Earlier on in the genomics era, the U.S. Food and Drug Administration (FDA) championed the use of pharmacogenomic information to guide drug therapy use. A guidance for industry published in 2005 encouraged voluntary submission of pharmacogenomic data to FDA during the drug development process. Revised drug labeling practices were promoted in 2006 to encourage addition of pharmacogenomic data relevant to safety and efficacy.

Over the next decade, the testing market expanded, with dozens of laboratories offering pharmacogenomic testing, including many new companies focused on this testing. In 2018, FDA issued a safety communication about pharmacogenomics to consumers, followed in 2019 by the first of many FDA communications to commercial laboratories marketing pharmacogenomic tests. Testing labs largely complied with requests to modify or discontinue offering tests until they were FDA approved.

At this juncture, concerns have arisen related to the non-standard process of FDA regulation and the potential for patient harm as a result of FDA actions limiting information in the pharmacogenomic reports of many laboratories. This is creating uncertainty and may impede the advancement of an application of precision medicine that holds so much promise. In addition, there is concern over lack of consensus over the level of evidence of gene/drug associations required to support the clinical validity of pharmacogenomic tests.

On Feb 20, 2020, a group of stakeholders came together to discuss concerns over FDA regulation of pharmacogenomic testing and make recommendations. The thoughts and opinions expressed by members of the Summit are summarized in a White Paper.

Highlights include: concerns over uneven enforcement of pharmacogenomic regulation across the different labs; recognition of the shortcomings of pharmacogenomic information found in the FDA-approved drug label; widespread recognition and support for the work of CPIC; and the value of the Collaborative Community model for working with the FDA moving forward.