk will be deemed lower than if several of her aunts have cancer, she explained.
While about 12 percent of women in the general population will develop breast cancer at some point in their lives, 55 percent to 65 percent of women with a harmful BRCA1 mutation and around 45 percent of those with a harmful BRCA2 mutation will develop breast cancer by age 70, according to the National Cancer Institute. While about 1.4 percent of women in the general population will develop ovarian cancer, some 39 percent of carriers of a harmful BRCA1 mutation and 11 percent to 17 percent of carriers of a harmful BRCA2 mutation will develop ovarian cancer by age 70.
Q: What factors should I weigh when considering prophylactic surgery?
A: Choosing prophylactic surgery is a difficult and highly personal decision. Many doctors emphasize the importance of removing the ovaries, because the mutations increase the risk of ovarian cancer, which is harder than breast cancer to detect at an early stage. Israeli physicians urge women to undergo ovary removal as soon as they have had their children, preferably by the age of 40. Removing the ovaries also reduces the risk of breast cancer considerably.
The choice of whether to have a prophylactic double mastectomy is complex. Close monitoring and surveillance of the breasts with frequent magnetic resonance imaging scans and clinical breast exams is another option, doctors say. Over time, however, doctors say many women tire of the constant checkups, especially if they are called back for frequent biopsies and some eventually opt for mastectomies as a result.
Both oophorectomy and mastectomy are difficult operations that have serious side effects. Breast reconstruction often leads to infections and other complications and many women are disappointed by the look and feel of their new breasts. Removing the ovaries robs women of important hormones and plunges them into menopause overnight, leading to hot flashes, reduced sex drive and heightened risks of heart disease and bone loss. Hormone replacement treatment or other medication is often required.
Click here to read the original post from the NYTimes Read more!
Some Israeli doctors want Israel to conduct a national screening campaign to test all Jewish Israeli women of Ashkenazi descent for harmful genetic mutations that heighten the risk of breast and ovarian cancer. The debate is detailed in the article, “In Israel, a Push to Screen for Cancer Gene Leaves Many Conflicted.”
Most American Jews are Ashkenazi, meaning their families originated in Eastern and Central Europe and they may be wondering if they should seek genetic testing.
Here are answers to some questions about genetic testing for the three common harmful mutations in the BRCA1 and BRCA2 genes.
Q: I’m an Ashkenazi Jewish woman. Should I be tested for the mutations in the BRCA1 and BRCA2 genes?
A: If you have been diagnosed with breast or ovarian cancer or have a family history of breast or ovarian cancer, you may want to be tested for one of the mutations in the BRCA1 and BRCA2 genes that are common among Ashkenazi Jews. Knowing your carrier status may help you evaluate your future risk and can be useful information for other family members. If you have cancer, the information can help shape treatment and alert you to other risks (such as a heightened risk for ovarian cancer if you have breast cancer).
While some Israeli doctors want to expand testing and make it routine, general practice in the United States has not encouraged genetic testing for individuals who are cancer-free and don’t have a family history.
But for Ashkenazi Jews, the bar for genetic testing is not as high as for the general population, said Dr. Susan M. Domchek, executive director of the Basser Research Center for BRCA at the University of Pennsylvania’s Abramson Cancer Center.
“If you’re Jewish, we have a low threshold for testing,” Dr. Domchek said. “If you have an aunt who had breast cancer at 51 and you want testing, that’s O.K.”
Keep in mind that the odds of testing positive are fairly low — only one in 40 Ashkenazi Jews, or 2.5 percent, carry the mutation. That is higher than the rate in the general population, in which fewer than 1 percent carry these mutations, but it means you have a 97.5 percent chance of testing negative.
Remember that a family history includes relatives on both sides of the family, including your father’s side.
“People ignore the father’s side of the family, and they shouldn’t,” said Dr. Domchek. “Women will come to us and say there’s no family history, but actually the dad was Ashkenazi Jewish and the dad’s mother had breast cancer at 40 – that’s a significant family history.”
Q: What if I don’t know much about my family history?
A: Many Ashkenazi Jews have limited information about their family because they lost relatives in the Holocaust. Others come from small families that don’t provide a lot of clues, and families everywhere become estranged and keep secrets. One reason Israeli doctors want to do broad-based screening of Ashkenazi Jewish women is so that individuals are not dependent on family members for information.
Nevertheless, Dr. Domchek emphasized that there is still some uncertainty about what it means if a woman tests positive for a mutation and no one in her family has had cancer. Research is trying to resolve questions about what the risk is in these cases. “It’s a challenge to give an individualized risk assessment,” she said.
If you are concerned because you have limited information about your family, genetic counseling may help clarify whether you should pursue testing.
Q: What does the test consist of? How much does it cost? Will insurance cover it?
A: The genetic test is a blood test, often accompanied by genetic counseling. Testing for the three specific BRCA1 and BRCA2 mutations common among Ashkenazi Jews generally costs between $300 and $500 for all three. Insurance coverage varies and may be more likely to pick up the cost if the individual has a clear family history of breast or ovarian cancer. Genetic testing of men who do not have cancer is generally not covered, Dr. Domchek said.
Q: What does a positive result mean?
A: A woman who tests positive for a mutation will be given a range of risk for developing breast cancer and ovarian cancer during her lifetime that takes her family history into account, but assessing individual risk is a challenge, Dr. Domchek said. “If the only history is a mother who developed breast cancer at 55 and the mother has four sisters and no one else has cancer of any sort,” then the woman’s risk will be deemed lower than if several of her aunts have cancer, she explained.
While about 12 percent of women in the general population will develop breast cancer at some point in their lives, 55 percent to 65 percent of women with a harmful BRCA1 mutation and around 45 percent of those with a harmful BRCA2 mutation will develop breast cancer by age 70, according to the National Cancer Institute. While about 1.4 percent of women in the general population will develop ovarian cancer, some 39 percent of carriers of a harmful BRCA1 mutation and 11 percent to 17 percent of carriers of a harmful BRCA2 mutation will develop ovarian cancer by age 70.
Q: What factors should I weigh when considering prophylactic surgery?
A: Choosing prophylactic surgery is a difficult and highly personal decision. Many doctors emphasize the importance of removing the ovaries, because the mutations increase the risk of ovarian cancer, which is harder than breast cancer to detect at an early stage. Israeli physicians urge women to undergo ovary removal as soon as they have had their children, preferably by the age of 40. Removing the ovaries also reduces the risk of breast cancer considerably.
The choice of whether to have a prophylactic double mastectomy is complex. Close monitoring and surveillance of the breasts with frequent magnetic resonance imaging scans and clinical breast exams is another option, doctors say. Over time, however, doctors say many women tire of the constant checkups, especially if they are called back for frequent biopsies and some eventually opt for mastectomies as a result.
Both oophorectomy and mastectomy are difficult operations that have serious side effects. Breast reconstruction often leads to infections and other complications and many women are disappointed by the look and feel of their new breasts. Removing the ovaries robs women of important hormones and plunges them into menopause overnight, leading to hot flashes, reduced sex drive and heightened risks of heart disease and bone loss. Hormone replacement treatment or other medication is often required.
Click here to read the original post from the NYTimes Read more!
Monday, December 2, 2013
Genetic Testing Should Adhere to Medical, Not Business, Ethics: FDA's Regulation of 23andMe Is a Welcome Move for Consumers
Original post by Karuna Jaggar on HuffPost Business, 12/1/13
This week the Food and Drug Administration (FDA) issued a warning letter to the direct-to-consumer genetic testing company 23andMe, demanding that it immediately stop marketing and selling its DNA testing service until it receives approval from the agency tasked with regulating medical tests and devices. In what has widely been called a "scathing" letter, the FDA said that 23andMe had failed to show that "the firm has analytically or clinically validated the [23andMe Saliva Collection Kit and Personal Genome Service] for its intended uses" and expresses concern "about the public health consequences of inaccurate results from the P.G.S. device."
It sounds temptingly light-hearted to find out about the percentage of genes you share with a Neanderthal, your earwax type, or why you love Brussels sprouts while others can't stand them. But 23andMe's test doesn't stop there. It claims to provide health reports on some 254 diseases and conditions. Some of the information the company provides, based on the saliva you send them, includes how your body may metabolizes certain pharmaceutical drugs, an individual's carrier status, and risk of disease such as Parkinson's, schizophrenia, sudden cardiac arrest, scoliosis, and Amyotrophic Lateral Sclerosis (ALS). Hardly light-hearted and recreational given the potentially life-altering implications of such information.
Genetic testing is complex and raises a wide range of medical, ethical, and scientific issues. And no one knows this better than the families who have cancer-linked mutations on the BRCA1 or BRCA2 genes, commonly known as the "breast cancer genes." Some mutations of the BRCA genes are known to increase people's risk of breast, ovarian, and other cancers. Other mutations of the BRCA genes don't increase people's risk of these cancers. And we haven't yet learned what some other rare BRCA mutations mean for a person's future risk of disease.
Until this summer, one company, Myriad Genetics, held an exclusive patent on the human BRCA genes. This monopoly meant that Myriad offered the only commercially available test for BRCA mutations, the test was expensive, you could not get a second opinion, and Myriad held exclusive rights to develop new tests and targeted therapies related to the BRCA genes.
When Breast Cancer Action joined a group of geneticists, researchers, physicians, and women with family histories of breast and ovarian cancer to file suit in 2009 with the ACLU against Myriad Genetics, not only were we challenging one company's right to patent the human BRCA1&2 genes, we were taking a stand to ensure that more women had access to potentially life-saving information about their inherited risk of cancer. An additional benefit of ending Myriad's monopoly is that new companies could offer new and better tests, utilizing advances in technology. During the years when Myriad held an exclusive monopoly on the human BRCA genes, rapid technological advances meant that the cost of genetic sequencing dropped dramatically, yet Myriad doubled the cost of their BRCA test over this same time frame. And indeed, the very day that the U.S. Supreme Court ruled in our favor in June, approximately half a dozen companies announced they would begin offering BRCA testing for a fraction of the cost.
Some people have drawn a link between the BRCA case and 23andMe's test by applauding direct-to-consumer companies for making people's genetic data accessible to them for just a couple of hundred dollars. And there are those who argue that the FDA's move to block one direct-to-consumer company's genetic testing is a move to block people's right to discover their own genetic information. Yet, the truth is that these companies, including 23andMe, go beyond genetic sequencing by offering interpretation of your test results. And this is where some of the most complex ethical, medical and scientific issues emerge--in understanding what our genes mean.
The truth is that we still understand very little about how our genes interact with our environment, and our individual choices, to impact our health. Despite the many advances in genomics, we still don't understand much about genomics at a most basic level. Even some of the most well-studied genes, such as the BRCA 1 & 2 genes discussed above, don't tell a person if she'll get cancer. After all, some women with these mutations never get cancer, and we don't know why.
Most genes are not nearly so well understood as the BRCA genes. We simply don't have the scientific evidence to know what mutations of most genes mean. Yet, direct-to-consumer companies like 23andMe are willing to make interpretive claims about some of these genes, despite the high risk of false positives and false negatives.
The FDA is asking 23andMe to demonstrate that its medical service is analytically and clinically validated. Validation includes both the analysis of people's saliva samples to conduct genetic sequencing and also the interpretation of these results to predict future risk of disease. While there are standard protocols followed by most labs that enable them to conduct DNA analysis, a number of studies have demonstrated that different clinical validation methods of different direct-to-consumer companies means that the same person can get different results from two different labs. A person may be told by one lab that they are at increased risk for disease and the same person may be told by another lab they are at below average risk of the same disease.
This problem of inadequately validated claims of clinical significance cannot simply be solved by saying these tests, like those offered by 23andMe, are for entertainment purposes only. 23andMe is making bold claims about a person's medical future, risk of disease, and responses to particular drugs. And the basis of 23andMe's claims, these predictions, must be subjected to rigorous scrutiny, peer review, and yes, FDA regulation.
While no one company should hold a monopoly on genetic testing, we also can't assume that every new test is a good test. All genetic testing should be properly validated to ensure the methods of testing and interpretation fulfill the intended purpose and provide meaningful and accurate information. Medical data ought to be shared with open-access databases for the benefit of scientific and medical advances. Testing should be accompanied, both before and after testing, with independent genetic counseling. And corporate marketing practices should not overpromise the benefit of genetic testing or drum up people's fear of disease.
Arguably, the primary compensation that consumers give to companies like 23andMe is access to their genetic and family histories. With nearly half a million people having given 23andMe their DNA and their family history, we must address issues of privatization of genetic material. Indeed, others have addressed the fact that 23andMe has used its vase database of genetic and family history to get a patent on "gamete donor selection based on genetic calculations". We need not focus on the controversy about "designer babies" which ensued, to see that 23andMe is using its customers' biodata and familial information to launch new business products, again with vast moral, medical, and scientific implications.
The key lessons we learned from Myriad monopoly on the "breast cancer genes" are not only that genetic testing is fraught with moral and medical complexity but also that, as a medical service, genetic testing must adhere to medical rather than business ethics. Public health and patient protection should come before company profit. And this week the FDA has taken a welcome stand to protect public health by insisting that what is clearly a medical service be regulated as such. While we continue, as a society, to sort out how to use genetic information to best serve the public's health, I am glad to see this move to regulate genetic testing according to medical rather than business ethics.
Click here to read the original article from HuffPost Business
Read more!
This week the Food and Drug Administration (FDA) issued a warning letter to the direct-to-consumer genetic testing company 23andMe, demanding that it immediately stop marketing and selling its DNA testing service until it receives approval from the agency tasked with regulating medical tests and devices. In what has widely been called a "scathing" letter, the FDA said that 23andMe had failed to show that "the firm has analytically or clinically validated the [23andMe Saliva Collection Kit and Personal Genome Service] for its intended uses" and expresses concern "about the public health consequences of inaccurate results from the P.G.S. device."
It sounds temptingly light-hearted to find out about the percentage of genes you share with a Neanderthal, your earwax type, or why you love Brussels sprouts while others can't stand them. But 23andMe's test doesn't stop there. It claims to provide health reports on some 254 diseases and conditions. Some of the information the company provides, based on the saliva you send them, includes how your body may metabolizes certain pharmaceutical drugs, an individual's carrier status, and risk of disease such as Parkinson's, schizophrenia, sudden cardiac arrest, scoliosis, and Amyotrophic Lateral Sclerosis (ALS). Hardly light-hearted and recreational given the potentially life-altering implications of such information.
Genetic testing is complex and raises a wide range of medical, ethical, and scientific issues. And no one knows this better than the families who have cancer-linked mutations on the BRCA1 or BRCA2 genes, commonly known as the "breast cancer genes." Some mutations of the BRCA genes are known to increase people's risk of breast, ovarian, and other cancers. Other mutations of the BRCA genes don't increase people's risk of these cancers. And we haven't yet learned what some other rare BRCA mutations mean for a person's future risk of disease.
Until this summer, one company, Myriad Genetics, held an exclusive patent on the human BRCA genes. This monopoly meant that Myriad offered the only commercially available test for BRCA mutations, the test was expensive, you could not get a second opinion, and Myriad held exclusive rights to develop new tests and targeted therapies related to the BRCA genes.
When Breast Cancer Action joined a group of geneticists, researchers, physicians, and women with family histories of breast and ovarian cancer to file suit in 2009 with the ACLU against Myriad Genetics, not only were we challenging one company's right to patent the human BRCA1&2 genes, we were taking a stand to ensure that more women had access to potentially life-saving information about their inherited risk of cancer. An additional benefit of ending Myriad's monopoly is that new companies could offer new and better tests, utilizing advances in technology. During the years when Myriad held an exclusive monopoly on the human BRCA genes, rapid technological advances meant that the cost of genetic sequencing dropped dramatically, yet Myriad doubled the cost of their BRCA test over this same time frame. And indeed, the very day that the U.S. Supreme Court ruled in our favor in June, approximately half a dozen companies announced they would begin offering BRCA testing for a fraction of the cost.
Some people have drawn a link between the BRCA case and 23andMe's test by applauding direct-to-consumer companies for making people's genetic data accessible to them for just a couple of hundred dollars. And there are those who argue that the FDA's move to block one direct-to-consumer company's genetic testing is a move to block people's right to discover their own genetic information. Yet, the truth is that these companies, including 23andMe, go beyond genetic sequencing by offering interpretation of your test results. And this is where some of the most complex ethical, medical and scientific issues emerge--in understanding what our genes mean.
