Response—Regulating Genetic Tests: Who Owns the Data?

Abstract

In our Policy Forum “Regulating direct-to-consumer personal genome testing” (8 October, p. [181][1]), we recommend a risk-stratified regulatory approach for direct-to-consumer (DTC) genetic tests. If tests are low risk (as existing data indicate for the vast majority of tests sold DTC ) then the oversight should be minimal and should focus on ensuring that consumers have accurate and truthful information. Only high-risk tests would be subject to greater oversight and enhanced scrutiny by agencies such as the U.S. Food and Drug Administration (FDA). Williams argues that this type of risk-based strategy fails to account for the impact of benefit on the tolerability of risk. We agree that benefit is an important consideration. A high-risk test that has the potential to benefit consumers significantly, and thus has proven therapeutic utility, should be cleared or approved for distribution. In fact, the sort of external data-driven review that would be required to assess benefit is precisely what the FDA would provide when evaluating a high-risk new test product. However, the primary goal of regulatory oversight is to ensure consumer safety, so regardless of the potential for benefit, a test that poses significant risk ought to be subject to external review. The data required for the review in this circumstance allow regulators to take into account both risks and benefits. Williams also argues that delayed access to a new test may prevent the introduction of life-saving diagnostics. We are not aware of any evidence that life-saving genetic tests, such as those used in newborn screening, are being delayed, but we agree that waiting for robust effectiveness data could effectively regulate DTC companies out of existence and should be avoided. We therefore believe that the FDA's premarket oversight should focus on the legitimacy of claims made and that there should be enhanced postmarket data collection and surveillance. This approach is quite flexible in terms of the amount and type of evidence required for a test to move to market. It is more hospitable to innovative tests than is the case in many other countries, such as Germany, where DTC testing has been banned. Baskys believes that all individuals have a right to receive their genetic information. We do not necessarily disagree. We simply argue that consumers need access to accurate and truthful information in order to make informed decisions. For tests that have the potential to influence important medical decisions, this includes contextual information about the individual's other risk factors, including family history, environmental exposures, and biological symptoms. We agree that there is a dearth of scientific evidence on the potential risks associated with receiving genetic information DTC; there is also a lack of evidence of the potential benefits. As noted by Baskys, there are few, if any, DTC tests that have as much predictive value as a blood pressure test or a weight scale. Indeed, available evidence tells us that genetic risk information does little to motivate healthy behavior change ([ 1 ][2]). Given this reality, it seems appropriate that the vast majority of DTC tests will not require significant oversight, as per our stratified approach. 1. [↵][3] 1. T. M. Marteau 2. et al ., “Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours” (Cochrane Database of Systematic Reviews, issue 10, 10.1002/14651858.CD007275.pub2, 2010). doi:10.1002/14651858.CD007275.pub2 [OpenUrl][4][CrossRef][5] [1]: /lookup/doi/10.1126/science.1194006 [2]: #ref-1 [3]: #xref-ref-1-1 View reference 1 in text [4]: {openurl}?query=rft.jtitle%253DCochrane%2BDatabase%2Bof%2BSystematic%2BReviews%26rft_id%253Dinfo%253Adoi%252F10.1002%252F14651858.CD007275.pub2%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [5]: /lookup/external-ref?access_num=10.1002/14651858.CD007275.pub2&link_type=DOI