The FDA, your doctor, and direct-to-consumer genetic testing companies: Who should decide how your genetic data is gathered, shared, and interpreted?

by Erin Bove-Fenderson

Female Karyotype, 2014” by Hey Paul Studios. 1
When the Human Genome Project was launched in 1990, many people hoped that it would allow us to finally crack the code on a host of genetic diseases, giving us a way to cure or treat them.  It turns out that even with a fully sequenced genome, picking apart the genetic background of a disease to figure out the right way to treat it is not trivial. However, we do now have a much clearer picture of how our individual genes influence our health. This new knowledge base has allowed us to take a new approach to treating and diagnosing disease, an approach that is known as personalized (or precision) medicine. Personalized medicine treats the individual rather than the disease, meaning that each course of treatment is informed by a patient’s genetic background. This provides many benefits to us as patients, but it also poses some serious questions regarding how genetic information should be handled. One of the major pieces of information that is gleaned from genetic testing is our set of risk factors for disease. In this post, we will describe the impact of early personalized medicine technologies in the US, and explore the main sources of conflict between government regulatory agencies and the companies that provide genetic testing services directly to consumers.

Testing for genetic risk factors drew a large amount of media attention in 2013, when Angelina Jolie ran an op-ed piece in the New York Times that revealed that she had undergone a preventative double mastectomy in response to a blood test that revealed that she had a BRCA1 mutation that has been shown to be a significant risk factor in developing breast cancer. Her decision was a very personal one, but Jolie chose to talk about it openly in order to raise awareness about the importance of genetic testing for major risk factors. To her credit, she was trying to help other women make better health decisions by promoting early testing. It worked amazingly well – to the extent that the resulting surge in genetic testing requests was dubbed the Angelina Jolie Effect in a follow up study.

After the media attention that Jolie’s story drew, many people had become aware that their genomic information could potentially act as a life-saving early warning system. For those who were curious, but did not have the inclination (or insurance) to go through their physician, direct-to-consumer (DTC) genetic testing companies offered a more accessible option. Sparked by growing demand, some DTC companies offered testing for risk factors for specific diseases. The overlap between genetic testing and personal health drew the attention of the Federal Drug Administration, the government body that oversees health and drug regulation in the U.S. In November of 2013, the FDA issued a letter to the DTC genetic testing company 23andMe, warning the company against its marketing of tests for a host of genetic disorders and risk factors, including BRCA mutations. In the text of the letter, the FDA stated that the testing that 23andMe was offering constituted a medical device and was required to go through the usual process of approval to make sure that its results were as accurate as possible. The FDA proposed a worst-case-scenario in which incorrect results from unregulated testing could cause consumers to make poor decisions about their health – for example undergoing unnecessary surgery. 23andMe responded by ceasing their marketing campaign for disease risk factors, although they continued to provide information on ancestry and other genetic markers.

From the perspective of the FDA, DTC genetic testing companies have a responsibility to present accurate information to consumers, and beyond that, to present it in a way that minimizes negative reactions. But is there a significant difference in the ways that people respond to DTC test results compared to test results ordered by their physician? A 2014 Nature News report (following the controversy surrounding the warning letter to 23andMe) suggests that the FDA’s worries are centered on hyperbole and a misunderstanding of how people respond to their genetic information.  Charles Seife, writing for Scientific American, agreed that the danger to the consumer was over-hyped, but focused on the use of collected data as a negative aspect of DTC testing companies. A recent blog post by genetic counselor Ricki Lewis makes it clear that physicians and patients still find DTC results a reason for concern, particularly as it becomes increasingly difficult for both consumers and doctors to interpret the results of tests. Without oversight and regulation, there is a potential that DTC tests are muddying waters that are already murky from the difficulties associated with correctly interpreting the myriad genetic factors that can play a role in disease treatment. Even physician-ordered genetic testing, though assumed to be under stricter conditions of rigor and interpretation, can create a confusing and scary situation for patients when the doctors who order the tests do not know how to apply the information to treatment options.

The FDA continues to act as a watchdog over DTC testing companies, issuing more warnings late last year to three more companies regarding the health claims that they were making to sell their tests to consumers. Some companies have responded by modifying the way in which they chose to work with the FDA; 23andMe eventually navigated the non-trivial process of gaining FDA approval for testing for a genetic disorder called Bloom Syndrome. Others have responded by pointing out that their tests fall under the category of laboratory developed tests (LTDs), an area not regulated by the FDA. This gives the government agency little recourse to oversee and enforce quality control.   The FDA is currently making a case for increased oversight of LTDs, publishing a report in November 2015 that reviewed the negative potential of false results on patient well-being.  Arguments against this increase in oversight stress the idea that gaining FDA approval for each application is a long and painstaking process that many companies will try to avoid, thus stifling innovation by forcing them to focus on other applications in order to remain competitive.

The question remains whether or not DTC genetic testing provides a valuable customer service by supplementing personal health care. If consumers possess the necessary insight to interpret their results, should there not be a market that allows them access to the information? Or does the fact that medical professionals have difficulty interpreting the results of even the most reliable tests mean that government agencies like the FDA should step in to make sure that DTC tests meet a set of national standards? In the end, everyone should have access to the best standard of care, and it may become routine for genetic testing to be done with your first visit to a doctor’s office. Without guidelines for interpreting, using and distributing the massive amount of data gleaned from your genome, however, it’s hard to imagine being able to reap the full benefit. It will be extremely interesting to see how the landscape of personal medicine evolves over time, including services that target consumers directly. For now, it appears that the FDA will continue to test the limits of its oversight, and companies offering DTC genetic testing will remain cautious about how they present their findings to their customers.


For more information on personalized medicine, head over to the Personalized Medicine Coalition’s website and download their 2015 Progress Report.

To follow the Precision Medicine Initiative as it develops, sign up for updates here. Enrollment in the cohort program is set to open in 2016!

  1. Licensed under a Creative Commons Attribution 2.0 Generic (CC-BY2.0). Accessed 20 March 2016.