The truth is that we still understand very little about how our genes interact with our environment, and our individual choices, to impact our health. Despite the many advances in genomics, we still don't understand much about genomics at a most basic level. Even some of the most well-studied genes, such as the BRCA 1 & 2 genes discussed above, don't tell a person if she'll get cancer. After all, some women with these mutations never get cancer, and we don't know why.
Most genes are not nearly so well understood as the BRCA genes. We simply don't have the scientific evidence to know what mutations of most genes mean. Yet, direct-to-consumer companies like 23andMe are willing to make interpretive claims about some of these genes, despite the high risk of false positives and false negatives.
The FDA is asking 23andMe to demonstrate that its medical service is analytically and clinically validated. Validation includes both the analysis of people's saliva samples to conduct genetic sequencing and also the interpretation of these results to predict future risk of disease. While there are standard protocols followed by most labs that enable them to conduct DNA analysis, a number of studies have demonstrated that different clinical validation methods of different direct-to-consumer companies means that the same person can get different results from two different labs. A person may be told by one lab that they are at increased risk for disease and the same person may be told by another lab they are at below average risk of the same disease.
This problem of inadequately validated claims of clinical significance cannot simply be solved by saying these tests, like those offered by 23andMe, are for entertainment purposes only. 23andMe is making bold claims about a person's medical future, risk of disease, and responses to particular drugs. And the basis of 23andMe's claims, these predictions, must be subjected to rigorous scrutiny, peer review, and yes, FDA regulation.
While no one company should hold a monopoly on genetic testing, we also can't assume that every new test is a good test. All genetic testing should be properly validated to ensure the methods of testing and interpretation fulfill the intended purpose and provide meaningful and accurate information. Medical data ought to be shared with open-access databases for the benefit of scientific and medical advances. Testing should be accompanied, both before and after testing, with independent genetic counseling. And corporate marketing practices should not overpromise the benefit of genetic testing or drum up people's fear of disease.
Arguably, the primary compensation that consumers give to companies like 23andMe is access to their genetic and family histories. With nearly half a million people having given 23andMe their DNA and their family history, we must address issues of privatization of genetic material. Indeed, others have addressed the fact that 23andMe has used its vase database of genetic and family history to get a patent on "gamete donor selection based on genetic calculations". We need not focus on the controversy about "designer babies" which ensued, to see that 23andMe is using its customers' biodata and familial information to launch new business products, again with vast moral, medical, and scientific implications.
The key lessons we learned from Myriad monopoly on the "breast cancer genes" are not only that genetic testing is fraught with moral and medical complexity but also that, as a medical service, genetic testing must adhere to medical rather than business ethics. Public health and patient protection should come before company profit. And this week the FDA has taken a welcome stand to protect public health by insisting that what is clearly a medical service be regulated as such. While we continue, as a society, to sort out how to use genetic information to best serve the public's health, I am glad to see this move to regulate genetic testing according to medical rather than business ethics.
Click here to read the original article from HuffPost Business
Read more!
Wednesday, November 27, 2013
Here’s why the FDA is targeting 23andMe
Original story on medcitynews.com by Christina Farr, 11/26/13
Monday morning, federal regulators issued an enforcement action against 23andMe, a popular Silicon Valley-based genetic testing startup.
Community forums and news sites across the web exploded with debate, with most people rallying to 23andMe’s defense. The company’s ample support-base claims that the Food and Drug Administration is over-regulating, and is stifling innovation.
However, the majority of geneticists and medical professionals I’ve spoke with have sided with the Food and Drug Administration, arguing that many patients require genetic counseling after receiving DNA test results that point to a high risk of cancer and other life-threatening conditions.
One San Francisco-based neurologist, who asked to remain anonymous, told me that some of her healthiest patients — all 23andMe customers — have begun demanding unnecessary and expensive MRI tests for Alzheimer’s Disease. “23andMe’s test is creating chaos with people in their 20s and 30s,” she said. “They generate havoc and walk away.”
Indeed, in the event that this divisive case reaches the California courts, it may have far-reaching implications for the genetics industry and beyond.
23andMe: How it works
Google-backed 23andMe is among the first to market and sell an affordable DNA test directly to consumers rather than to care providers. The company is backed by Google and run by Anne Wojcicki, the soon to be ex-wife of the Google cofounder Sergey Brin.
On its website, 23andMe claims that it is “saving lives” by delivering clinical insights, such as your risk of developing breast cancer or Parkinson’s Disease. The company says in its marketing materials that it will provide “health reports on 254 diseases and conditions.”
23andMe also sends you information about your ancestral history and frequently describes this process in ads and blog posts as “empowering” and “fun.”
That’s all well and good, but the FDA is contending that 23andMe’s method of amassing DNA — its Saliva Collection Kit and Personal Genome Service (PGS) – is a class III medical device under the Federal Food, Drug, and Cosmetic Act. The device has not obtained proper regulatory clearance and is therefore misbranded under the law.
In its letter, originally issued on Friday, the FDA explains that the kit falls under the medical device category, as consumers could act on the results as a diagnosis — not just a prediction of risk. Regulators are concerned that a false positive from a 23andMe test could result in unnecessary surgery and that false negatives could lead to patients being less aggressive about screening for various health conditions.
The agency may have decided to take public action now, given that 23andme has begun testing various mutations of genes that indicate a woman might have a high risk of getting breast or ovarian cancer. A false positive on that test could cause a woman to undergo a needless mastectomy. And a growing number of women are requesting this test after hearing the news about Angelina Jolie’s surgery.
23andMe has 15 days to provide specific actions to address the issues raised by the FDA. At the time of this report, kits were still for sale on the company’s website.
Taking a stand
23andMe may choose to comply with the FDA, or it may argue that its PGS is not a medical device at all.
Lauren Fifield, a senior health policy expert predicts that the company will take a stand. “My gut tells me that the company isn’t challenging process but is instead challenging the very regulatory definition of what it is to be a device,” said Fifield, who works closely with startups, the FDA, and other federal health agencies in her role at Practice Fusion.
“What remains to be seen is whether the company and tech industry can convince the government that safety can be increased, or at least balanced, by innovation rather than set at odds,” she added.
23andMe is well funded, with an in-house legal counsel and policy team. The company has not responded to a request for an interview from any news publication, presumably as it convenes to determine a course of action.
In response to requests for information, 23andMe issued the following statement.
"We have received the warning letter from the Food and Drug Administration. We recognize that we have not met the FDA’s expectations regarding timeline and communication regarding our submission. Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns."
Note the use of the term “expectations” rather than rules or requirements, which suggests that 23andMe is not convinced by the FDA’s arguments.
The FDA, meanwhile, made clear in dealings with the media that it is taking a hard line. This letter was not delivered out of the blue. The agency says 23andMe has dragged its feet despite “14 face-to-face or teleconference meetings, hundreds of email exchanges, and dozens of written communications” since 2009.
“Companies that receive warning letters have the opportunity to address the violations,” explained Erica Jefferson, a spokesperson with the FDA, in an interview with VentureBeat. “If the violations are not addressed to the satisfaction of the FDA, further actions may be warranted, including seizure or civil money penalties.”
It’s all about the messaging
This case is still developing, but one crucial lesson for health entrepreneurs is that the FDA pays a great deal of attention to messaging.
This rule of thumb doesn’t just apply to genetic testing. The FDA recently clamped down on a mobile medical app called uChek, pointing out that the company’s marketing was misleading. The agency is more inclined to take action if an app promises to deliver an alternative to a doctor’s visit.
To the agency’s credit, developers have found it far easier to avoid federal oversight. For reference, the FDA recently released its final guidance on how it intends to regulate mobile medical apps.
In this particular case, the FDA may have taken issue with 23andMe’s aggressive marketing tactics. The company recently hired a former Gilt Groupe exec as its president; since then, it has been advertising its test to consumers on social media and various television networks.
Consumers may not understand that the test is serious — not just a bit of fun — and that the results can indicate incurable or life threatening disease.
“When I started Navigenics (a 23andMe rival that was acquired by Life Technologies for an unspecified sum), we spent an enormous amount of time communicating shades of grey — and we did all this alongside regular meetings with the FDA,” said human geneticist and entrepreneur Dietrich Stephan in an interview.
“Engaging the FDA as a partner to bring the most robust and safe new type of test to market is “diagnostics 101,” he added.
Stephan told me about a family friend who ordered a 23andMe test on a whim. His mother felt compelled to take the test, after discovering that her son carried a genetic variant called BRCA, which indicates a high risk of breast and ovarian cancer. After the mother received a positive result, she ordered a double mastectomy despite protestations from friends and family.
Indeed, physicians I interviewed stressed that patients should not order a DNA test without regard to the consequences. Dr. Malcolm Thaler, a primary care provider at One Medical, said he would prefer to have a conversation with a patient before they order a test “to put the results in context” and explain the numbers in detail.
In the short term, we may seen 23andMe under pressure to more readily link consumers with genetic counselors and adapt its marketing campaigns to reflect the life-changing and potentially very serious nature of the results.
Is this a landmark case?
The crux of the issue is that the FDA is still determining how it will regulate innovative health applications from Silicon Valley and other technology hubs. Health policy experts, like Practice Fusion‘s Fifield, believe this has the potential to be a “landmark case” if it goes to court.
Already, the public warning letter will serve as an important example and model for other startups.
“I’ll be watching how this case plays out,” said Heather Heine, an M.D. and founder of an early stage biotech company called Talking20. Heine doesn’t have such immense resources at her disposal as 23andMe to hire expensive consultants.
So Heine will keep a close eye on how 23andMe responds as she brings her company’s low-cost biomarker testing kit to market. “23andMe has the resources to push this envelope,” she said. “These resources allow them to be front-runners.”
Click here to read the original story on medcitynews.com Read more!
Monday morning, federal regulators issued an enforcement action against 23andMe, a popular Silicon Valley-based genetic testing startup.
Community forums and news sites across the web exploded with debate, with most people rallying to 23andMe’s defense. The company’s ample support-base claims that the Food and Drug Administration is over-regulating, and is stifling innovation.
However, the majority of geneticists and medical professionals I’ve spoke with have sided with the Food and Drug Administration, arguing that many patients require genetic counseling after receiving DNA test results that point to a high risk of cancer and other life-threatening conditions.
One San Francisco-based neurologist, who asked to remain anonymous, told me that some of her healthiest patients — all 23andMe customers — have begun demanding unnecessary and expensive MRI tests for Alzheimer’s Disease. “23andMe’s test is creating chaos with people in their 20s and 30s,” she said. “They generate havoc and walk away.”
Indeed, in the event that this divisive case reaches the California courts, it may have far-reaching implications for the genetics industry and beyond.
23andMe: How it works
Google-backed 23andMe is among the first to market and sell an affordable DNA test directly to consumers rather than to care providers. The company is backed by Google and run by Anne Wojcicki, the soon to be ex-wife of the Google cofounder Sergey Brin.
On its website, 23andMe claims that it is “saving lives” by delivering clinical insights, such as your risk of developing breast cancer or Parkinson’s Disease. The company says in its marketing materials that it will provide “health reports on 254 diseases and conditions.”
23andMe also sends you information about your ancestral history and frequently describes this process in ads and blog posts as “empowering” and “fun.”
That’s all well and good, but the FDA is contending that 23andMe’s method of amassing DNA — its Saliva Collection Kit and Personal Genome Service (PGS) – is a class III medical device under the Federal Food, Drug, and Cosmetic Act. The device has not obtained proper regulatory clearance and is therefore misbranded under the law.
In its letter, originally issued on Friday, the FDA explains that the kit falls under the medical device category, as consumers could act on the results as a diagnosis — not just a prediction of risk. Regulators are concerned that a false positive from a 23andMe test could result in unnecessary surgery and that false negatives could lead to patients being less aggressive about screening for various health conditions.
The agency may have decided to take public action now, given that 23andme has begun testing various mutations of genes that indicate a woman might have a high risk of getting breast or ovarian cancer. A false positive on that test could cause a woman to undergo a needless mastectomy. And a growing number of women are requesting this test after hearing the news about Angelina Jolie’s surgery.
23andMe has 15 days to provide specific actions to address the issues raised by the FDA. At the time of this report, kits were still for sale on the company’s website.
Taking a stand
23andMe may choose to comply with the FDA, or it may argue that its PGS is not a medical device at all.
Lauren Fifield, a senior health policy expert predicts that the company will take a stand. “My gut tells me that the company isn’t challenging process but is instead challenging the very regulatory definition of what it is to be a device,” said Fifield, who works closely with startups, the FDA, and other federal health agencies in her role at Practice Fusion.
“What remains to be seen is whether the company and tech industry can convince the government that safety can be increased, or at least balanced, by innovation rather than set at odds,” she added.
23andMe is well funded, with an in-house legal counsel and policy team. The company has not responded to a request for an interview from any news publication, presumably as it convenes to determine a course of action.
In response to requests for information, 23andMe issued the following statement.
"We have received the warning letter from the Food and Drug Administration. We recognize that we have not met the FDA’s expectations regarding timeline and communication regarding our submission. Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns."
Note the use of the term “expectations” rather than rules or requirements, which suggests that 23andMe is not convinced by the FDA’s arguments.
The FDA, meanwhile, made clear in dealings with the media that it is taking a hard line. This letter was not delivered out of the blue. The agency says 23andMe has dragged its feet despite “14 face-to-face or teleconference meetings, hundreds of email exchanges, and dozens of written communications” since 2009.
“Companies that receive warning letters have the opportunity to address the violations,” explained Erica Jefferson, a spokesperson with the FDA, in an interview with VentureBeat. “If the violations are not addressed to the satisfaction of the FDA, further actions may be warranted, including seizure or civil money penalties.”
It’s all about the messaging
This case is still developing, but one crucial lesson for health entrepreneurs is that the FDA pays a great deal of attention to messaging.
This rule of thumb doesn’t just apply to genetic testing. The FDA recently clamped down on a mobile medical app called uChek, pointing out that the company’s marketing was misleading. The agency is more inclined to take action if an app promises to deliver an alternative to a doctor’s visit.
To the agency’s credit, developers have found it far easier to avoid federal oversight. For reference, the FDA recently released its final guidance on how it intends to regulate mobile medical apps.
In this particular case, the FDA may have taken issue with 23andMe’s aggressive marketing tactics. The company recently hired a former Gilt Groupe exec as its president; since then, it has been advertising its test to consumers on social media and various television networks.
Consumers may not understand that the test is serious — not just a bit of fun — and that the results can indicate incurable or life threatening disease.
“When I started Navigenics (a 23andMe rival that was acquired by Life Technologies for an unspecified sum), we spent an enormous amount of time communicating shades of grey — and we did all this alongside regular meetings with the FDA,” said human geneticist and entrepreneur Dietrich Stephan in an interview.
“Engaging the FDA as a partner to bring the most robust and safe new type of test to market is “diagnostics 101,” he added.
Stephan told me about a family friend who ordered a 23andMe test on a whim. His mother felt compelled to take the test, after discovering that her son carried a genetic variant called BRCA, which indicates a high risk of breast and ovarian cancer. After the mother received a positive result, she ordered a double mastectomy despite protestations from friends and family.
Indeed, physicians I interviewed stressed that patients should not order a DNA test without regard to the consequences. Dr. Malcolm Thaler, a primary care provider at One Medical, said he would prefer to have a conversation with a patient before they order a test “to put the results in context” and explain the numbers in detail.
In the short term, we may seen 23andMe under pressure to more readily link consumers with genetic counselors and adapt its marketing campaigns to reflect the life-changing and potentially very serious nature of the results.
Is this a landmark case?
The crux of the issue is that the FDA is still determining how it will regulate innovative health applications from Silicon Valley and other technology hubs. Health policy experts, like Practice Fusion‘s Fifield, believe this has the potential to be a “landmark case” if it goes to court.
Already, the public warning letter will serve as an important example and model for other startups.
“I’ll be watching how this case plays out,” said Heather Heine, an M.D. and founder of an early stage biotech company called Talking20. Heine doesn’t have such immense resources at her disposal as 23andMe to hire expensive consultants.
So Heine will keep a close eye on how 23andMe responds as she brings her company’s low-cost biomarker testing kit to market. “23andMe has the resources to push this envelope,” she said. “These resources allow them to be front-runners.”
Click here to read the original story on medcitynews.com Read more!
Monday, November 25, 2013
F.D.A. Demands a Halt to a DNA Test Kit’s Marketing
Original article by Andrew Pollack, NYTimes, 11/25/13
In a crackdown on genetic testing offered directly to consumers, the Food and Drug Administration is demanding that 23andMe immediately cease marketing its main DNA service until it receives marketing clearance from the agency.
