Wednesday, December 4, 2013

Class Action Law Suit Filed Against 23andMe

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:


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.

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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.

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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

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