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.”

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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.

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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.
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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
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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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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


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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.

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