In a warning letter issued Friday and posted on the F.D.A.'s website Monday, the F.D.A. said that the company had failed to provide adequate evidence that its Personal Genome Service provided accurate results.
“F.D.A. is concerned about the public health consequences of inaccurate results from the P.G.S. device,” the agency said in its letter. “The main purpose of compliance with F.D.A.'s regulatory requirements is to ensure the tests work.”
23andMe, which is backed by Google and run by Anne Wojcicki, wife of the Google co-founder Sergey Brin, is perhaps the best known of the personal genome testing companies. Its service, which has been used by about half a million people, tells consumers whether they might be at a higher or lower risk of developing various diseases, among other things.
Whether such tests require F.D.A. approval and whether doctors must be involved in ordering such tests have been the subject of debate. 23andMe has long held that consumers are entitled to the information on their own DNA, though it has also been talking to the F.D.A. about how its tests could receive regulatory approval.
Ms. Wojcicki did not immediately respond to an email seeking comment and her company, which is based in Mountain View, Calif., had not yet responded on its website Monday morning.
The F.D.A. warning letter said the agency considered the Personal Genome Service a medical device that required approval.
The letter noted that 23andMe did apply for approval for some uses of the test in 2012. However, it said, the company did not provide the additional information requested by the agency, so the agency considered the applications to have been withdrawn.
The letter accused 23andMe of dragging its feet despite “14 face-to-face or teleconference meetings, hundreds of email exchanges and dozens of written communications” since 2009.
“However, even after these many interactions with 23andMe, we still do not have any assurance that the firm has analytically or clinically validated the P.G.S. for its intended uses, which have expanded from the uses that the firm identified in its submissions.”
The letter added, “Instead, we have become aware that you have initiated new marketing campaigns, including television commercials that, together with an increasing list of indications, show that you plan to expand the P.G.S.'s uses and consumer base without obtaining marketing authorization from F.D.A.”
What seems to have raised the most concern from the agency is 23andMe’s expansion into offering tests for mutations of genes that indicate a woman might have an extraordinarily high risk of getting breast or ovarian cancer. The F.D.A. said a false positive on that test could cause a woman to undergo a needless mastectomy.
The agency also seemed concerned about 23andMe’s expansion into testing of genetic variants to help predict people’s responses to drugs such as warfarin, a blood-thinning medication.
23andMe now sells its service, which also offers ancestry information, for $99. It is aiming to grow to 1 million customers by early next year. Part of its business plan is to use the information on its customers to perform biomedical research, such as finding genetic causes of diseases.
The F.D.A. first sent letters to 23andMe and some of its competitors in 2010, saying that regulatory approval would be required for the tests. Following that, some of the other companies stopped offering tests directly to consumers.
Click here to read the original article on The NYTimes Read more!
Can 23andMe testing really enable you to be 'Healthy at 100'?
23andMe's Anne Wojcicki recently appeared on 'CBS This Morning' to discuss how personal genomic profiling can provide information to empower individuals to be "healthy at 100". After watching this segment, we are left wondering about several key issues:
- Does the type/quality of data obtained from 23andMe really give us enough information to be healthy at 100? While this might be the goal, we have yet to see evidence that demonstrates how this type of information can lead to better overall health. What measurable outcomes have shown that people can use this information to be “healthy at 100”? Or even healthier one year after learning the results? We would argue that our current knowledge of SNP analysis (the technology used by 23andMe) is insufficient to provide reliable estimates for disease risk. There have even been reports in which a sample from the same client was sent to several leading SNP-based companies for analysis, and the results included widely divergent risk estimates with companies reporting “above average,” “below average,” and “average” risks for the same condition in the same individual.
- Even if we can use SNP analysis to make accurate inferences about common disease risk, it is doubtful this information will be clinically useful in the majority of cases as most diseases are multifactorial and genetics is only one component contributing to risk. Wojcicki’s claim that this testing may have the power to allow a doctor to inform his patient he is “3 years away from being diabetic” is a gross overestimation of the power of this test. Are there data to show that SNPs are any better at predicting diabetes risk than an individual’s personal and family history, BMI, fasting blood sugar, diet and exercise habits?
- Wojcicki makes no mention of the limitations in this type of testing and does not reference other forms of genetic testing such as single gene tests, which often have defined risk associations and management recommendations. For example, it is entirely possible for a woman to receive a SNP-based result that states “low risk for breast cancer” and subsequently test positive for a genetic mutation, not included in 23andMe testing, that confers a risk of breast cancer of up to 85%.
- Beyond the vague and misleading information provided by 23andMe, there are also significant ethical ramifications that are not addressed. For example, 23andMe does not address the ethical issues around testing children for adult-onset disorders despite the field’s general recommendations against such testing.
Read more!
Monday, November 18, 2013
Give The Gift of Family Health History
Knowing your family health history in advance could save your life.
As you gather with your family this holiday season, give the gift that is truly most important --- health. Take the time to obtain and document your entire family history, including information about the health conditions (e.g. cancer, heart disease, etc) in your family. Knowing your family health history can help your clinicians offer you the most appropriate medical care and possibly prevent disease. Tools to help collect and organize your family history information are available. Learn more at http://www.genesinlife.org/genes-your-health. Yale Cancer Genetic Counseling is not affiliated with this organization.
Additional information about collecting and researching your family history can also be found on our website: http://yalecancercenter.org/patient/support/genetics/resources/LOI.aspx
Read more!
As you gather with your family this holiday season, give the gift that is truly most important --- health. Take the time to obtain and document your entire family history, including information about the health conditions (e.g. cancer, heart disease, etc) in your family. Knowing your family health history can help your clinicians offer you the most appropriate medical care and possibly prevent disease. Tools to help collect and organize your family history information are available. Learn more at http://www.genesinlife.org/genes-your-health. Yale Cancer Genetic Counseling is not affiliated with this organization.
Additional information about collecting and researching your family history can also be found on our website: http://yalecancercenter.org/patient/support/genetics/resources/LOI.aspx
Read more!
Thursday, November 14, 2013
Free The Data!
Free the Data raises awareness about the need to share genetic variation freely. While millions of people receive mutation reports annually, these mutations are usually not publishable in journals and do not appear in the public domain. Watch the video and/or click the link below for more information -- and learn how to free your data!
FREE THE DATA
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FREE THE DATA
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Wednesday, November 6, 2013
Ellen T. Matloff Featured as Guest Lecturer of the Max and Marian Farash Community Lecture Series
Original post by William and Hobart Smith Colleges
The Colleges hosted a standing-room only crowd for a lecture on genetic counseling by Yale research scientist and Geneva High School graduate Ellen T. Matloff, as a distinguished guest lecturer of the Max and Marian Farash Community Lecture series on Oct. 24. Matloff was introduced by Courtney Franceschi '16, also a GHS alum. Colleges President Mark D. Gearan reflected on the promise and success of these remarkable women in a guest essay which appeared in the Democrat and Chronicle's online edition (full article featured below).
"The crowd Thursday night celebrated the great promise of local students like Courtney Franceschi, the success of residents like Ellen Matloff who are making a remarkable difference, and the enduring legacy of Max and Marian Farash whose generosity continues to transform lives," wrote Gearan.
Gearan is chair of the Talloires Network Steering Committee, an international association of more than 200 institutions on six continents committed to strengthening the civic roles and social responsibilities of higher education. He is also the co-chair of the National Advisory Board on Public Service at Harvard College and serves on the Presidential Advisory Group for the NCAA. He is a Board member of the Commission on Independent Colleges and Universities and a former Board member of The Partnership for Public Service. Gearan is also past chair of the Board of Directors of National Campus Compact, the Corporation for National and Community Service, and the Board of Directors of the Annapolis Group.
He served as Director of the Peace Corps and was Assistant to the President, Director of Communications and Deputy Chief of Staff in the White House. Gearan is a former member of the White House Council for Community Solutions, a group of cross-sector leaders appointed by President Barack Obama to recommend collaborative solutions to increase civic engagement. Locally, he serves on the advisory councils of the Happiness House Foundation, Ontario ARC and the Geneva Community Center.
Democrat and Chronicle
Web Essay: Past, present, future success stories connect
Mark D. Gearan • Guest Essayist• October 30, 2013
When Courtney Franceschi walked into the admissions office at Hobart and William Smith Colleges in the spring of 2012, she had no idea that two people she had never met were about to change her life. Franceschi describes the moment as surreal, something that she still hasn't fully processed.
On that day, the HWS assistant director of admissions handed Franceschi a folder that detailed a scholarship that would pay for all four years of college at HWS including tuition, room, board, living expenses and study abroad. As a first generation college student from Geneva, Ontario County, Franceschi had been selected to be a member of the inaugural Farash First in Family Scholarship program, made possible through the generosity of the Max and Marian Farash Charitable Foundation, based in Rochester.
Today, Franceschi is a sophomore in the pre-med program at HWS with plans to major in biology and minor in sociology. She's a teaching fellow in the chemistry department and manager of a theme residence house, "Random Acts of Kindness," that promotes community service projects locally, nationally and internationally. She's involved in the Geneva 2020 initiative, a collective impact project to advance the local school district. And last summer, she had an internship at a school in Haiti, where she saw firsthand how organizations like Doctors Without Borders, which she would like to one day join, are making a difference. She recently told me that the Farash Scholarship "opened my world in ways that can't be measured. No one can truly realize the actual effect a gift like this can have on a life. It has given me opportunity."
On Oct. 24, Franceschi introduced Yale research scientist Ellen T. Matloff at a public lecture sponsored by the Max and Marian Farash Charitable Foundation. Like Franceschi, Matloff is a graduate of Geneva High School. She delivered a talk titled "The Angelina Jolie Effect: Genetic Testing in 2013." Matloff joined Yale in 1995 to start the Genetic Counseling Program, which is now one of the largest in the country. She provides counseling to individuals and families who are considering undergoing genetic testing in relation to hereditary breast, ovarian and colon cancer syndromes, as well as rare cancers. As a highly publicized example, Angelina Jolie's proactive, preventative double mastectomy was discussed.
The crowd Thursday night celebrated the great promise of local students like Courtney Franceschi, the success of residents like Ellen Matloff who are making a remarkable difference, and the enduring legacy of Max and Marian Farash whose generosity continues to transform lives.
Click here to access the original post via Hobart and William Smith Colleges
Read more!
The Colleges hosted a standing-room only crowd for a lecture on genetic counseling by Yale research scientist and Geneva High School graduate Ellen T. Matloff, as a distinguished guest lecturer of the Max and Marian Farash Community Lecture series on Oct. 24. Matloff was introduced by Courtney Franceschi '16, also a GHS alum. Colleges President Mark D. Gearan reflected on the promise and success of these remarkable women in a guest essay which appeared in the Democrat and Chronicle's online edition (full article featured below).
"The crowd Thursday night celebrated the great promise of local students like Courtney Franceschi, the success of residents like Ellen Matloff who are making a remarkable difference, and the enduring legacy of Max and Marian Farash whose generosity continues to transform lives," wrote Gearan.
Gearan is chair of the Talloires Network Steering Committee, an international association of more than 200 institutions on six continents committed to strengthening the civic roles and social responsibilities of higher education. He is also the co-chair of the National Advisory Board on Public Service at Harvard College and serves on the Presidential Advisory Group for the NCAA. He is a Board member of the Commission on Independent Colleges and Universities and a former Board member of The Partnership for Public Service. Gearan is also past chair of the Board of Directors of National Campus Compact, the Corporation for National and Community Service, and the Board of Directors of the Annapolis Group.
He served as Director of the Peace Corps and was Assistant to the President, Director of Communications and Deputy Chief of Staff in the White House. Gearan is a former member of the White House Council for Community Solutions, a group of cross-sector leaders appointed by President Barack Obama to recommend collaborative solutions to increase civic engagement. Locally, he serves on the advisory councils of the Happiness House Foundation, Ontario ARC and the Geneva Community Center.
Democrat and Chronicle
Web Essay: Past, present, future success stories connect
Mark D. Gearan • Guest Essayist• October 30, 2013
When Courtney Franceschi walked into the admissions office at Hobart and William Smith Colleges in the spring of 2012, she had no idea that two people she had never met were about to change her life. Franceschi describes the moment as surreal, something that she still hasn't fully processed.
On that day, the HWS assistant director of admissions handed Franceschi a folder that detailed a scholarship that would pay for all four years of college at HWS including tuition, room, board, living expenses and study abroad. As a first generation college student from Geneva, Ontario County, Franceschi had been selected to be a member of the inaugural Farash First in Family Scholarship program, made possible through the generosity of the Max and Marian Farash Charitable Foundation, based in Rochester.
Today, Franceschi is a sophomore in the pre-med program at HWS with plans to major in biology and minor in sociology. She's a teaching fellow in the chemistry department and manager of a theme residence house, "Random Acts of Kindness," that promotes community service projects locally, nationally and internationally. She's involved in the Geneva 2020 initiative, a collective impact project to advance the local school district. And last summer, she had an internship at a school in Haiti, where she saw firsthand how organizations like Doctors Without Borders, which she would like to one day join, are making a difference. She recently told me that the Farash Scholarship "opened my world in ways that can't be measured. No one can truly realize the actual effect a gift like this can have on a life. It has given me opportunity."
On Oct. 24, Franceschi introduced Yale research scientist Ellen T. Matloff at a public lecture sponsored by the Max and Marian Farash Charitable Foundation. Like Franceschi, Matloff is a graduate of Geneva High School. She delivered a talk titled "The Angelina Jolie Effect: Genetic Testing in 2013." Matloff joined Yale in 1995 to start the Genetic Counseling Program, which is now one of the largest in the country. She provides counseling to individuals and families who are considering undergoing genetic testing in relation to hereditary breast, ovarian and colon cancer syndromes, as well as rare cancers. As a highly publicized example, Angelina Jolie's proactive, preventative double mastectomy was discussed.
The crowd Thursday night celebrated the great promise of local students like Courtney Franceschi, the success of residents like Ellen Matloff who are making a remarkable difference, and the enduring legacy of Max and Marian Farash whose generosity continues to transform lives.
Click here to access the original post via Hobart and William Smith Colleges
Read more!
Friday, November 1, 2013
Before Angelina: Portraits of Breast Cancer Previvors and Survivors
Original story from TIME, 10/28/13
In honor of Breast Cancer Awareness Month, TIME photographed 15 women who chose to have preventative double mastectomies after learning they carry the BRCA1 or BRCA2 mutations, years before Angelina Jolie’s New York Times Op-ed renewed the conversation about the genetic risk factors and surgical decisions. These mutations can increase the risk of breast cancer by up to 80% and the risk of ovarian cancer by 45%, which prompts many women to decide to remove their breasts even before any signs of cancer. Those who test positive for the mutations also have a 50% chance of passing the gene to their children. Here are their stories.
Read more!
In honor of Breast Cancer Awareness Month, TIME photographed 15 women who chose to have preventative double mastectomies after learning they carry the BRCA1 or BRCA2 mutations, years before Angelina Jolie’s New York Times Op-ed renewed the conversation about the genetic risk factors and surgical decisions. These mutations can increase the risk of breast cancer by up to 80% and the risk of ovarian cancer by 45%, which prompts many women to decide to remove their breasts even before any signs of cancer. Those who test positive for the mutations also have a 50% chance of passing the gene to their children. Here are their stories.
Read more!
Thursday, October 24, 2013
Myriad Sues Quest Over BRCA1/2 Patents
Original post on GenomeWeb, 10/24/13
Myriad Genetics yesterday filed a suit against Quest Diagnostics alleging patent infringement, the fourth lawsuit Myriad has filed against a competitor following a US Supreme Court ruling on patents covering BRCA1 and BRCA2 gene testing.
The lawsuit was filed in US District Court for the District of Utah, Central Division, and in addition to Myriad, the plaintiffs include the Trustees of the University of Pennsylvania, the Hospital for Sick Children in Toronto, and Canadian firm Endorecherche.
The plaintiffs allege Quest infringes eight patents covering BRCA1/2 genes — US Patent No. 5,709,999; No. 5,747,282; No. 5,753,441; No. 5,837,492; No. 6,033,857; No. 6,051,379; No. 6,951,721; and No. 7,250,497.
This week's development follows Quest's lawsuit filed almost two weeks ago seeking a declaration that its test, called BRCAvantage and launched last week, does not infringe Myriad's patents. Myriad similarly sued GeneDx last week, claiming that that firm infringes 14 patents held by Myriad and the other plaintiffs covering BRCA1/2 testing.
