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The Changing Landscape of Genetic Testing Regulation


Guest post by Kirk Willmarth.

While genetic testing has been around for decades, the price of sequencing is falling and bringing genetic testing into mainstream use, which raises the issue of Food and Drug Adminstration (FDA) regulation. It has now been almost a calendar year since the FDA issued a warning letter to 23andMe. Now, the FDA has issued draft guidance on how it plans to regulate laboratory-developed-tests (LDTs) going forward, an area it has traditionally exercised discretion not to regulate. Because the regulatory environment is constantly changing, the ultimate regulatory structure remains to be seen.

On October 13, I attended a conference hosted by the Stanford Center for Law and the Biosciences entitled “How Should the US Regulate Genetic Testing?” This full day conference featured panels representing a variety of perspectives from government officials, laboratory professionals, industry leaders, and academics. Interesting points and common themes emerged, a sample of which are summarized below.

Genetic test results are often extremely complex, and understanding how to best communicate information to patients is a concern. Panelists raised questions about genome coverage (usually around 80%), the unknown significance of most genetic variants, and patient validity—whether patients and physicians understand how to interpret complex and uncertain genomic data. National Institutes of Health Deputy Director of Science, Outreach, and Policy Kathy Hudson highlighted several data collection tools (such as ClinVar and ClinGen), two public platforms developed by the NIH to collect and share medically relevant data about genetic variation.

LDTs are currently regulated by Centers for Medicare & Medicaid Services under CLIA regulations. While open to expansion of CLIA regulation, many experts expressed concerns that FDA involvement will add costs and create a dual regulatory burden, as well as slowing the pace of innovation. Pamela Bradley, a staff fellow at the FDA, explained that the evolution of the technology, marketing, and business models for genetic testing have led the FDA to assert its regulatory authority. She made clear that public comments can help the FDA remain flexible and avoid hindering innovation while navigating this rapidly changing field.

During the academic panel, Science & Society’s own Bob Cook-Deegan spoke about how the proposed regulations leave out data access and transparency analysis, which could lead to negative results for patients. Jacob Sherkow from the NY School of Law discussed the relationship between patent conventions and FDA regulation. He explained that whatever regulation format is chosen promotes a certain patent structure, and encouraged regulators to be mindful of the resulting industry landscape when crafting regulations.

Overall, the diversity of viewpoints from this single day of discussion illustrated the complexity of the issue of regulation of genetic testing. If you’d like to know more, this topic has been covered in a previous blog post, videos of the panels will eventually be posted online, and you can view tweets from the conference with the hashtag #CLBGenetics.

Kirk Willmarth holds a BS in Biology from Duke University, an MS in Developmental Biology from Stanford University, and is a candidate for Duke’s MA in Bioethics & Science Policy.