The Potential and Pitfalls of Direct to Consumer Genetic Tests
By: Danielle Daee
At the genomic level approximately 0.1% of our genomic sequence differs from person to person. Some of these subtle genetic variations have important physiological consequences, which are reflected in our risk for developing diseases and our overall health. In recent years genome-wide association studies have sifted through individuals’ entire genomic sequences to try and identify genetic variants that are associated with increased disease risk. While these studies are highly informative, they often lack the functional studies required to close the gap between correlation and causation. After all, without knowing what the changes in a particular gene do, there is no way to understand whether that change is actually the cause of a particular disease.
Despite the caveats to interpreting correlative association studies, several biotech companies have developed direct to consumer (DTC) genomic tests to help consumers identify their personal risk for various diseases. These tests present a variety of public health policy concerns. Foremost is whether or not companies are overstating the usefulness and understating the caveats of genetic information to their consumers. Furthermore, are consumers adequately equipped to interpret the results of genomic tests without a trained professional?
In May 2010, Pathway Genomics announced a plan to offer their genetic testing services at Walgreens pharmacies. This plan marked the transition of DTC genetic testing sales from a less-accessible, internet commerce model to an over-the-counter sales model that would dramatically increase accessibility. This increased reach sparked a firestorm of public concern and triggered an investigation by the General Accounting Office, a Congressional Committee hearing, and a Federal Drug Administration (FDA) panel discussion to determine how regulation of DTC tests should proceed.
At the public FDA forum, many topics were discussed among experts representing industry and professional organizations. Concerns on both sides of the issue ranged from the needs to: (1) prioritize individual access over strict regulation, (2) include non-governmental third party oversight in regulatory design, and (3) clearly define and analyze the risks of DTC testing to temper sensationalistic media coverage.
Based on these and subsequent public communications, the FDA drafted a guidance for industry and FDA staff for In Vitro Companion Diagnostic Devices, which include genetic tests that inform treatment decisions. (This 2011 draft of this guidance is available online, but I could not find a finalized version.) This guidance stresses the importance of reliability, safety, and effectiveness in diagnostic tests and strongly encourages an early dialog between the FDA and sponsors developing the diagnostic products. However, DTC tests are not explicitly mentioned in the guidance, and there is no clear or recent policy addressing these tests on the FDA’s website.
Independent of the FDA, the National Institutes of Health (NIH) have taken the lead and developed a Genetic Testing Registry. This is a voluntary, centralized database where companies can submit genetic test information (including test name, relevant disease/phenotype, and reviews). Although this information is not independently verified, it is an important step in empowering consumers about the tests they may use. Although in its current state it seems a bit sophisticated for the average layman, perhaps future iterations of the Genetic Testing Registry will include a basic description of the science behind the tests and their caveats. These changes, more submissions by testing companies, and a simple hierarchical organization (to allow users to easily click through available tests and find those most relevant to them) will enhance this important consumer tool.
Despite the NIH’s admirable effort to give companies a legitimate platform for describing their tests, progress in the FDA seemingly has stalled. A year after public concerns were raised the FDA has failed to develop a clear policy on many available DTC genetic tests. Moving forward, the FDA needs to find a balance between protecting consumers (including weeding out tests that make outlandish claims of efficacy, empowering consumers with test reliability analysis, and encouraging consumers to seek out professional guidance in interpreting results) and allowing legitimate innovations to develop in industry. A clear policy statement from the FDA is essential to remove uncertainty and promote progress in the DTC genetic testing sector and safely empower consumers with their genetic information.