During the summer, the Salt Lake City company took Ambry Genetics and Gene by Gene to court after those firms commercialized BRCA1/2 gene tests that Myriad claimed infringes its patents. The two companies have fired back with their own lawsuit accusing Myriad of antitrust violations.
Another firm, Counsyl, also sued Myriad in September and asked a California federal district court to preemptively declare it does not infringe Myriad's patents.
The impetus for the legal free-for-all is a June ruling from SCOTUS that Myriad's competitors have interpreted as a green light to enter the BRCA1/2 gene testing space, a market that Myriad had owned almost exclusively in the US.
In its decision, SCOTUS ruled that human genes cannot be patented. However, synthetic DNA, or cDNA, can be patented.
Myriad has maintained that in spite of the ruling, it still has 500 valid and enforceable claims in 24 patents underlying its test called BRACAnalysis.
In its action against Quest, Myriad seeks a jury trial, damages, a preliminary injunction against Quest from selling or marketing products that allegedly infringe Myriad's patents, and an order that Quest deliver to Myriad products that it believes infringes the patents for possible destruction.
In an e-mail to GenomeWeb Daily News a Quest spokesperson said that the firm expected Myriad's lawsuit and called it "merely the latest in a pattern of behavior toward any test provider that introduces a new option in BRCA testing that can benefit patients.
"We are confident that our offering does not violate any Myriad claims," she added. "We will vigorously defend, and continue to provide, BRCAvantage to the many patients who seek options in BRCA testing."
Click here to see the original post on GenomeWeb
Read more!
Myriad Genetics yesterday filed a suit against Quest Diagnostics alleging patent infringement, the fourth lawsuit Myriad has filed against a competitor following a US Supreme Court ruling on patents covering BRCA1 and BRCA2 gene testing.
The lawsuit was filed in US District Court for the District of Utah, Central Division, and in addition to Myriad, the plaintiffs include the Trustees of the University of Pennsylvania, the Hospital for Sick Children in Toronto, and Canadian firm Endorecherche.
The plaintiffs allege Quest infringes eight patents covering BRCA1/2 genes — US Patent No. 5,709,999; No. 5,747,282; No. 5,753,441; No. 5,837,492; No. 6,033,857; No. 6,051,379; No. 6,951,721; and No. 7,250,497.
This week's development follows Quest's lawsuit filed almost two weeks ago seeking a declaration that its test, called BRCAvantage and launched last week, does not infringe Myriad's patents. Myriad similarly sued GeneDx last week, claiming that that firm infringes 14 patents held by Myriad and the other plaintiffs covering BRCA1/2 testing.
During the summer, the Salt Lake City company took Ambry Genetics and Gene by Gene to court after those firms commercialized BRCA1/2 gene tests that Myriad claimed infringes its patents. The two companies have fired back with their own lawsuit accusing Myriad of antitrust violations.
Another firm, Counsyl, also sued Myriad in September and asked a California federal district court to preemptively declare it does not infringe Myriad's patents.
The impetus for the legal free-for-all is a June ruling from SCOTUS that Myriad's competitors have interpreted as a green light to enter the BRCA1/2 gene testing space, a market that Myriad had owned almost exclusively in the US.
In its decision, SCOTUS ruled that human genes cannot be patented. However, synthetic DNA, or cDNA, can be patented.
Myriad has maintained that in spite of the ruling, it still has 500 valid and enforceable claims in 24 patents underlying its test called BRACAnalysis.
In its action against Quest, Myriad seeks a jury trial, damages, a preliminary injunction against Quest from selling or marketing products that allegedly infringe Myriad's patents, and an order that Quest deliver to Myriad products that it believes infringes the patents for possible destruction.
In an e-mail to GenomeWeb Daily News a Quest spokesperson said that the firm expected Myriad's lawsuit and called it "merely the latest in a pattern of behavior toward any test provider that introduces a new option in BRCA testing that can benefit patients.
"We are confident that our offering does not violate any Myriad claims," she added. "We will vigorously defend, and continue to provide, BRCAvantage to the many patients who seek options in BRCA testing."
Click here to see the original post on GenomeWeb
Read more!
Tuesday, October 15, 2013
Who Can Challenge Myriad's Monopoly In Breast Cancer Gene Tests?
Original post on Forbes.com by Mathhew Herper, 10/15/13
Four months after a Supreme Court decision that invalidated some patents on Myriad Genetics’ tests for breast and ovarian cancer risk, the Salt Lake City biotechnology firm is facing a new, and very big, competitor: Quest Diagnostics, the $7 billion (sales) maker of laboratory tests.
Quest will offer the most comprehensive version of the tests, which look at variation in the DNA in the BRCA1 and BRCA2 genes, for $2,500, about 40% less than Myriad charges. Simpler tests, which can look for particular spelling variation because of a patient’s family history or ethnicity, will cost $500.
“We’re certainly starting to see the classic race to the bottom I’ll be astonished if the price isn’t under $500 for the whole thing pretty soon,” says George Sledge, Chief of the Division of Oncology at Stanford University. “The actual analysis if you’re not using 1995 technology the prices should be super-cheap because the price of sequencing is following a super-Moore’s law track. It doesn’t make much sense from a technology standpoint that it should be this expensive.”
Not everyone agrees that a race to the bottom is in the works. Myriad has several advantages over other players: it has other patents that were not touched by the Supreme Court decision; it controls a proprietary database of which variants in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancer, and by how much; and it has developed a good reputation among cancer doctors and gynecologists, who have no reason to switch to a new test just because it is cheaper so long as insurers pay for the old one. Myriad has reason to fight, because it gets much of its $613 million in annual sales from sales of the BRCA tests.
The first two challengers, Ambry Genetics and Gene-By-Gene, are already embroiled in a legal battle with Myriad. And Myriad isn’t showing any signs of backing down for Quest. When Quest sued it ahead of its product launch, a Myriad spokesman told GenomeWeb that it would be “premature to comment” but that the patents around the tests are “valid and enforceable.”
Sue Friedman, the executive director of Facing Our Risk of Cancer, a patient group that advocates for people with hereditary cancer risk, says she still hopes Quest’s entry is a move toward healthy competition. “We’re hoping that having another laboratory that has a reputation for high quality lab tasting to offer testing to patients will drive the cost down,” she says.
Click here to see the original story on Forbes.com
Read more!
Four months after a Supreme Court decision that invalidated some patents on Myriad Genetics’ tests for breast and ovarian cancer risk, the Salt Lake City biotechnology firm is facing a new, and very big, competitor: Quest Diagnostics, the $7 billion (sales) maker of laboratory tests.
Quest will offer the most comprehensive version of the tests, which look at variation in the DNA in the BRCA1 and BRCA2 genes, for $2,500, about 40% less than Myriad charges. Simpler tests, which can look for particular spelling variation because of a patient’s family history or ethnicity, will cost $500.
“We’re certainly starting to see the classic race to the bottom I’ll be astonished if the price isn’t under $500 for the whole thing pretty soon,” says George Sledge, Chief of the Division of Oncology at Stanford University. “The actual analysis if you’re not using 1995 technology the prices should be super-cheap because the price of sequencing is following a super-Moore’s law track. It doesn’t make much sense from a technology standpoint that it should be this expensive.”
Not everyone agrees that a race to the bottom is in the works. Myriad has several advantages over other players: it has other patents that were not touched by the Supreme Court decision; it controls a proprietary database of which variants in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancer, and by how much; and it has developed a good reputation among cancer doctors and gynecologists, who have no reason to switch to a new test just because it is cheaper so long as insurers pay for the old one. Myriad has reason to fight, because it gets much of its $613 million in annual sales from sales of the BRCA tests.
The first two challengers, Ambry Genetics and Gene-By-Gene, are already embroiled in a legal battle with Myriad. And Myriad isn’t showing any signs of backing down for Quest. When Quest sued it ahead of its product launch, a Myriad spokesman told GenomeWeb that it would be “premature to comment” but that the patents around the tests are “valid and enforceable.”
Sue Friedman, the executive director of Facing Our Risk of Cancer, a patient group that advocates for people with hereditary cancer risk, says she still hopes Quest’s entry is a move toward healthy competition. “We’re hoping that having another laboratory that has a reputation for high quality lab tasting to offer testing to patients will drive the cost down,” she says.
Click here to see the original story on Forbes.com
Read more!
Thursday, October 3, 2013
The Angelina Jolie Effect: What Every Woman Should Know About Her Genetics
The JCC of Woodbridge will be hosting "The Angelina Jolie Effect: What Every Woman Should Know About Her Genetics", tonight from 7:00 - 9:00pm. This talk will include a panel of medical experts from Yale, including genetic counselor Ellen T. Matloff.
Location:
Jewish Community Center,
360 Amity Road,
Woodbridge, CT, 06525,
Phone: 203-387-2424,
Fax: 203-387-1818,
egroves@jewishnewhaven.org
Contact:
Enid Groves,
Phone: 203-387-2424
Fax: 203-387-1818
egroves@jewishnewhaven.org
JCC - The Angelina Effect
Read more!
Location:
Jewish Community Center,
360 Amity Road,
Woodbridge, CT, 06525,
Phone: 203-387-2424,
Fax: 203-387-1818,
egroves@jewishnewhaven.org
Contact:
Enid Groves,
Phone: 203-387-2424
Fax: 203-387-1818
egroves@jewishnewhaven.org
JCC - The Angelina Effect
Read more!
Wednesday, October 2, 2013
Mammography techs ordering their own genetic testing? It appears our suspicion was correct.
A concerned referring physician of ours recently called to report that her confused and somewhat panicked patient just returned from her mammography appointment to say that the tech ordered genetic testing. Based on the patient’s questions and concerns it appeared she had received no genetic counseling and had no informed consent discussion. Additionally, she did not know what test had been ordered and she had no follow-up plan to discuss her test results. The physician was upset and asked, "Is this something that is happening now? Is it common for mammo techs to order this testing? I’m not really sure what to tell the patient or where to go from here if she tests positive. Isn’t this what a genetic counselor is for? Is it just me or does this seem like it could go really bad…?"
No, it isn't just you. This could be a disaster in the making for not only the patients, but also the well-meaning professionals, likely with no education in genetics, who are being subjected to great liability by offering services far outside their professional scope. Read more!
No, it isn't just you. This could be a disaster in the making for not only the patients, but also the well-meaning professionals, likely with no education in genetics, who are being subjected to great liability by offering services far outside their professional scope. Read more!
Thursday, September 26, 2013
'The Angelina Jolie Effect' symposium offers inspiration, information
Original post 9/25/13, The Middletown Press
For actress, author and activist Angelina Jolie, beauty is a trademark as much as her talents on stage and screen, her relationship with Brad Pitt and the children they share and her philanthropic projects for refugees. Today she has a new distinction, known simply as the Angelina Jolie Effect - her pro-active response to the threat of breast cancer and ovarian cancer and her decision to undergo a preventive double mastectomy as well as her announced plans to have her ovaries removed.
To celebrate her decision and to educate all women and men about women's cancers, the public is invited to a symposium "The Angelina Jolie Effect: What Every Woman Should Know About Her Genetics" on Thursday, October 3 at 7 p.m. at the Jewish Community Center, 360 Amity Road, Woodbridge.
As an inspiration to encourage women to take a proactive stance on their health, Jolie had undergone BRCA gene testing and discovered she had an 87 percent risk of developing breast cancer as well as a 44 percent chance of developing ovarian cancer. Her mother, grandmother and aunt died of breast or ovarian cancer, all at a young age.
Because of her mastectomy, her risks were lowered to less than 5 percent. Her decision to go public in May 2013 opened a free flowing discussion on this sensitive topic.
A panel of medical experts from the Yale University School of Medicine will include: James J. Farrell, M.D., Director, Yale Center for Pancreatic Diseases, Associate Professor of Medicine, Section of Digestive Diseases; Erin Wysong Hofstatter, M.D., Assistant Professor of Medicine,Breast Cancer Program; Ellen T. Matloff, M.S., C.G.C., Director, Cancer Genetic Counseling,Yale Cancer Center; and Elena Ratner, M.D., Assistant Professor of Obstetrics, Gynecology, and Reproductive Sciences.
Pre-registration is required to egroves@jewishnewhaven.org or www.jewishnewhaven.org. The event is free and open to the public and the co-chairs are Beverly Levy and Judy Sklarz.
"As a cancer patient, I know the importance of genetic testing and we've matched up two likely organizations, to which I'm connected, to sponsor this program," Levy said. "Jewish organizations like Women's Philanthropy of the New Haven Jewish Federation are spreading the word about genetic testing because Jews of Eastern European decent have a higher incidence of the BRCA gene mutation than other populations. And Discovery to Cure co-sponsoring the event is a 'natural.' They are one of the most renowned research units in the world on gynecological cancers and are right here at Yale." The increased risks of BRCA gene carriers for breast (men and women), ovarian, prostate and pancreatic cancers will also be covered.
"We have come a long way from the time cancer was whispered about as the 'big C,'" Levy continued. "One hope for this symposium is to encourage women to be tested and to bring the cost of genetic testing down to make it more affordable. Women with a specific family history of gynecological cancers will face more immediate and difficult health decisions and may be able to have their insurance company cover the $3,500 price tag."
"Those of us in our 50s and 60s know someone is diagnosed with some kind of cancer all the time, many of them gynecological ones," Sklarz said. "But they don't get the recognition or the research dollars that are vital. My diagnosis of uterine cancer felt like a rite of passage, like 'This is my turn.' I wanted to be involved in this event to support Beverly and encourage ways to identify these cancers a lot earlier."
For Kate Downey Berges, a photographer from Branford, the cause is also quite personal. She will speak about the voyage she and her three sisters took when they discovered that they were BRCA 1 positive from their father's side of the family. That news hit them minutes before two of the sisters of Irish descent were diagnosed: one with breast cancer, and one with ovarian cancer. Her moving and courageous story may prompt you to examine your family history, both maternal and paternal.
Through the candidness of one of the most beautiful women in the world and her medical announcement, Angelina Jolie is truly having an effect and empowering women to be educated. A walk to raise money for all gynecological cancers is planned for Sunday, Oct. 27 on the Yale University campus, with sign-in starting at 10 a.m. at Woolsey Hall on the corners of Grove and College Streets A leisurely two mile walk, starting and ending on the Yale Commons, will focus on sight-seeing with Yale University guides, and include free parking, door prizes, snacks, fun and a great cause.
Congresswoman Rosa DeLauro, herself a 27 year ovarian cancer survivor, is the honorary chair of the walk and will cut the ribbon officially opening the walk and give some remarks.
For her part, Levy is focused on finding new ways to help recognize, treat and prevent cancer through fundraising to support research.
"It's just not good enough that doctors find cancers like my ovarian cancer by accident," she said. "It is the fifth leading cause among cancer deaths for women and there are virtually no early warning signs. While undergoing chemotherapy, I am pouring my energy into fundraising to help the doctors and researchers at Yale develop early detection screening tests so they can find cancers like mine in the early stages when they are most curable and to find more and better treatments for women who are battling gynecologic cancers. We are hoping that people will join us for this great event to help fight back against cancer and enjoy a beautiful stroll on a fall day through the Yale University campus."
Gather your family and friends, make a team and help raise money for research and testing. Go to http://DTCNewHavenWalk.kintera.org for more information. Pre-registration is encouraged.
Donations can also be sent to: Office of Development, Yale School of Medicine/Discovery to Cure Walkathon c/o Joy Carrigan, P.O. Box 7611, New Haven, CT 06519, or call: 203-415-5555
Read more!
For actress, author and activist Angelina Jolie, beauty is a trademark as much as her talents on stage and screen, her relationship with Brad Pitt and the children they share and her philanthropic projects for refugees. Today she has a new distinction, known simply as the Angelina Jolie Effect - her pro-active response to the threat of breast cancer and ovarian cancer and her decision to undergo a preventive double mastectomy as well as her announced plans to have her ovaries removed.
To celebrate her decision and to educate all women and men about women's cancers, the public is invited to a symposium "The Angelina Jolie Effect: What Every Woman Should Know About Her Genetics" on Thursday, October 3 at 7 p.m. at the Jewish Community Center, 360 Amity Road, Woodbridge.
As an inspiration to encourage women to take a proactive stance on their health, Jolie had undergone BRCA gene testing and discovered she had an 87 percent risk of developing breast cancer as well as a 44 percent chance of developing ovarian cancer. Her mother, grandmother and aunt died of breast or ovarian cancer, all at a young age.
Because of her mastectomy, her risks were lowered to less than 5 percent. Her decision to go public in May 2013 opened a free flowing discussion on this sensitive topic.
