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.

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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.”

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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.

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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

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Wednesday, August 7, 2013

Ambry Genetics Countersues Myriad Genetics Alleging Antitrust Violations

Original post by a GenomeWeb Staff Reporter on GenomeWeb Daily News

In response to Myriad Genetics' patent infringement lawsuit against Ambry Genetics, the Aliso Viejo, Calif.-based testing firm took its own legal action today by countersuing Myriad for antitrust violations.

"Myriad's lawsuit is in violation of the Sherman Antitrust Act because the asserted claims against Ambry are invalid under two [US] Supreme Court decisions and Federal Circuit authority," the company said in a statement.

In July, shortly after the Supreme Court invalidated several of Myriad's patent claims on isolated BRCA1/2 gene sequences, the company and other assignees to several patents underlying the BRACAnalysis test filed a patent infringement lawsuit in the US District Court for the District of Utah against Ambry Genetics. The patent holders allege that Ambry's testing process for gauging mutations in BRCA1 and BRCA2 associated with breast and ovarian cancer risk infringe claims in 10 patents owned or licensed by them.

Although the Supreme Court invalidated a number of Myriad's patent claims on isolated gene sequences and a lower federal circuit court ruling invalidated several broad method claims on the BRACAnalysis test, Myriad has asserted that it still holds 500 valid and enforceable claims in 24 patents. In fact, the Supreme Court upheld a number of cDNA claims and emphasized in the ruling that novel applications of the knowledge of gene-disease associations are still patent eligible. The ruling has resulted in some confusion in the life sciences industry as to the specific types of diagnostics method patents that are still valid.

Before the Supreme Court's decision, Myriad had been the only diagnostics company for nearly two decades offering BRCA testing for gauging hereditary breast and ovarian cancer risk. After the court's ruling, Ambry was the first company to launch BRCA testing. In its countersuit, Ambry asserts that Myriad doesn't have a legal basis to stop it from performing such testing.

"Myriad continues a practice of using overreaching practices to wrongfully monopolize the diagnostic testing of humans' BRCA1 and BRCA2 genes in the US and to attempt to injure any competitor who challenges Myriad's monopoly, including Ambry," the company said in a statement. "This includes conduct by Myriad of falsely representing to genetic counselors and payors as to the accuracy of Ambry's BRCA1 and BRCA2 diagnostic products."

According to Ambry, Myriad is "wrongfully depicting" the rate of variants of unknown significance for Ambry's tests to be as high as 30 percent, when "it actually is approximately 5 percent" for BRCA1/2 diagnostic testing. "Tactics like this have no place in the medical field, especially cancer, as it will take a collaborative, industry-wide effort to further understand the disease and find cures," the company stated.

Ambry alleges that Myriad's anticompetitive practices have increased the price of BRCA testing. The company claims that Myriad's BRACAnalysis test – priced at between $3,000 to $4,000 – is twice as high as the price of Ambry's products and other competitors.

In its suit against Ambry, Myriad and other patent assignees allege that several of the Ambry's tests – BRCAplus, BreastNext, OvaNext and CancerNext tests – infringe their patent claims. Shortly after Myriad sued Ambry in July, the company sued Gene by Gene, another company that began offering BRCA testing following the Supreme Court's decision, in a similar lawsuit.

"Myriad's illegal enforcement of the asserted patents has ensured that customers have virtually nowhere to turn but Myriad and its monopoly-priced products," the company said in a statement.

"We are in the early stages of the litigation with Ambry and look forward to presenting our case in court," Myriad said in a statement sent to GenomeWeb Daily News this morning. "The BRCA patent owners will demonstrate that the testing process employed by Ambry infringes 10 patents covering synthetic primers, probes and arrays, as well as methods of testing, related to the BRCA1 and BRCA2 genes.

"We believe we have a strong case based on the evidence and that Ambry's counter claims are without merit," Myriad added. "The claims at issue in this case are not the same as those in the Supreme Court case, which was a separate matter."

Meanwhile, Myriad recently expanded its financial assistance program, through which patients who qualify under the income requirements and meet the guidelines for testing will have to pay no more than $375 for its tests in out-of-pocket costs. It also noted today that it "offers free testing or financial assistance depending on a patient's level of need," and "patients' average out-of-pocket costs are less than $100."

