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.