A panel of medical experts from the Yale University School of Medicine will include: James J. Farrell, M.D., Director, Yale Center for Pancreatic Diseases, Associate Professor of Medicine, Section of Digestive Diseases; Erin Wysong Hofstatter, M.D., Assistant Professor of Medicine,Breast Cancer Program; Ellen T. Matloff, M.S., C.G.C., Director, Cancer Genetic Counseling,Yale Cancer Center; and Elena Ratner, M.D., Assistant Professor of Obstetrics, Gynecology, and Reproductive Sciences.
Pre-registration is required to egroves@jewishnewhaven.org or www.jewishnewhaven.org. The event is free and open to the public and the co-chairs are Beverly Levy and Judy Sklarz.
"As a cancer patient, I know the importance of genetic testing and we've matched up two likely organizations, to which I'm connected, to sponsor this program," Levy said. "Jewish organizations like Women's Philanthropy of the New Haven Jewish Federation are spreading the word about genetic testing because Jews of Eastern European decent have a higher incidence of the BRCA gene mutation than other populations. And Discovery to Cure co-sponsoring the event is a 'natural.' They are one of the most renowned research units in the world on gynecological cancers and are right here at Yale." The increased risks of BRCA gene carriers for breast (men and women), ovarian, prostate and pancreatic cancers will also be covered.
"We have come a long way from the time cancer was whispered about as the 'big C,'" Levy continued. "One hope for this symposium is to encourage women to be tested and to bring the cost of genetic testing down to make it more affordable. Women with a specific family history of gynecological cancers will face more immediate and difficult health decisions and may be able to have their insurance company cover the $3,500 price tag."
"Those of us in our 50s and 60s know someone is diagnosed with some kind of cancer all the time, many of them gynecological ones," Sklarz said. "But they don't get the recognition or the research dollars that are vital. My diagnosis of uterine cancer felt like a rite of passage, like 'This is my turn.' I wanted to be involved in this event to support Beverly and encourage ways to identify these cancers a lot earlier."
For Kate Downey Berges, a photographer from Branford, the cause is also quite personal. She will speak about the voyage she and her three sisters took when they discovered that they were BRCA 1 positive from their father's side of the family. That news hit them minutes before two of the sisters of Irish descent were diagnosed: one with breast cancer, and one with ovarian cancer. Her moving and courageous story may prompt you to examine your family history, both maternal and paternal.
Through the candidness of one of the most beautiful women in the world and her medical announcement, Angelina Jolie is truly having an effect and empowering women to be educated. A walk to raise money for all gynecological cancers is planned for Sunday, Oct. 27 on the Yale University campus, with sign-in starting at 10 a.m. at Woolsey Hall on the corners of Grove and College Streets A leisurely two mile walk, starting and ending on the Yale Commons, will focus on sight-seeing with Yale University guides, and include free parking, door prizes, snacks, fun and a great cause.
Congresswoman Rosa DeLauro, herself a 27 year ovarian cancer survivor, is the honorary chair of the walk and will cut the ribbon officially opening the walk and give some remarks.
For her part, Levy is focused on finding new ways to help recognize, treat and prevent cancer through fundraising to support research.
"It's just not good enough that doctors find cancers like my ovarian cancer by accident," she said. "It is the fifth leading cause among cancer deaths for women and there are virtually no early warning signs. While undergoing chemotherapy, I am pouring my energy into fundraising to help the doctors and researchers at Yale develop early detection screening tests so they can find cancers like mine in the early stages when they are most curable and to find more and better treatments for women who are battling gynecologic cancers. We are hoping that people will join us for this great event to help fight back against cancer and enjoy a beautiful stroll on a fall day through the Yale University campus."
Gather your family and friends, make a team and help raise money for research and testing. Go to http://DTCNewHavenWalk.kintera.org for more information. Pre-registration is encouraged.
Donations can also be sent to: Office of Development, Yale School of Medicine/Discovery to Cure Walkathon c/o Joy Carrigan, P.O. Box 7611, New Haven, CT 06519, or call: 203-415-5555
Read more!
Monday, September 23, 2013
Buy Your Tickets for ArtBra Now!
ArtBra New Haven will hold its 3rd annual live runway auction of art bras and other fine artwork on Sunday October 6, 2013, from 2:00 – 5:00PM at the Omni Hotel in New Haven, CT. Proceeds will benefit under- and uninsured patients at The Breast Center at Smilow Cancer Hospital. Doors open at 1:30, tickets are $50 and include a lavish English-style afternoon tea.
ArtBra New Haven empowers breast cancer patients to push back at the disease. This unusual take on art therapy provides a creative outlet for the emotions of cancer patients and survivors. Executive Director Gaye Hyre, herself a survivor, created the organization three years ago because “I felt the need to thank my medical team and focus on giving back to the community that was giving me so much.”
WNPR’s own Bruce Barber will return as MC/Auctioneer. The auction (both runway and silent) features bras which survivors transform into fine art objects, beautiful to boisterous, and fun to fantastical. They are vibrant celebrations of survival and “Bronx cheers” at the disease, as well as bras as objets d’art. The creations are then modeled by survivors and their supporters. Attendees can take part in the fast and furious live runway auction and bid on items in the silent gallery.
Each year ArtBra New Haven honors a person who has made a significant contribution to the breast cancer community by advocacy or research. This year, Ellen Matloff, Director of the Yale Cancer Genetics Counseling Center is being honored. Ms. Matloff prevailed as the lead plaintiff in the Molecular Pathology v. Myriad Genetics case recently before the U. S. Supreme Court, which unanimously decided to void patents on BRCA genes.
Breast cancer philanthropy gets personal - ArtBra New Haven!!
To purchase tickets, make donations, or for more information, please visit www.artbra-newhaven.org.
Click here to see the original post from Elm City Beat
Read more!
ArtBra New Haven empowers breast cancer patients to push back at the disease. This unusual take on art therapy provides a creative outlet for the emotions of cancer patients and survivors. Executive Director Gaye Hyre, herself a survivor, created the organization three years ago because “I felt the need to thank my medical team and focus on giving back to the community that was giving me so much.”
WNPR’s own Bruce Barber will return as MC/Auctioneer. The auction (both runway and silent) features bras which survivors transform into fine art objects, beautiful to boisterous, and fun to fantastical. They are vibrant celebrations of survival and “Bronx cheers” at the disease, as well as bras as objets d’art. The creations are then modeled by survivors and their supporters. Attendees can take part in the fast and furious live runway auction and bid on items in the silent gallery.
Each year ArtBra New Haven honors a person who has made a significant contribution to the breast cancer community by advocacy or research. This year, Ellen Matloff, Director of the Yale Cancer Genetics Counseling Center is being honored. Ms. Matloff prevailed as the lead plaintiff in the Molecular Pathology v. Myriad Genetics case recently before the U. S. Supreme Court, which unanimously decided to void patents on BRCA genes.
Breast cancer philanthropy gets personal - ArtBra New Haven!!
To purchase tickets, make donations, or for more information, please visit www.artbra-newhaven.org.
Click here to see the original post from Elm City Beat
Read more!
Wednesday, September 11, 2013
Has Myriad Learned Their Lesson?
Several papers have demonstrated that most physicians do not have the time or knowledge to offer their own genetic counseling to patients. There are documented cases of patients being harmed by these practices (1,2) and physicians who have subsequently been sued for mismanaging these patients (3). Over the past 15 years, Myriad Genetics has directly targeted clinicians with little to no background in genetics and encouraged them to offer their own genetic testing, without counseling by a trained and certified professional (1,2,4). Myriad has been widely criticized for this and other practices that have contributed to adverse events for patients and lawsuits for clinicians. Has Myriad learned their lesson? Or do they continue to put both clinicians and patients at risk? The evidence below suggests the latter.
1. PracticeAdvisor
Myriad recently released PracticeAdvisor, an e-learning program aimed at training general physicians and their staff on how to "implement a simple and effective hereditary cancer risk assessment protocol… to achieve the cancer risk assessment standard of care". Myriad’s PracticeAdvisor attempts to convey that genetic testing is a simple and straightforward process and fails to capture several key aspects of the genetic counseling process, contributing to the belief that anybody can order a “simple” genetic test and provide the patient with a “simple” answer.
2. Targeting Mammography Technicians
Recent emails circulating in the field indicate that Myriad plans to target mammography technicians as appropriate providers to order BRCA1/2 testing. These technicians likely have even less training in genetics than the physicians and nurses Myriad has targeted in the past. This is once again dangerous both for patients, who risk undergoing unnecessary surveillance and surgery or having false reassurance that their cancer risk is not elevated, as well as mammography technicians who could face legal action if the testing, results and/or management are not handled correctly.
3. Panel Testing
Myriad is now offering ‘panel’ testing that includes many genes as part of a single test, including several rare genes (5). If mistakes were made when Myriad was offering genetic testing for BRCA1 and BRCA2 alone, imagine what will happen when physicians and/or mammo techs begin to order and interpret these complex panels. The genes included in Myriad’s panel testing may not have a clear course of action and could present a challenge for even the most seasoned genetics expert.
4. Patent Debate
Now that the SCOTUS has made it illegal to hold a patent on human genes, the market has burst wide open to allow companies other than Myriad Genetics to offer more comprehensive testing for BRCA1/2 at more affordable prices. While this is in the best interest of the patient and will allow greater access to care for a larger number of patients, Myriad has been suing these companies (6) in what appears to be an attempt to bully them into backing down from offering the test and/or drain their financial resources.
Some studies have shown that up to 30-40% of genetic tests are being ordered in error and are costing insurers millions in unnecessary healthcare dollars (7). To avoid such gross losses, some insurance providers are now joining in the fight to shift away from the practice of non-genetics specialists ordering genetic tests. For example, Cigna has just developed a Genetic Testing and Counseling Program that will require its customers to undergo genetic counseling by a certified genetic counselor or medical geneticist prior to having genetic testing (8). This program was developed in direct response to the high cost and adverse outcomes associated with genetic testing by non-genetics specialists.
So, has Myriad learned their lesson? It appears that the answer is no, and they continue to encourage non-genetics specialists to take on the increasingly challenging role of ordering and interpreting genetic tests, at the risk of both the patients and the well-meaning clinicians they recruit.
Niki Lovick, MS & Michelle Ernst, MS
1. Brierley, K.L., Blouch, E., Cogswell, W., Homer, J.P., Pencarinha, D., Stanislaw, C.L., Matloff, E.T. (2012). Adverse Events in Cancer Genetic Testing: Medical, Ethical, Legal, and Financial Implications. Cancer Journal, 18:303-309.
2. Brierley, K.L., Campfield, D., Ducaine, W., Dohany, L., Donenberg, T., Shannon, K., Schwartz, R., Matloff, E.T. (2010). Errors in delivery of cancer genetics services: implications for practice. Connecticut Medicine, 74(7):413-423.
3. Lindor. R.A.,Marchant, G.E., O’Connor, S.D. (2011). A review of medical malpractice claims related to clinical genetic testing. Journal of Clinical Oncology, 29(15_suppl): abstract 6073.
4. Matloff, E.T., Caplan, A. (2008).Direct to Confusion: Lessors Learned from Marketing BRCA Testing. The American Journal of Bioethics, 8(6):5-8.
5. Myriad Genetics. “Myriad Genetics Launches myRisk ™ Hereditary Cancer Panel.” Myriad Press Release. 5 Sep. 2013. Web. 6 Sep. 2013. <http://investor.myriad.com/releases.cfm>
6. Noonan, K.E. “Myriad Genetics Files Law Suit Against Ambry Genetics for Genetic Diagnostic Testing of BRCA Genes.” Patent Docs. 9 Jul. 2013. Web. 6. Sep. 2013. <http://www.patentdocs.org/2013/07/myriad-genetics-files-suit-against-ambry-genetics-for-genetic-diagnostic-testing-of-brca-genes.html>
7. White-paper-1-value-of-GCs-in-lab.pdf">Miller, C.E., Krautscheid, P., Baldwin, E.E., LaGrave, D., Openshaw, A., Hart, K., Tvrdik, T. “Value of Genetic Counselors in the Laboratory.” ARUP Laboratories. Mar. 2011. Web. 3 Sep. 2013. <www.aruplab.com/files/resources/genetics/White-paper-1-value-of-GCs-in-lab.pdf>
8. National Society of Genetic Counselors. “Genetic Counseling Program Gives Cigna Customers Increased Access to Genetic Counselors.” NSGC. 23 Jul. 2013. Web. 30 Aug. 2013. <www.nsgc.org/Portals/0/Media/Genetic%20Counseling%20Program%20Cigna.pdf>
Read more!
1. PracticeAdvisor
Myriad recently released PracticeAdvisor, an e-learning program aimed at training general physicians and their staff on how to "implement a simple and effective hereditary cancer risk assessment protocol… to achieve the cancer risk assessment standard of care". Myriad’s PracticeAdvisor attempts to convey that genetic testing is a simple and straightforward process and fails to capture several key aspects of the genetic counseling process, contributing to the belief that anybody can order a “simple” genetic test and provide the patient with a “simple” answer.
2. Targeting Mammography Technicians
Recent emails circulating in the field indicate that Myriad plans to target mammography technicians as appropriate providers to order BRCA1/2 testing. These technicians likely have even less training in genetics than the physicians and nurses Myriad has targeted in the past. This is once again dangerous both for patients, who risk undergoing unnecessary surveillance and surgery or having false reassurance that their cancer risk is not elevated, as well as mammography technicians who could face legal action if the testing, results and/or management are not handled correctly.
3. Panel Testing
Myriad is now offering ‘panel’ testing that includes many genes as part of a single test, including several rare genes (5). If mistakes were made when Myriad was offering genetic testing for BRCA1 and BRCA2 alone, imagine what will happen when physicians and/or mammo techs begin to order and interpret these complex panels. The genes included in Myriad’s panel testing may not have a clear course of action and could present a challenge for even the most seasoned genetics expert.
4. Patent Debate
Now that the SCOTUS has made it illegal to hold a patent on human genes, the market has burst wide open to allow companies other than Myriad Genetics to offer more comprehensive testing for BRCA1/2 at more affordable prices. While this is in the best interest of the patient and will allow greater access to care for a larger number of patients, Myriad has been suing these companies (6) in what appears to be an attempt to bully them into backing down from offering the test and/or drain their financial resources.
Some studies have shown that up to 30-40% of genetic tests are being ordered in error and are costing insurers millions in unnecessary healthcare dollars (7). To avoid such gross losses, some insurance providers are now joining in the fight to shift away from the practice of non-genetics specialists ordering genetic tests. For example, Cigna has just developed a Genetic Testing and Counseling Program that will require its customers to undergo genetic counseling by a certified genetic counselor or medical geneticist prior to having genetic testing (8). This program was developed in direct response to the high cost and adverse outcomes associated with genetic testing by non-genetics specialists.
So, has Myriad learned their lesson? It appears that the answer is no, and they continue to encourage non-genetics specialists to take on the increasingly challenging role of ordering and interpreting genetic tests, at the risk of both the patients and the well-meaning clinicians they recruit.
Niki Lovick, MS & Michelle Ernst, MS
1. Brierley, K.L., Blouch, E., Cogswell, W., Homer, J.P., Pencarinha, D., Stanislaw, C.L., Matloff, E.T. (2012). Adverse Events in Cancer Genetic Testing: Medical, Ethical, Legal, and Financial Implications. Cancer Journal, 18:303-309.
2. Brierley, K.L., Campfield, D., Ducaine, W., Dohany, L., Donenberg, T., Shannon, K., Schwartz, R., Matloff, E.T. (2010). Errors in delivery of cancer genetics services: implications for practice. Connecticut Medicine, 74(7):413-423.
3. Lindor. R.A.,Marchant, G.E., O’Connor, S.D. (2011). A review of medical malpractice claims related to clinical genetic testing. Journal of Clinical Oncology, 29(15_suppl): abstract 6073.
4. Matloff, E.T., Caplan, A. (2008).Direct to Confusion: Lessors Learned from Marketing BRCA Testing. The American Journal of Bioethics, 8(6):5-8.
