FDA gives DTC genetic tests a partial restart

July 25, 2017

The direct-to-consumer (DTC) genetic testing industry has been around for just over a decade. The U.S. Food and Drug Administration (FDA) has successively ignored it, worried about it, paused it, and limited it; as of now, it appears to be encouraging it. Whether the agency has now settled on the appropriate kind and extent of oversight it will apply remains to be seen.

The most prominent company offering DTC genetic tests is 23andMe, founded in 2006. Aggressive marketing, deep pockets, a Google connection, and effective management quickly made it the market leader. As such, its relationship with the FDA sets the tone for regulation of the whole industry.

Direct-to-consumer genetic testing has always been controversial, with many observers documenting exaggerated marketing claims and unreliable reports to its customers, and asserting the need for expert medical analysis and explanation of any results. Finally, in November 2013, the FDA sent 23andMe a remarkably stern “cease and desist” order.1

The FDA action did not put the company out of business. In fact, 23andMe continued to expand internationally, while resuming negotiations with the FDA. It struck multi-million dollar deals to provide its customers’ genetic data to pharmaceutical and biotechnology companies, and raised $115 million in additional venture capital.2

In the United States, 23andMe continued to offer DNA ancestry tests, as do many other companies. The FDA takes a hands-off approach to this sector, since any errors are unlikely to have a significant effect on public health. However, the ancestry tests sometimes produce disconcerting results, such as identical twins with different ancestries.3

In October 2015, the FDA announced a crack in the medical-test ban: It gave permission for 23andMe to market 36 tests of “carrier status.” These are aimed at people concerned about passing recessive genes on to their children. The diseases in question include cystic fibrosis, sickle cell anemia, and Tay-Sachs. The press release announcing the change included various disclaimers, notably: “On their own, carrier status tests are not intended to tell you anything about the health of your fetus, or your newborn child’s risk of developing a particular disease later in life.”4

In other words, medical tests of this particular nature may be useful but generally need sophisticated interpretation. Despite those words of caution, however, the 2015 partial approval was the beginning of a shift in attitude by the agency.

On April 6, 2017, the FDA opened the door to full-blown diagnostic DTC testing. The permission was limited—for the moment—to risks for 10 specific diseases, including Parkinson’s, Alzheimer’s disease (AD), and celiac disease.5 (Stuart Goldberg, a hematologist and oncologist at the John Theurer Cancer Center, Hackensack University Medical Center, acerbically noted that these are “diseases with public fear factors.”6) The FDA’s announcement strongly implied that more approvals were on the way, in a streamlined application process.

In its public statements about the approval, the FDA, like the company, includes caveats. This is the second paragraph of the agency’s press release:

“Consumers can now have direct access to certain genetic risk information,” said Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health. “But it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”

Many health professionals remain skeptical. The American College of Medical Genetics and Genomics (ACMG) strongly recommends that medical professionals always interpret genetic results, and disagrees with the FDA about at least some of their decisions. For instance, the late-onset Alzheimer’s risk allele APOE4 “is neither necessary nor sufficient to cause AD,” and there’s no way to prevent or really mitigate the risk conferred by the marker.7

Professional genetic counseling can help, but is often unavailable. According to the U.S. Department of Labor, in 2014 there were only 2,400 genetic counseling jobs, and the projection was for 3,100 by 2024.8 23andMe alone claims more than two million genotyped customers. The company trusts the customer to check with physicians, but there simply aren’t enough specialists.

Moreover, there have been several instances where different companies have tested the same patient and offered quite different, sometimes contradictory assessments.9 Perhaps the tests have improved, though a January 2017 article in Genetics in Medicine raises serious doubts. The authors found “a very limited body of evidence about the effect of using genomic tests on health outcomes and many evidence gaps.”10

Overall, the ACMG says that the FDA’s recent move “has significantly changed the landscape of genetic testing.” That seems undeniable. In a broader political environment where major figures, including the new head of the FDA, have suggested that the agency has over-emphasized its mission of preserving public health at the expense of its other mission of bringing products to market, that is concerning.

Genetic analysis for medical reasons can be critical in some situations, and its utility may grow in the future. But at least for now and probably for the long run, it needs careful regulation. Many believe the recent FDA ruling goes too far. Surely, the situation bears watchful waiting.


  1. Darnovsky M, Cussins J. FDA halts 23andMe personal genetic tests. MLO. 2014;46(3):33 https://www.mlo-online.com/fda-halts-23andme-personal-genetic-tests.php.
  2. Herper M. 23andMe wins a second life: new business plan scores $115 million from investors. Forbes. November 2, 2015. http://bit.ly/2rYovAt.
  3. Inside Edition. How reliable are home DNA ancestry tests? Investigation uses triplets to find out. CNN. February 21, 2017. http://ietv.co/2rwRXNL
  4. 23andMe Launches New Customer Experience. 23andMe. October 21, 2015. http://bit.ly/2tSse45.
  5. U.S. Food and Drug Administration. FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. April 6, 2017. http://bit.ly/2oIy6gc.
  6. Goldberg S. This is the direction direct-to-consumer genetic testing needs to take. MedCityNews. May 2, 2017. http://bit.ly/2qFuY2j.
  7. Ray T. ACMG guidelines at odds with FDA green light for 23andMe health risk tests. Genome Web. April 11, 2017. http://bit.ly/2sdNC6H.
  8. U.S. Department of Labor Bureau of Labor Statistics. Genetic Counselors. Occupational Outlook Handbook. http://bit.ly/2tSnNG9.
  9. Shanks P. Hit-and-miss genetic testing. Biopolitical Times. January 20, 2014. http://bit.ly/2sisxCY.
  10. Phillips KA, Deverka PA, Sox HC, et al. Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research. Genet Med. 2017;Apr 13. doi: 10.1038/gim.2017.21.

Pete Shanks is a consultant for the Center for Genetics and Society and has been writing about the social implications of genetic research for many years.