Direct-to-consumer (DTC) genetic testing seemed to face an uncertain future after the Food and Drug Administration (FDA) in November 2013 ordered the industry’s most prominent company, 23andMe, to stop marketing its health-related genetic tests. In the wake of this setback, though, 23andMe has demonstrated surprising resilience. The Silicon Valley startup bounced back to receive the CE mark for its U.K. health reports, and to form research collaborations with pharma and biotech giants Pfizer and Genentech. Then in a true turning point, 23andMe’s Bloom syndrome carrier status test became the first DTC genetic test to receive FDA’s blessing when the agency granted marketing authorization for it in February of this year.
The implications of this authorization are far-reaching for the laboratory medicine community: not only is 23andMe here to stay, but DTC genetic testing is, too. Doubts remain, however, about granting people unmediated access to information about their genetic health risks. Critics caution that this treads a too-thin line between empowering consumers and causing confusion, unnecessary anxiety, and potentially even harm.
In responding to this concern, 23andMe’s Chief Medical Officer Jill Hagenkord, MD, FCAP, clarifies misconceptions about DTC genetic testing, 23andMe’s offerings, and the role that the company envisions healthcare providers playing in the DTC testing process.
Q:23andMe co-founder and CEO Anne Wojcicki mentioned in Forbes recently that making it mandatory for people to see a genetic counselor or doctor about their 23andMe results is antithetical to the company’s philosophy. Could you explain more about why that is?
We believe it is your right to have access to your genetic information. Mandatory doctor visits around 23andMe results create barriers between the individual and his or her own self-discovery. While we do not condone self-diagnosis and treatment, we do promote individual empowerment and taking charge of understanding one’s health and genetic information.
There are circumstances in which we would encourage an individual to seek a physician’s input. For example, no one should make adjustments to medication or make major medical decisions without seeking the counsel of a physician. Our test is also not a diagnostic. If you think you have Bloom syndrome, you should not take a 23andMe test to determine that. You should see a physician. So there is certainly a role for the medical professional to play.
We encourage our customers to share their genetic information with their doctors, or a genetic counselor where appropriate. It can be a real teachable moment with regard to lifestyle management and healthy behaviors. In fact, we offer our customers information on how to seek genetic counseling if that’s a choice they make.
Q:How are you responding to the fears of the healthcare community and the public about DTC genetic testing?
Anytime you’re doing something new and innovative there are fears that arise. Some have cited concerns around whether or not consumers can understand and/or handle genetic testing information outside of a clinical setting. Recent studies have looked into consumer response to DTC genetic test results, however, and their findings suggest that it does not lead to inappropriate treatment or long-term psychological distress (Nature 2014;505:286–7 and J Med Genet 2013;50:393–400).
In our ongoing approach to health and trait reports, we have focused on genetic variants with well-established clinical validity and supported by substantial research. We have also consulted with a number of the most respected stakeholders in the scientific community and professional associations to ensure we are as well informed as possible and deliver an optimal service.
For example, we worked with FDA to ensure that the results of our Bloom syndrome carrier status test report meet the agency’s requirements to demonstrate accuracy, validity, and user comprehension. In a press release, FDA said, “This is the same approach the FDA has taken with other over-the-counter consumer products such as pregnancy, cholesterol, and HIV tests for home use.”
Q:Has 23andMe submitted more tests for FDA review since last year, when the company submitted a Bloom syndrome test to FDA for 510(k) review?
Since interactions with FDA are ongoing, we cannot discuss future submissions at this time. We are pleased that in February of this year FDA granted marketing authorization for 23andMe’s Bloom syndrome carrier status test report through the de novo pathway. In addition to the authorization to market the Bloom syndrome carrier status test report, FDA is also classifying autosomal recessive carrier screening tests as class II with the intention to exempt such carrier tests from FDA premarket review. Future submissions will be based in part on what we learned during the Bloom syndrome review process. We don’t have any specific timing for additional report submissions.
Q:One critique of 23andMe’s health-related tests is that they were not accurate enough or were incomplete. What is your response to this and how does 23andMe plan to tackle this issue moving forward?
The marketing authorization through de novo pathway granted by FDA for the Bloom syndrome carrier status test report required robust validation data covering major components of our product such as the genotyping chip, software, and saliva kit.
As detailed by FDA in a press release, “23andMe performed two separate studies to demonstrate that their test is accurate in detecting Bloom syndrome carrier status. One study conducted at two laboratories tested a total of 70 unique samples, including samples from known carriers of the disease. An additional study evaluated 105 samples at the same two laboratories. Both studies showed equivalent results in detecting carrier status of Bloom syndrome when the same samples were tested.”
Overall, we are committed to following a regulatory path with FDA for all of our health reports.
Q:23andMe has also recently entered a number of genetic data sharing partnerships. How do you see these partnerships impacting patients and advancing medicine?
To date, our active research community has enabled 23andMe to identify hundreds of new genetic associations. The company has published or contributed to 32 studies in peer-reviewed, scientific journals over the past 5 years alone. At the same time, 23andMe works to help individuals with debilitating disease participate in research, to better target subgroups of patients, and to make advances in medicine happen faster.
Of note, participation in our research program is entirely voluntary and we also ensure our customers’ privacy is protected.
Q:Out of all of the genome-wide association studies 23andMe has published, which one do you feel has been the most significant so far and why?
We have the largest Parkinson’s disease research cohort in the world—more than 11,000 Parkinson’s patients have signed up to fight the disease through research. Working in collaboration with these patients, we’ve been able to replicate well-established genetic associations with Parkinson’s, and we have also found two new genetic associations with the disease. These associations may further our understanding of the causes of the disease, as well as lead us to potential targets for treatment.
We’ve also done research on common but understudied illnesses such as allergies, motion sickness, and skin disease. Genetics have the potential to not only transform how we treat complex diseases for which there are no known cures, but also some of these more common maladies that affect large portions of the population.