5. Myriad Genetics. “Myriad Genetics Launches myRisk ™ Hereditary Cancer Panel.” Myriad Press Release. 5 Sep. 2013. Web. 6 Sep. 2013. <http://investor.myriad.com/releases.cfm>
6. Noonan, K.E. “Myriad Genetics Files Law Suit Against Ambry Genetics for Genetic Diagnostic Testing of BRCA Genes.” Patent Docs. 9 Jul. 2013. Web. 6. Sep. 2013. <http://www.patentdocs.org/2013/07/myriad-genetics-files-suit-against-ambry-genetics-for-genetic-diagnostic-testing-of-brca-genes.html>
7. White-paper-1-value-of-GCs-in-lab.pdf">Miller, C.E., Krautscheid, P., Baldwin, E.E., LaGrave, D., Openshaw, A., Hart, K., Tvrdik, T. “Value of Genetic Counselors in the Laboratory.” ARUP Laboratories. Mar. 2011. Web. 3 Sep. 2013. <www.aruplab.com/files/resources/genetics/White-paper-1-value-of-GCs-in-lab.pdf>
8. National Society of Genetic Counselors. “Genetic Counseling Program Gives Cigna Customers Increased Access to Genetic Counselors.” NSGC. 23 Jul. 2013. Web. 30 Aug. 2013. <www.nsgc.org/Portals/0/Media/Genetic%20Counseling%20Program%20Cigna.pdf>
Read more!
Tuesday, August 20, 2013
Cigna To Require Counseling Before Extensive Genetic Tests For Cancer
Original article by Matthew Sturdevant, The Hartford Courant, 8/19/13
Cigna Corp. will require customers to get genetic counseling before the health insurer pays for extensive testing to determine if they have genes associated with breast cancer, ovarian cancer, colorectal cancer or a heart condition called Long QT syndrome.
The Bloomfield company is the first major health insurer to adopt such a policy. The change takes effect Sept. 16.
The new policy reflects a shift in thinking among medical societies and cancer groups who now believe that far more people are getting tested than those who are at risk of having genes associated with various cancers or Long QT syndrome.
In medicine, there's a wide variety of genetics testing, and Cigna will continue to pay for many tests, said David Finley, national medical officer for enterprise affordability and policy at Cigna Corp. Some tests are applicable for some patients and not others, he said.
Cigna decided to manage genetic tests for breast cancer, ovarian cancer, colorectal cancer and Long QT syndrome because the tests are commonly requested and frequently misunderstood, Finley said.
In the current system, a patient tells her doctor that she is interested in getting genetic testing to see if she has a gene associated with breast cancer. The doctor then sends Cigna some of the patient's personal medical history, and the insurer makes a determination, "yes" or "no," about the genetic testing. The insurer would inform the patient of her appeal rights, if the testing is declined.
"That standard way of doing it, we did not feel met the needs of our customers because it didn't help to educate them, and this is a very complicated test, which a lot of people — meaning doctors and patients — don't fully understand," Finley said.
Finley said there's an increasing consensus among doctors that genetic counseling should be a part of genetic testing. For one thing, board-certified genetic counselors, on average, are better informed about genetics tests than doctors, especially as the field of study grows rapidly, Finley said.
The tests, Finley said, "are coming at a fast and furious rate."
"They have a lot of implications for patients and their families, and they are hard to understand. It's a new field," he said.
The new policy requires a consultation with a trained genetic specialist to determine a patient's risk of having a gene associated with breast cancer, ovarian cancer, colorectal cancer or Long QT syndrome.
Patients may either find a genetics specialist in Cigna's network, or have a consultation over the phone through InformedDNA of St. Petersburg, Fla. The telephone counseling will take an estimated 60 to 75 minutes before the genetic testing and 30 to 60 minutes after any test deemed necessary. Before the conversation even happens, the patient provides the genetic counselor with a medical history and a family history.
Cigna will rely heavily on the recommendation of the genetics counselor when determining whether a genetic test is necessary, and what type the patient should have, the company said. A patient will still be able to appeal Cigna's decision.
The CEO of InformedDNA, David Nixon, said in a phone interview Monday that genetic counselors are master's-level experts who are board-certified in genetics.
Nixon added, "There's a wide body of literature supporting that fact, that, when it comes to genetics, the vast majority of doctors recognize that genetics is important and the vast majority of doctors self-reported that they are not prepared to offer genetics services. So, they know what they don't know."
It might be that the specialist refers the patient for a different test than the one requested. For example, a patient might be aware of testing for mutations in the BRCA gene related to breast cancer. The gene has been in the news often and recently.
"Why are the medical societies, and others that have been thoughtful about this, why are they recommending genetic counseling?" Nixon said. "One: They know what they don't know and they know they need help. Two: The physicians don't want the liability of doing it wrong."
Additionally, there is little U.S. Food and Drug Administration oversight in genetics testing compared with that of the pharmaceutical industry or other medical fields, Nixon said.
"So, it's that much more difficult for a physician that's not a specialist in genetics to know what tests, what labs, what circumstances or scenarios are appropriate," he said.
Through the years, tens of thousands of Cigna's customers have received genetic testing, which is a new and evolving field. The most extensive testing can cost between $3,000 and $4,000, although less extensive genetic testing can cost hundreds of dollars. Cigna, however, expects that the money it will save from fewer people getting tests will offset the greater cost of providing genetic counseling, Finley said.
One of the companies that does genetic testing, Myriad Genetics Inc. of Salt Lake City, conducts testing for BRCA gene mutations.
"Myriad agrees that it is important to have appropriate controls for utilization of health care in place, but there is no evidence that doctors have been over-utilizing BRCA testing for their patients," Myriad spokesman Ronald Rogers wrote in a prepared statement. "In fact, we have been working closely with Cigna to ensure appropriate testing for patients who need it, and as a result 100 percent of Cigna's patients who receive testing for BRACAnalysis meet Cigna's testing criteria."
The Angelina Jolie Effect
Dr. Otis Brawley, chief medical officer of the American Cancer Society, said that Cigna's move is the right one.
"What Cigna's doing is what everybody ought to do," he said. "We have a large number of women who are concerned that they have a mutation that puts them at risk of breast cancer, and a very small percent of them who actually do."
In recent years, Brawley said, he has received calls from women who learned that they have genetic mutations of "unknown significance." Panicked, they get a double mastectomy. Sometimes, scientific advances later reveal that those same mutations posed no increased risk.
The recent publicity about Angelina Jolie's double mastectomy has also led to an increase in women concerned about the BRCA1 and BRCA2. Jolie had the two genes, which increased her risk of breast cancer by 85 percent, Brawley said. But the news of it has caused many women to focus on the BRCA genes exclusively and ignore other risk factors. Besides the two BRCA genes, there are three genetic mutations strongly linked to increased risk of breast cancer.
"Because of Angelina Jolie, you have people with the other three mutations going to get tested for BRCA1 and BRCA2, because they've heard of them," he said.
A genetic counselor, he said, can go through a patient's family history of disease and determine whether there is cause to test for BRCA1 and BRCA2. What patients might find, instead, he said, is that they should be tested for other mutations. For instance, a family with a history not only of breast cancer but of sarcomas and leukemia would suggest a greater risk of Li-Fraumeni syndrome, a hereditary disorder with a close link to breast cancer.
Another benefit to getting counseling is cost. If a patient knows that he or she is at risk for a specific gene, Brawley said, a test that focuses solely on that one gene costs only about $400.
Brawley said there have been effective efforts to increase awareness about breast cancer in recent years. Although much good has come out of this, he said, it has also led to some anxiety about breast cancer.
"We are very concerned about some of the emotions that go into this," he said. "I think women are best served if we take a deep breath and do things in a very rational and informed manner. I think going to a genetic counselor is part of that rational and informed manner."
Dr. Ellen T. Matloff, director of cancer genetic counseling at the Yale Cancer Center, said, "Thirty [percent] to 40 percent of these tests are likely ordered in error." That's because many of the health care providers who ordered the tests, and interpreted the results, don't have a background in genetics.
Matloff said that there have been documented cases of patients who have undergone preventive procedures — such as a double mastectomy — based on genetic tests' results, only to find that those results were misinterpreted.
Other Health Insurers
Cigna Corp. is the first of the large, national insurance carriers to adopt a policy requiring genetic counseling before the tests.
UnitedHealthcare spokesman Ben Goldstein said, "We believe it's always a good idea to check with a genetic counselor" before getting the test done.
WellPoint Inc., parent company of Anthem Blue Cross and Blue Shield in Connecticut, has a policy "that genetic testing is appropriate only when offered in a setting with adequately trained health care professionals to provide appropriate pre- and post-test counseling," said company spokeswoman Jill Becher.
Amanda Mueller, a spokeswoman for the regional insurer ConnectiCare, said: "ConnectiCare does require genetic counseling as part of our genetic testing benefit, which includes coverage for BRCA and colorectal cancer. ConnectiCare's health plans are designed to support early detection, diagnosis and care management support for our members facing the challenge of cancer."
And here is the rest of it.
Click here to see the original post from The Hartford Courant
Read more!
Cigna Corp. will require customers to get genetic counseling before the health insurer pays for extensive testing to determine if they have genes associated with breast cancer, ovarian cancer, colorectal cancer or a heart condition called Long QT syndrome.
The Bloomfield company is the first major health insurer to adopt such a policy. The change takes effect Sept. 16.
The new policy reflects a shift in thinking among medical societies and cancer groups who now believe that far more people are getting tested than those who are at risk of having genes associated with various cancers or Long QT syndrome.
In medicine, there's a wide variety of genetics testing, and Cigna will continue to pay for many tests, said David Finley, national medical officer for enterprise affordability and policy at Cigna Corp. Some tests are applicable for some patients and not others, he said.
Cigna decided to manage genetic tests for breast cancer, ovarian cancer, colorectal cancer and Long QT syndrome because the tests are commonly requested and frequently misunderstood, Finley said.
In the current system, a patient tells her doctor that she is interested in getting genetic testing to see if she has a gene associated with breast cancer. The doctor then sends Cigna some of the patient's personal medical history, and the insurer makes a determination, "yes" or "no," about the genetic testing. The insurer would inform the patient of her appeal rights, if the testing is declined.
"That standard way of doing it, we did not feel met the needs of our customers because it didn't help to educate them, and this is a very complicated test, which a lot of people — meaning doctors and patients — don't fully understand," Finley said.
Finley said there's an increasing consensus among doctors that genetic counseling should be a part of genetic testing. For one thing, board-certified genetic counselors, on average, are better informed about genetics tests than doctors, especially as the field of study grows rapidly, Finley said.
The tests, Finley said, "are coming at a fast and furious rate."
"They have a lot of implications for patients and their families, and they are hard to understand. It's a new field," he said.
The new policy requires a consultation with a trained genetic specialist to determine a patient's risk of having a gene associated with breast cancer, ovarian cancer, colorectal cancer or Long QT syndrome.
Patients may either find a genetics specialist in Cigna's network, or have a consultation over the phone through InformedDNA of St. Petersburg, Fla. The telephone counseling will take an estimated 60 to 75 minutes before the genetic testing and 30 to 60 minutes after any test deemed necessary. Before the conversation even happens, the patient provides the genetic counselor with a medical history and a family history.
Cigna will rely heavily on the recommendation of the genetics counselor when determining whether a genetic test is necessary, and what type the patient should have, the company said. A patient will still be able to appeal Cigna's decision.
The CEO of InformedDNA, David Nixon, said in a phone interview Monday that genetic counselors are master's-level experts who are board-certified in genetics.
Nixon added, "There's a wide body of literature supporting that fact, that, when it comes to genetics, the vast majority of doctors recognize that genetics is important and the vast majority of doctors self-reported that they are not prepared to offer genetics services. So, they know what they don't know."
It might be that the specialist refers the patient for a different test than the one requested. For example, a patient might be aware of testing for mutations in the BRCA gene related to breast cancer. The gene has been in the news often and recently.
"Why are the medical societies, and others that have been thoughtful about this, why are they recommending genetic counseling?" Nixon said. "One: They know what they don't know and they know they need help. Two: The physicians don't want the liability of doing it wrong."
Additionally, there is little U.S. Food and Drug Administration oversight in genetics testing compared with that of the pharmaceutical industry or other medical fields, Nixon said.
"So, it's that much more difficult for a physician that's not a specialist in genetics to know what tests, what labs, what circumstances or scenarios are appropriate," he said.
Through the years, tens of thousands of Cigna's customers have received genetic testing, which is a new and evolving field. The most extensive testing can cost between $3,000 and $4,000, although less extensive genetic testing can cost hundreds of dollars. Cigna, however, expects that the money it will save from fewer people getting tests will offset the greater cost of providing genetic counseling, Finley said.
One of the companies that does genetic testing, Myriad Genetics Inc. of Salt Lake City, conducts testing for BRCA gene mutations.
"Myriad agrees that it is important to have appropriate controls for utilization of health care in place, but there is no evidence that doctors have been over-utilizing BRCA testing for their patients," Myriad spokesman Ronald Rogers wrote in a prepared statement. "In fact, we have been working closely with Cigna to ensure appropriate testing for patients who need it, and as a result 100 percent of Cigna's patients who receive testing for BRACAnalysis meet Cigna's testing criteria."
The Angelina Jolie Effect
Dr. Otis Brawley, chief medical officer of the American Cancer Society, said that Cigna's move is the right one.
"What Cigna's doing is what everybody ought to do," he said. "We have a large number of women who are concerned that they have a mutation that puts them at risk of breast cancer, and a very small percent of them who actually do."
In recent years, Brawley said, he has received calls from women who learned that they have genetic mutations of "unknown significance." Panicked, they get a double mastectomy. Sometimes, scientific advances later reveal that those same mutations posed no increased risk.
The recent publicity about Angelina Jolie's double mastectomy has also led to an increase in women concerned about the BRCA1 and BRCA2. Jolie had the two genes, which increased her risk of breast cancer by 85 percent, Brawley said. But the news of it has caused many women to focus on the BRCA genes exclusively and ignore other risk factors. Besides the two BRCA genes, there are three genetic mutations strongly linked to increased risk of breast cancer.
"Because of Angelina Jolie, you have people with the other three mutations going to get tested for BRCA1 and BRCA2, because they've heard of them," he said.
A genetic counselor, he said, can go through a patient's family history of disease and determine whether there is cause to test for BRCA1 and BRCA2. What patients might find, instead, he said, is that they should be tested for other mutations. For instance, a family with a history not only of breast cancer but of sarcomas and leukemia would suggest a greater risk of Li-Fraumeni syndrome, a hereditary disorder with a close link to breast cancer.
Another benefit to getting counseling is cost. If a patient knows that he or she is at risk for a specific gene, Brawley said, a test that focuses solely on that one gene costs only about $400.
Brawley said there have been effective efforts to increase awareness about breast cancer in recent years. Although much good has come out of this, he said, it has also led to some anxiety about breast cancer.
"We are very concerned about some of the emotions that go into this," he said. "I think women are best served if we take a deep breath and do things in a very rational and informed manner. I think going to a genetic counselor is part of that rational and informed manner."
Dr. Ellen T. Matloff, director of cancer genetic counseling at the Yale Cancer Center, said, "Thirty [percent] to 40 percent of these tests are likely ordered in error." That's because many of the health care providers who ordered the tests, and interpreted the results, don't have a background in genetics.
Matloff said that there have been documented cases of patients who have undergone preventive procedures — such as a double mastectomy — based on genetic tests' results, only to find that those results were misinterpreted.
Other Health Insurers
Cigna Corp. is the first of the large, national insurance carriers to adopt a policy requiring genetic counseling before the tests.
UnitedHealthcare spokesman Ben Goldstein said, "We believe it's always a good idea to check with a genetic counselor" before getting the test done.
WellPoint Inc., parent company of Anthem Blue Cross and Blue Shield in Connecticut, has a policy "that genetic testing is appropriate only when offered in a setting with adequately trained health care professionals to provide appropriate pre- and post-test counseling," said company spokeswoman Jill Becher.
Amanda Mueller, a spokeswoman for the regional insurer ConnectiCare, said: "ConnectiCare does require genetic counseling as part of our genetic testing benefit, which includes coverage for BRCA and colorectal cancer. ConnectiCare's health plans are designed to support early detection, diagnosis and care management support for our members facing the challenge of cancer."
And here is the rest of it.
Click here to see the original post from The Hartford Courant
Read more!
Autism's Unexpected Link to Cancer Genes
Original article from The NYTimes by Gina Kolata on 8/11/13
Researchers studying two seemingly unrelated conditions — autism and cancer — have unexpectedly converged on a surprising discovery. Some people with autism have mutated cancer or tumor genes that apparently caused their brain disorder.
Ten percent of children with mutations in a gene called PTEN, which cause cancers of the breast, colon, thyroid and other organs, have autism. So do about half of children with gene mutations that can lead to some kinds of brain and kidney cancer and large tumors in several organs, including the brain. That is many times the rate of autism in the general population.
“It’s eerie,” Evan Eichler, a professor of genome science at the University of Washington, said about the convergence.