According to Myriad, more than 35,000 patients to date have received assistance from the company to help pay for diagnostic testing.

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Monday, August 5, 2013

Yale Genetic Counselor Weighs in on Myriad Case and More: Ellen Matloff

Original post by Ayanna Monteverdi on mendelspod.com

When Ellen Matloff heard news of the recent Supreme Court decision invalidating some of Myriad's BRCA patents, she was overcome with tears. Tears of relief.

The first genetic counselor at Yale's School of Medicine, Ellen has had a front row seat to the long saga of gene patents, particularly the BRCA patents of Myriad Genetics. In today's interview Ellen recalls the days when the BRCA genes were first made known and explains the huge benefits the gene tests provided to her patients.

Then Myriad cracked down on their patents in a way Ellen calls "unprecedented" and "surreal."

Getting snubbed at every turn by Myriad--and then by her own peers for taking a position against gene patents has made this journey very personal for Ellen. Today she tells her view of gene patent history and gives her take on the burgeoning world of clinical genomics.

Click here to listen to the interview with Ellen Matloff

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Thursday, August 1, 2013

Software to Help Free Breast Cancer Gene Data

Original article written by Susan Young and published at www.technologyreview.com/view/517666/software-to-help-free-breast-cancer-gene-data/

An effort to build a public database of BRCA gene variants joins with Silicon Valley startup Syapse.

A Silicon Valley genome sciences startup has joined an initiative to help doctors interpret the risks associated with gene variants linked to breast and ovarian cancer.

Syapse develops software platforms for aggregating and structuring medical data, including genomic information, that is collected by diagnostic companies, biotech and hospitals. The idea is to create medical records that are savvy to genomics and other data-intensive biomedical information–so that doctors can better diagnose and treat patients using that data.

One way such medical records could achieve that goal is by promoting data sharing. At this early stage of medical genomics, doctors may not always know how a particular DNA variant can affect their patients’ health. What’s needed is a common database that links DNA variants to medical outcomes.

On Monday, Syapse announced that it will provide the software infrastructure necessary to create such a database for the BRCA1 and BRCA2 genes. Until this June’s ruling by the Supreme Court on gene patents, BRCA1 and BRCA2 had been patented by Myriad Genetics. The court largely overruled the company’s patents (see “U.S. Supreme Court Says ‘Natural’ Human Genes May Not Be Patented”), which freed other companies and researchers to test patients for variants in the BRCA genes.

However, as physician and medical geneticist Robert Nussbaum described in a piece he wrote for MIT Technology Review, Myriad still has control over the vital information that links variants within the genes to clinical outcomes–a private database of DNA mutations and their medical associations:

“This unparalleled record of the natural variation in these important genes, collected from patients, is claimed to be Myriad’s own intellectual property […] Having clinical reports locked up in a single laboratory, treated as intellectual property, with a black-box, nontransparent protocol for assessing the clinical significance of these variants is not good medicine.”

That power over medical data inspired Nussbaum to start an initiative to collect such information from doctors and patients on a volunteer basis (see “Free Our Genetic Data”). Nussbaum started the Sharing Clinical Reports Project about a year ago and he anticipates that the initiative will have tens of thousands of reports in the coming year. That’s where Syapse comes in– the company’s software will let doctors analyze, annotate and organize that data. In a released statement, Sharon Terry, CEO and president of Genetic Alliance, one of the founders of the BRCA data initiative, says that Syapse has the “best platform for integrating complex genomics and clinical data from disparate sources.”

The issue of data sharing is not limited to the case of the formerly patented BRCA genes. If genomics is going to change medicine, doctors from many disciplines will need to share their findings of how genetic variants impacted a patient’s disease and treatment response (see “By Simply Sharing, Doctors Could Unlock the Genome’s Potential”). Competitiveness between diagnostic companies and even hospitals may hinder data sharing, but in some cases it may come down to a lack of a convenient (and privacy-protecting) way to share such data. Companies like Syapse and its competitors could help fill that gap.

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