[Editor’s Note: Daniel MacArthur, a researcher at the Wellcome Trust Sanger Institute in Cambridge, UK, and the author of Genetic Future, co-wrote this post.]
Are you ready for consumer genetics? Is your government?
Recent announcements of federal investigations into the budding direct-to-consumer (DTC) genetic testing industry suggest that authorities are preparing to increase regulation of companies offering consumers access to their own genetic data. However, rather than rushing in to clamp down on the industry, regulators should slow down and focus, first, on understanding this complex field.
An increasing number of individuals are exploring their genetic information using tests purchased directly over the Internet. For between $100 and $1,000 consumers can purchase a saliva collection tube, spit in the tube, and mail it back to the company. A few weeks later the results are available online. One DTC genetics company, 23andMe, recently announced that it had provided its test to over 30,000 customers.
Genetic tests can provide the consumer with personalized information ranging from eye color, to ancestry, to risk of common diseases such as diabetes. Many companies include all of these traits and more in a single product examining hundreds of thousands of genetic markers. For the moment, these tests are available to anybody with a computer and a sense of curiosity. But that could all change.
Regulators Take Note
Over the past month, both the FDA and Congress have launched independent investigations into the DTC genetic testing industry. Both have sent letters to a number of prominent DTC companies and, last week, the FDA announced its intent to bring sweeping regulatory changes to the entire genetic testing industry. Countless biotechnology companies and investors are now watching and waiting to see what the FDA will do next, beginning with a public meeting next month in Washington, D.C. where the agency will begin to outline its new regulatory vision for genetic tests.
The proximate trigger for this flurry of regulatory activity was an announcement last month by San Diego-based DTC company Pathway Genomics that it would be offering its products on the shelves of pharmacy giant Walgreens. The initial controversy created by the Pathway announcement soon gave way to a broader debate centered on how to make genetic information—in particular genetic information relating to complex and serious medical conditions, such as cancer or Alzheimer’s disease—available to patients and consumers.
At present, most DTC genetic tests are not regulated at the federal level, although the labs in which testing is carried out are required to meet federal quality standards to ensure their accuracy. Critics of DTC testing argue that the safety and efficacy of these tests has not been demonstrated, and that the potential risks—such as consumers making ill-advised lifestyle decisions based on genetic misinformation—mean that individuals should have access to their own genome only under the direct supervision of a physician or genetic counselor. Such critics support increased federal regulation of DTC genetic tests, particularly by the FDA.
Proponents of DTC genetic testing, on the other hand, believe that individuals have a right to explore their own genetic information without needing the permission of their doctor, and contend that tight FDA regulation would unnecessarily restrict individuals’ access to their own genetic information in advance of conclusive data that these tests present a real risk of harm to consumers. Supporters argue that DTC testing companies are a rich source of much-needed innovation in key areas important to the development of personalized genetic medicine, especially through the presentation of complex genetic data to non-experts. There’s little doubt that excessive regulation would have a stifling effect on this innovation.
A Transparent Solution
So which group is correct, and what should regulators do?