He and others caution that the findings apply to only a small proportion of people with autism; in most cases, the cause remains a mystery. And as with nearly all genetic disorders, not everyone with the mutations develops autism or cancer, or other disorders associated with the genes, like epilepsy, enlarged brains and benign brain tumors.
But researchers say the findings are intriguing, given that there are no animals that naturally get autism, no way of analyzing what might cause autism in developing brains and no cure. The newly discovered link has enabled scientists to genetically engineer mice with many symptoms of the human disorder.
And it has led to the first clinical trial of a treatment for children with autism, using the drug that treats tumors that share the same genetic basis.
Richard Ewing of Nashville, a 10-year-old who has a form of autism caused by a tumor-causing gene, is among those in the new study. His parents, Alexandra and Rick Ewing, know he is at risk for tumors in the brain, heart, kidney, skin and eyes. But that bad news was tempered by his eligibility for the clinical trial, which has only just started.
“There is a big difference between us and the rest of the autism community,” Mr. Ewing said. “We have an honest-to-God genetic diagnosis.”
Not everyone agrees that the discovery is so promising. Steven McCarroll, a geneticist at Harvard, notes that autistic children with the cancer gene mutation have “a brain that is failing in many ways.” Autism in these children could be a manifestation of a general brain malfunction, he said, adding, “The fact that autism is one of the many neurological problems that arise in these patients doesn’t necessarily tell us anything penetrating about the social and language deficits that are specific to autism.”
But other scientists who are not involved in the research that produced these findings say the work is changing their understanding of autism and why it develops. Like cancer, autism can involve unregulated growth of cells, in this case neurons in the brain.
Jonathan Sebat, chief of the Center for Molecular Genomics of Neuropsychiatric Diseases at the University of California, San Diego, describes the parallels between cancer and autism as “quite uncanny.”
“We haven’t solved it all; we have only solved a tiny bit,” he added. “But the small bit we solved has been very illuminating.”
It was Dr. Charis Eng, a cancer geneticist at the Cleveland Clinic, who first noticed a surprising incidence of autism in children whose parents had the PTEN mutation (pronounced p-10). Eventually, investigators discovered that the rate of autism was 10 percent, about 10 times what would normally be expected.
At the same time, researchers found that another genetic disorder was even more likely to result in autism. That disorder, tuberous sclerosis, increases the risk for kidney cancer and a type of brain cancer; half of tuberous sclerosis patients had autism.
Although PTEN and tuberous sclerosis genes are not the same, they are part of the same network of genes that put a brake on cell growth. Disabling PTEN or one of the tuberous sclerosis genes releases that brake. One result can be cancer or tumors. Another can be abnormal wiring of nerve fibers in the brain and autism.
Dr. Mustafa Sahin of Boston Children’s Hospital decided to test whether drugs used to treat tumors caused by tuberous sclerosis gene mutations might also treat autism in people with the same mutated genes.
He started with mice, deleting tuberous sclerosis genes in their cerebellums. Nerve fibers in the animals’ brains grew wildly, and the mice had unusual behaviors, reminiscent of autism. They had repetitive movements and groomed themselves constantly, so much that they sometimes rubbed their skin raw. And unlike normal mice, which prefer other mice to an inanimate object, these mice liked a plastic cup just as much.
But rapamycin, which targets the tuberous sclerosis gene and blocks a protein involved in cell division, changed the animals. They no longer compulsively groomed themselves, and they no longer liked the plastic cup as much as a live mouse. The animals did better on tests of learning and memory, and the growth of nerve fibers in their brains was controlled. Now Dr. Sahin is giving a similar drug, everolimus, to autistic children with a tuberous sclerosis gene mutation, asking if it can improve their mental abilities. Richard is among the children. Each child takes the drug or a placebo for six months. The study is scheduled to be completed by December 2014.
While Dr. Eng started with cancer gene mutations and discovered a link to autism, Dr. Eichler, of the University of Washington, started with autism and found a connection to cancer genes.
He focused on what he calls “out of the blue autism,” which occurs with no family history, recruiting 209 families with autistic children.
He saw a striking genetic difference. Compared with their parents and normal siblings, the autistic children had two to three times as many mutations that disabled a gene. The mutated genes were often part of a pathway that controls cells growth. At first, the researchers thought the pathway was ubiquitous, and its link to autism was murky.
“We were a bit bummed,” Dr. Eichler said. “Then I said: ‘Wait, some of those genes are cancer genes.’ ”
But he does not yet know whether these children with autism are also at risk for cancer.
“It’s obviously a significant issue,” Dr. Eichler said. “But we need to let the science nail it first.”
The Ewings, whose son is in the autism clinical trial, have learned to live with the tumor threat. For now, their biggest problems are dealing with Richard’s autism.
When Richard’s parents heard about Dr. Sahin’sstudy, they immediately signed him up, though it meant traveling to Boston from Nashville nine times in six months. They had not dared to take their son on planes before, worried that he could not handle crowded airports.
But the study was too important to pass up, Mr. Ewing said.
“Traveling with a kid who can’t talk, who has food issues, who is not patient: we hadn’t really done these things,” Mr. Ewing said.
They hope the drug will make a difference.
“We always thought Richard has a lot going on in his brain,” Mrs. Ewing said. “We feel there is a lot of untapped potential.”
For Andrew and Lucy Dabinett’s 9-year-old son, Tommy, whose autism is caused by a PTEN gene mutation, there are no clinical trials as of yet.
Tommy, who lives with his family in Rye, N.Y., has a limited vocabulary, flaps his arms, rocks back and forth, and needs diapers.
When he was 3, a doctor told his parents that he had a PTEN mutation and that in addition to autism, he had a high risk of cancer.
“Of course it is terrifying,” Ms. Dabinett said. “But I already knew there was something terribly wrong with my child. I just needed an answer.”
“Honestly,” she said, “it was a relief to have an answer.”
Click here to see the original post from The NYTimes
Read more!
Researchers studying two seemingly unrelated conditions — autism and cancer — have unexpectedly converged on a surprising discovery. Some people with autism have mutated cancer or tumor genes that apparently caused their brain disorder.
Ten percent of children with mutations in a gene called PTEN, which cause cancers of the breast, colon, thyroid and other organs, have autism. So do about half of children with gene mutations that can lead to some kinds of brain and kidney cancer and large tumors in several organs, including the brain. That is many times the rate of autism in the general population.
“It’s eerie,” Evan Eichler, a professor of genome science at the University of Washington, said about the convergence.
He and others caution that the findings apply to only a small proportion of people with autism; in most cases, the cause remains a mystery. And as with nearly all genetic disorders, not everyone with the mutations develops autism or cancer, or other disorders associated with the genes, like epilepsy, enlarged brains and benign brain tumors.
But researchers say the findings are intriguing, given that there are no animals that naturally get autism, no way of analyzing what might cause autism in developing brains and no cure. The newly discovered link has enabled scientists to genetically engineer mice with many symptoms of the human disorder.
And it has led to the first clinical trial of a treatment for children with autism, using the drug that treats tumors that share the same genetic basis.
Richard Ewing of Nashville, a 10-year-old who has a form of autism caused by a tumor-causing gene, is among those in the new study. His parents, Alexandra and Rick Ewing, know he is at risk for tumors in the brain, heart, kidney, skin and eyes. But that bad news was tempered by his eligibility for the clinical trial, which has only just started.
“There is a big difference between us and the rest of the autism community,” Mr. Ewing said. “We have an honest-to-God genetic diagnosis.”
Not everyone agrees that the discovery is so promising. Steven McCarroll, a geneticist at Harvard, notes that autistic children with the cancer gene mutation have “a brain that is failing in many ways.” Autism in these children could be a manifestation of a general brain malfunction, he said, adding, “The fact that autism is one of the many neurological problems that arise in these patients doesn’t necessarily tell us anything penetrating about the social and language deficits that are specific to autism.”
But other scientists who are not involved in the research that produced these findings say the work is changing their understanding of autism and why it develops. Like cancer, autism can involve unregulated growth of cells, in this case neurons in the brain.
Jonathan Sebat, chief of the Center for Molecular Genomics of Neuropsychiatric Diseases at the University of California, San Diego, describes the parallels between cancer and autism as “quite uncanny.”
“We haven’t solved it all; we have only solved a tiny bit,” he added. “But the small bit we solved has been very illuminating.”
It was Dr. Charis Eng, a cancer geneticist at the Cleveland Clinic, who first noticed a surprising incidence of autism in children whose parents had the PTEN mutation (pronounced p-10). Eventually, investigators discovered that the rate of autism was 10 percent, about 10 times what would normally be expected.
At the same time, researchers found that another genetic disorder was even more likely to result in autism. That disorder, tuberous sclerosis, increases the risk for kidney cancer and a type of brain cancer; half of tuberous sclerosis patients had autism.
Although PTEN and tuberous sclerosis genes are not the same, they are part of the same network of genes that put a brake on cell growth. Disabling PTEN or one of the tuberous sclerosis genes releases that brake. One result can be cancer or tumors. Another can be abnormal wiring of nerve fibers in the brain and autism.
Dr. Mustafa Sahin of Boston Children’s Hospital decided to test whether drugs used to treat tumors caused by tuberous sclerosis gene mutations might also treat autism in people with the same mutated genes.
He started with mice, deleting tuberous sclerosis genes in their cerebellums. Nerve fibers in the animals’ brains grew wildly, and the mice had unusual behaviors, reminiscent of autism. They had repetitive movements and groomed themselves constantly, so much that they sometimes rubbed their skin raw. And unlike normal mice, which prefer other mice to an inanimate object, these mice liked a plastic cup just as much.
But rapamycin, which targets the tuberous sclerosis gene and blocks a protein involved in cell division, changed the animals. They no longer compulsively groomed themselves, and they no longer liked the plastic cup as much as a live mouse. The animals did better on tests of learning and memory, and the growth of nerve fibers in their brains was controlled. Now Dr. Sahin is giving a similar drug, everolimus, to autistic children with a tuberous sclerosis gene mutation, asking if it can improve their mental abilities. Richard is among the children. Each child takes the drug or a placebo for six months. The study is scheduled to be completed by December 2014.
While Dr. Eng started with cancer gene mutations and discovered a link to autism, Dr. Eichler, of the University of Washington, started with autism and found a connection to cancer genes.
He focused on what he calls “out of the blue autism,” which occurs with no family history, recruiting 209 families with autistic children.
He saw a striking genetic difference. Compared with their parents and normal siblings, the autistic children had two to three times as many mutations that disabled a gene. The mutated genes were often part of a pathway that controls cells growth. At first, the researchers thought the pathway was ubiquitous, and its link to autism was murky.
“We were a bit bummed,” Dr. Eichler said. “Then I said: ‘Wait, some of those genes are cancer genes.’ ”
But he does not yet know whether these children with autism are also at risk for cancer.
“It’s obviously a significant issue,” Dr. Eichler said. “But we need to let the science nail it first.”
The Ewings, whose son is in the autism clinical trial, have learned to live with the tumor threat. For now, their biggest problems are dealing with Richard’s autism.
When Richard’s parents heard about Dr. Sahin’sstudy, they immediately signed him up, though it meant traveling to Boston from Nashville nine times in six months. They had not dared to take their son on planes before, worried that he could not handle crowded airports.
But the study was too important to pass up, Mr. Ewing said.
“Traveling with a kid who can’t talk, who has food issues, who is not patient: we hadn’t really done these things,” Mr. Ewing said.
They hope the drug will make a difference.
“We always thought Richard has a lot going on in his brain,” Mrs. Ewing said. “We feel there is a lot of untapped potential.”
For Andrew and Lucy Dabinett’s 9-year-old son, Tommy, whose autism is caused by a PTEN gene mutation, there are no clinical trials as of yet.
Tommy, who lives with his family in Rye, N.Y., has a limited vocabulary, flaps his arms, rocks back and forth, and needs diapers.
When he was 3, a doctor told his parents that he had a PTEN mutation and that in addition to autism, he had a high risk of cancer.
“Of course it is terrifying,” Ms. Dabinett said. “But I already knew there was something terribly wrong with my child. I just needed an answer.”
“Honestly,” she said, “it was a relief to have an answer.”
Click here to see the original post from The NYTimes
Read more!
Thursday, August 15, 2013
Gene by Gene Joins Ambry in Countersuit Against Myriad Alleging Antitrust Violations
Original post on GenomeWeb by a GenomeWeb staff reporter, 8/15/13
Gene By Gene said today it is joining Ambry Genetics in countersuing Myriad Genetics for allegedly violating antitrust laws.
Ambry and Gene by Gene are two diagnostics shops that immediately began offering commercial testing services analyzing BRCA1 and BRCA2 genes for hereditary breast and ovarian risk after the US Supreme Court in June invalidated several of Myriad's patent claims on isolated BRCA1 and BRCA2 gene sequences. The court reasoned that DNA segments separated from the body are products of nature, which cannot be patented under US law.
Alterations in BRCA1 and BRCA2 genes are associated with a heightened risk of familial breast and ovarian cancer, and for nearly two decades Myriad was the only company offering testing for these genes helped by its patent position around such testing.
However, in the same ruling, the Supreme Court upheld a number of Myriad's patent claims on synthetic DNA, or cDNA used as probes and primers in diagnostic testing, and generally expressed support for patenting novel applications of the associations between genes and diseases. As such, Myriad believes it still has a strong patent suite, and claims that it holds 500 valid claims in 24 patents underlying its BRACAnalysis test.
Myriad sued Ambry and Gene by Gene in July claiming that by performing commercial BRCA testing, the companies were infringing patents held by it and several other organizations. Earlier this month Ambry responded to Myriad's lawsuit by filing a complaint of its own with the federal district court in Utah, alleging that Myriad is attempting to wrongfully maintain its longstanding dominance in the BRCA genetic testing market by continuing to enforce patents that are invalid; by keeping a secret database of gene-disease information; and by spreading misinformation about competitors’ tests.
Ambry and Gene by Gene believe that the Supreme Court's decision against Myriad's patent claims on isolated gene sequences has opened up the opportunity for other labs to offer BRCA testing.
"The Supreme Court was very clear that gene sequences, even when isolated, cannot be patented," Gene By Gene President Bennett Greenspan said in a statement.
Furthermore, another Supreme Court case, Mayo v. Prometheus has raised the bar for patents around diagnostic methods, and as such, many legal experts have opined that that case may negatively impact some of Myriad's method patent claims around BRACAnalysis.
In response to Myriad's lawsuit, Gene by Gene filed a declaration on Wednesday with the federal district court in Utah laying out the details of its BRCA1/2 test. Gene by Gene offers a Sanger sequencing-based BRCA1 and 2 test, while Ambry offers a number of hereditary cancer panels that include BRCA1/2 and use Illumina's next-generation sequencing platforms.
Outside the US, where it is more challenging to enforce patents around diagnostic testing, Gene By Gene has been providing BRCA testing since 2012, and the company claims it has performed up to 1 million BRCA tests globally.
Myriad is asking the Utah court to issue a preliminary injunction to stop Ambry and Gene by Gene from performing BRCA testing. The court is slated to hold a hearing in these cases in September. In the meantime, Gene by Gene said it will continue to offer BRCA testing to the public.
When Ambry countersued, Myriad responded that the antitrust allegations are baseless. Myriad recently reported fiscal year fourth quarter earnings, which showed that BRACAnalysis accounted for nearly three quarters of the company's revenues.
Myriad reported $174 million in revenues for its fourth quarter, and the BRACAnalysis and BRACAnalysis Large Rearrangement Test brought in $129.6 million and $18.8 million in revenue, respectively. BRACAnalysis revenues increased by 19 percent and BART revenues grew by 310 percent over the comparable quarter.
Click here to see the original story on GenomeWeb
Read more!
Gene By Gene said today it is joining Ambry Genetics in countersuing Myriad Genetics for allegedly violating antitrust laws.
Ambry and Gene by Gene are two diagnostics shops that immediately began offering commercial testing services analyzing BRCA1 and BRCA2 genes for hereditary breast and ovarian risk after the US Supreme Court in June invalidated several of Myriad's patent claims on isolated BRCA1 and BRCA2 gene sequences. The court reasoned that DNA segments separated from the body are products of nature, which cannot be patented under US law.
Alterations in BRCA1 and BRCA2 genes are associated with a heightened risk of familial breast and ovarian cancer, and for nearly two decades Myriad was the only company offering testing for these genes helped by its patent position around such testing.
