Here's an excerpt from FDA's Warning Letter to 23andMe:
FDA Warning Letter to 23andMe, Inc. 11/22/13
"However, even after these many interactions with 23andMe, we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses, which have expanded from the uses that the firm identified in its submissions. In your letter dated January 9, 2013, you stated that the firm is “completing the additional analytical and clinical validations for the tests that have been submitted” and is “planning extensive labeling studies that will take several months to complete.” Thus, months after you submitted your 510(k)s and more than 5 years after you began marketing, you still had not completed some of the studies and had not even started other studies necessary to support a marketing submission for the PGS.They have until December 6 to respond or:
It is now eleven months later, and you have yet to provide FDA with any new information about these tests. You have not worked with us toward de novo classification, did not provide the additional information we requested necessary to complete review of your 510(k)s, and FDA has not received any communication from 23andMe since May. 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 PGS’s uses and consumer base without obtaining marketing authorization from FDA.
Therefore, 23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorization for the device."
"Failure to take adequate corrective action may result in regulatory action being initiated by the Food and Drug Administration without further notice. These actions include, but are not limited to, seizure, injunction, and civil money penalties."Lots of questions here. If 23andMe's genome service can, as they say, determine risk for disease:
- Should insurance companies cover it? Medicare? Our taxes?
- Will patients seek care for diseases they don't have? Who will pay for that care (additional cancer screenings, blood tests, surgeries)?
- Bloomberg said the genome service market is poised to make $25 billion in the next 10 years. Those are our nation's healthcare dollars. We already spend the most per capita on health care compared to all other developed countries (sadly, we rank behind those countries in life expectancy and rates for many chronic diseases and injuries.) Will an extra $25 billion (moving from the pockets of consumers to the coffers of industry) improve our nation's health?
The disease risks produced by 23andMe's test are based on correlations. Many people claim that science based on correlation is junk science. I don't think epidemiology is junk science. As I've said often, epidemiology generates hypotheses which provide the foundation for clinical research. The question is ... how actionable is science based on correlation?
Not only are the results based on correlations, but the population used for comparison is limited ... those people who had the resources to have their genome analyzed, and who voluntarily offered their results for study. This is not a broad cross-section of the world's population. It's an elite group, characteristics of whom remain proprietary.
The above addresses external validity, that is, how generalizable results are to other people, other populations. But there is also a problem with internal validity ... how accurate is the test? The consumer spits in a tube and mails it back. Can you think of an instance where the saliva in one's mouth might not contain only the DNA of the person spitting? Can the sample degrade on its trip through our postal system? The FDA also has a problem with its validity: "we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses."
Genes do not predict risk in a vacuum. They operate in the real world. They interact with what we eat, what drugs we take, what environmental chemicals and radiation we are exposed to, how much or how little sleep and stress and exercise we experience. Love, laughter, grief, loss ... so many things affect the relationship between genes and expression of genes. Assigning risk based on genes alone is fraught. Bernard Munos at Forbes said as much:
23andMe: A Fumbling Gene In Its Corporate DNA?
"Traditional clinical research faces severe limitations and is ill-suited to help us inderstand the relationship between genotype and phenotype. ... Many flawed genes can produce the same phenotype, and disentangling what causes what is a challenge of staggering complexity."Finally, how private are the results? Insurance companies and employers have discriminated based on genome reports, even though they're not supposed to (GINA). As we now know, electronic communication is monitored in this country ... even when the communication is encrypted, even when there are laws (HIPAA) protecting medical privacy.
So many questions.