However, in the same ruling, the Supreme Court upheld a number of Myriad's patent claims on synthetic DNA, or cDNA used as probes and primers in diagnostic testing, and generally expressed support for patenting novel applications of the associations between genes and diseases. As such, Myriad believes it still has a strong patent suite, and claims that it holds 500 valid claims in 24 patents underlying its BRACAnalysis test.
Myriad sued Ambry and Gene by Gene in July claiming that by performing commercial BRCA testing, the companies were infringing patents held by it and several other organizations. Earlier this month Ambry responded to Myriad's lawsuit by filing a complaint of its own with the federal district court in Utah, alleging that Myriad is attempting to wrongfully maintain its longstanding dominance in the BRCA genetic testing market by continuing to enforce patents that are invalid; by keeping a secret database of gene-disease information; and by spreading misinformation about competitors’ tests.
Ambry and Gene by Gene believe that the Supreme Court's decision against Myriad's patent claims on isolated gene sequences has opened up the opportunity for other labs to offer BRCA testing.
"The Supreme Court was very clear that gene sequences, even when isolated, cannot be patented," Gene By Gene President Bennett Greenspan said in a statement.
Furthermore, another Supreme Court case, Mayo v. Prometheus has raised the bar for patents around diagnostic methods, and as such, many legal experts have opined that that case may negatively impact some of Myriad's method patent claims around BRACAnalysis.
In response to Myriad's lawsuit, Gene by Gene filed a declaration on Wednesday with the federal district court in Utah laying out the details of its BRCA1/2 test. Gene by Gene offers a Sanger sequencing-based BRCA1 and 2 test, while Ambry offers a number of hereditary cancer panels that include BRCA1/2 and use Illumina's next-generation sequencing platforms.
Outside the US, where it is more challenging to enforce patents around diagnostic testing, Gene By Gene has been providing BRCA testing since 2012, and the company claims it has performed up to 1 million BRCA tests globally.
Myriad is asking the Utah court to issue a preliminary injunction to stop Ambry and Gene by Gene from performing BRCA testing. The court is slated to hold a hearing in these cases in September. In the meantime, Gene by Gene said it will continue to offer BRCA testing to the public.
When Ambry countersued, Myriad responded that the antitrust allegations are baseless. Myriad recently reported fiscal year fourth quarter earnings, which showed that BRACAnalysis accounted for nearly three quarters of the company's revenues.
Myriad reported $174 million in revenues for its fourth quarter, and the BRACAnalysis and BRACAnalysis Large Rearrangement Test brought in $129.6 million and $18.8 million in revenue, respectively. BRACAnalysis revenues increased by 19 percent and BART revenues grew by 310 percent over the comparable quarter.
Click here to see the original story on GenomeWeb
Read more!
Wednesday, August 14, 2013
BRCA 'Jewish' Cancer Gene Mutations Often Go Untested — At Deadly Cost
Original story by Karen Iris Tucker from the Jewish Daily Forward, 8/13/13
One Woman's Survival Fight Doomed By Lack of Testing
When Marcia Watson-Levy was diagnosed with breast cancer in 1997 at age 58, she suspected that heredity played a role: Her sister Rhoda had died of breast cancer 12 years before, at 52.
Yet Watson-Levy, who then lived in San Francisco, said that none of her physicians — her primary doctor, her surgeon or her oncologist — suggested during the years of her treatment that she be tested for a mutation in the BRCA1 gene, which carries a 50 to 70% lifetime risk of developing the disease, or a BRCA2 mutation, linked to a 40 to 60% risk.
Watson-Levy knew about the screening test for the BRCA mutations, then a couple of years old, but she didn’t push for it. “I assumed that I was probably positive and I didn’t see the need to initiate it myself,” she said. Adding to the likelihood that she carried a mutation was Watson-Levy’s heritage. One in 40 Ashkenazi Jews (about 2.5%) carries a BRCA mutation, compared to 1 in 300 to 500 in the general population (less than 1%).
Placing faith in her doctors that genetic testing was not important in her case, Watson-Levy underwent a mastectomy, received chemotherapy for 3 1/2 years, and then went on with her life. A devotee of silent movies, she and her now-late husband Walter jetted around the country to far-flung film festivals. They frequently sailed the California coast.
More than a decade later, however, Watson-Levy was alarmed to read in an article that carrying a BRCA mutation dramatically increased the risk of a second primary breast cancer (one unrelated to the first) as well as gynecologic cancer.
The failure to get tested became a pivotal issue in Watson-Levy’s life. It is a problem that continues today for many patients, and is one that Angelina Jolie sought to address when she announced in May that she carried the BRCA1 mutation and had taken the preventive measure of a double mastectomy.
According to a study by researchers at the University of Pennsylvania, released in April, only 53% of newly diagnosed breast cancer patients who were at high risk of carrying a BRCA1 or BRCA2 mutation, based on age, diagnosis and family history of breast or ovarian cancer, reported that their doctors urged them to be tested for the defective genes. The study findings were drawn from surveys completed by 2,258 women between the ages of 18 and 64 diagnosed with breast cancer in Pennsylvania in 2007.
Jewish women, the study found, were more likely than non-Jewish women to be referred for testing and to actually take the test.
“That could be due to greater awareness of the importance of genetic testing in the Ashkenazi community,” said lead researcher Anne Marie McCarthy. Forty-six percent of Jewish women in the study said they got tested, compared to 25% of their non-Jewish study counterparts.
Another study, published in 2010 in the Journal of Cancer Education, found that newly trained doctors had “significant deficits” in their knowledge of cancer risks and inheritance patterns. Ellen Matloff, director of Cancer Genetic Counseling at the Yale Cancer Center, said such findings are concerning because genetic counseling and testing are now an integral part of surgical decision-making and medical care for newly diagnosed breast cancer patients. “Unfortunately, many clinicians are still not aware of this shift in medical management,” she said.
Even when appropriately referred by clinicians, many patients have been thwarted by cost. Until the June 13 decision by the U.S. Supreme Court that invalidated Myriad Genetics’ patent on the BRCA gene, the test, if not covered by insurance, could cost individuals more than $4,000.
Matloff said that within five hours of the ruling, seven companies announced plans to offer BRCA testing. “One company slashed Myriad’s pricing by 50% and another promised BRCA testing for less than $1,000 in the next year,” she said.
McCarthy, the Penn study researcher, said that women with a household income of less than $30,000 were 50% less likely to have had BRCA testing than women with a household income of more than $70,000.
Kathleen Raker, a plaintiff in the Myriad case, experienced firsthand how cost has curtailed BRCA testing. Raker has a worrying family history of disease: Her mother died of breast cancer at 28. Her maternal grandmother succumbed to the disease at 52. Petrified for most of her life of developing cancer, Raker, in 2007 at age 39, received a Myriad BRCA test.
The results were negative, but her genetic counselor suggested that Raker follow up with a second Myriad test that can identify less common mutations not detected in the initial test. While health insurance had covered the first test, Raker would have had to pay out of pocket for the second, which cost $650.
Raker, who works part time from her home in Williamsport, Pa., and who pays for her own insurance, ultimately declined the second test.
“In balancing the cost of the test against everyday things, it did not seem reasonable for me to be indebted for that kind of money,” said Raker, 45, whose family had been struggling financially. She said she is “thrilled” about the outcome of the Myriad case. “I believe this will result in more comprehensive and affordable testing options, which I hope to access much sooner as a result of the decision.”
Some women referred for testing simply do not follow through. Fear and fatalism are sometimes why, said Sue Friedman, a 15-year survivor of hereditary breast cancer and executive director of Facing Our Risk of Cancer Empowered (FORCE). The not-for-profit advocates for those affected by hereditary breast and ovarian cancer.
“I meet a lot of women who say, ‘I don’t want to know,’” said Friedman. There may also be implications for other family members.
“One of my strongest messages is: ‘You don’t have to decide whether to test or not, but go see a genetics expert.’ It’s about giving people their options and information and then letting them make an informed decision.”
A survey by FORCE found that even with the Genetic Information Nondiscrimination Act, “some respondents indicated that they don’t trust insurance companies,” said Friedman. “Despite this fear, there have been few documented cases of insurance discrimination.”
Until now, access to counseling — potentially a long drive from a patient’s home — has been another obstacle to testing. Counseling is now, however, available on the Internet and by phone, according to Rebecca Sutphen, a molecular and clinical geneticist who is president and chief medical officer of InformedDNA, a nationwide network of genetic experts offering the service.
“So if you have Aetna, Cigna or United Healthcare, you can literally call an 800 number and get an appointment at your convenience in your home that will be covered by your insurance,” said Sutphen.
In 2007, after reading the article on BRCA risks, Watson-Levy spoke with a genetic counselor, who recommended that she be screened. She tested positive for a BRCA mutation, and then underwent what she thought would be preventive surgeries — removal of her remaining breast and her fallopian tubes and ovaries in a procedure called an oophorectomy. Precancerous cells were found in Watson-Levy’s previously unaffected breast. Worse, she had late-stage fallopian tube cancer.
“I had no symptoms. I had no pain,” she said. “I never would have known.”
Despite the many years of delay in learning of her genetic risk, and the missed opportunity to take preventive measures sooner, Watson-Levy believed that getting tested when she did ultimately bought her valuable time for what she called her “crusade” to raise awareness so that others can make potentially life-saving medical decisions.
“This topic of conversation is very strong in me,” she said in April, from her home in Hayward, Calif., where she was receiving hospice care. Her friend Marcia O’Kane recalled that a few weeks later, Watson-Levy was elated by Jolie’s revelation and the media attention it received.
Watson-Levy died on June 21 of fallopian cancer, surrounded by friends. O’Kane organized a celebration of Watson-Levy’s life on July 28, fittingly held at a silent film theater and museum where she and Walter had shared many moments of laughter.
Click here to see the original article on the Jewish Daily Forward
Read more!
One Woman's Survival Fight Doomed By Lack of Testing
When Marcia Watson-Levy was diagnosed with breast cancer in 1997 at age 58, she suspected that heredity played a role: Her sister Rhoda had died of breast cancer 12 years before, at 52.
Yet Watson-Levy, who then lived in San Francisco, said that none of her physicians — her primary doctor, her surgeon or her oncologist — suggested during the years of her treatment that she be tested for a mutation in the BRCA1 gene, which carries a 50 to 70% lifetime risk of developing the disease, or a BRCA2 mutation, linked to a 40 to 60% risk.
Watson-Levy knew about the screening test for the BRCA mutations, then a couple of years old, but she didn’t push for it. “I assumed that I was probably positive and I didn’t see the need to initiate it myself,” she said. Adding to the likelihood that she carried a mutation was Watson-Levy’s heritage. One in 40 Ashkenazi Jews (about 2.5%) carries a BRCA mutation, compared to 1 in 300 to 500 in the general population (less than 1%).
Placing faith in her doctors that genetic testing was not important in her case, Watson-Levy underwent a mastectomy, received chemotherapy for 3 1/2 years, and then went on with her life. A devotee of silent movies, she and her now-late husband Walter jetted around the country to far-flung film festivals. They frequently sailed the California coast.
More than a decade later, however, Watson-Levy was alarmed to read in an article that carrying a BRCA mutation dramatically increased the risk of a second primary breast cancer (one unrelated to the first) as well as gynecologic cancer.
The failure to get tested became a pivotal issue in Watson-Levy’s life. It is a problem that continues today for many patients, and is one that Angelina Jolie sought to address when she announced in May that she carried the BRCA1 mutation and had taken the preventive measure of a double mastectomy.
According to a study by researchers at the University of Pennsylvania, released in April, only 53% of newly diagnosed breast cancer patients who were at high risk of carrying a BRCA1 or BRCA2 mutation, based on age, diagnosis and family history of breast or ovarian cancer, reported that their doctors urged them to be tested for the defective genes. The study findings were drawn from surveys completed by 2,258 women between the ages of 18 and 64 diagnosed with breast cancer in Pennsylvania in 2007.
Jewish women, the study found, were more likely than non-Jewish women to be referred for testing and to actually take the test.
“That could be due to greater awareness of the importance of genetic testing in the Ashkenazi community,” said lead researcher Anne Marie McCarthy. Forty-six percent of Jewish women in the study said they got tested, compared to 25% of their non-Jewish study counterparts.
Another study, published in 2010 in the Journal of Cancer Education, found that newly trained doctors had “significant deficits” in their knowledge of cancer risks and inheritance patterns. Ellen Matloff, director of Cancer Genetic Counseling at the Yale Cancer Center, said such findings are concerning because genetic counseling and testing are now an integral part of surgical decision-making and medical care for newly diagnosed breast cancer patients. “Unfortunately, many clinicians are still not aware of this shift in medical management,” she said.
Even when appropriately referred by clinicians, many patients have been thwarted by cost. Until the June 13 decision by the U.S. Supreme Court that invalidated Myriad Genetics’ patent on the BRCA gene, the test, if not covered by insurance, could cost individuals more than $4,000.
Matloff said that within five hours of the ruling, seven companies announced plans to offer BRCA testing. “One company slashed Myriad’s pricing by 50% and another promised BRCA testing for less than $1,000 in the next year,” she said.
McCarthy, the Penn study researcher, said that women with a household income of less than $30,000 were 50% less likely to have had BRCA testing than women with a household income of more than $70,000.
Kathleen Raker, a plaintiff in the Myriad case, experienced firsthand how cost has curtailed BRCA testing. Raker has a worrying family history of disease: Her mother died of breast cancer at 28. Her maternal grandmother succumbed to the disease at 52. Petrified for most of her life of developing cancer, Raker, in 2007 at age 39, received a Myriad BRCA test.
The results were negative, but her genetic counselor suggested that Raker follow up with a second Myriad test that can identify less common mutations not detected in the initial test. While health insurance had covered the first test, Raker would have had to pay out of pocket for the second, which cost $650.
Raker, who works part time from her home in Williamsport, Pa., and who pays for her own insurance, ultimately declined the second test.
“In balancing the cost of the test against everyday things, it did not seem reasonable for me to be indebted for that kind of money,” said Raker, 45, whose family had been struggling financially. She said she is “thrilled” about the outcome of the Myriad case. “I believe this will result in more comprehensive and affordable testing options, which I hope to access much sooner as a result of the decision.”
Some women referred for testing simply do not follow through. Fear and fatalism are sometimes why, said Sue Friedman, a 15-year survivor of hereditary breast cancer and executive director of Facing Our Risk of Cancer Empowered (FORCE). The not-for-profit advocates for those affected by hereditary breast and ovarian cancer.
“I meet a lot of women who say, ‘I don’t want to know,’” said Friedman. There may also be implications for other family members.
“One of my strongest messages is: ‘You don’t have to decide whether to test or not, but go see a genetics expert.’ It’s about giving people their options and information and then letting them make an informed decision.”
A survey by FORCE found that even with the Genetic Information Nondiscrimination Act, “some respondents indicated that they don’t trust insurance companies,” said Friedman. “Despite this fear, there have been few documented cases of insurance discrimination.”
Until now, access to counseling — potentially a long drive from a patient’s home — has been another obstacle to testing. Counseling is now, however, available on the Internet and by phone, according to Rebecca Sutphen, a molecular and clinical geneticist who is president and chief medical officer of InformedDNA, a nationwide network of genetic experts offering the service.
“So if you have Aetna, Cigna or United Healthcare, you can literally call an 800 number and get an appointment at your convenience in your home that will be covered by your insurance,” said Sutphen.
In 2007, after reading the article on BRCA risks, Watson-Levy spoke with a genetic counselor, who recommended that she be screened. She tested positive for a BRCA mutation, and then underwent what she thought would be preventive surgeries — removal of her remaining breast and her fallopian tubes and ovaries in a procedure called an oophorectomy. Precancerous cells were found in Watson-Levy’s previously unaffected breast. Worse, she had late-stage fallopian tube cancer.
“I had no symptoms. I had no pain,” she said. “I never would have known.”
Despite the many years of delay in learning of her genetic risk, and the missed opportunity to take preventive measures sooner, Watson-Levy believed that getting tested when she did ultimately bought her valuable time for what she called her “crusade” to raise awareness so that others can make potentially life-saving medical decisions.
“This topic of conversation is very strong in me,” she said in April, from her home in Hayward, Calif., where she was receiving hospice care. Her friend Marcia O’Kane recalled that a few weeks later, Watson-Levy was elated by Jolie’s revelation and the media attention it received.
Watson-Levy died on June 21 of fallopian cancer, surrounded by friends. O’Kane organized a celebration of Watson-Levy’s life on July 28, fittingly held at a silent film theater and museum where she and Walter had shared many moments of laughter.
Click here to see the original article on the Jewish Daily Forward
Read more!
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