Researchers Call for Regulatory Oversight of Genomic Tests

Three researchers have suggested that the success of genomic testing depends on post-market data collection and analysis to help determine its safety and effectiveness. They further claim that Congressional action is needed to "incentivize the development of the massive data systems that doctors and regulators will need in order to make these tests safe and effective for patients." A Special Report by the researchers, based at the University of Washington School of Medicine and the University of Houston Law Center, was published in the May 27 on-line issue of the New England Journal of Medicine.

The authors say current regulatory oversight is insufficient and note that in the past Congress has acted when necessary to grant FDA additional authority. For example, the authors highlight enactment of the Food and Drug Administration Amendments Act (FDAAA), which the authors explain was in response to a need for post-market surveillance of drugs and "strengthened the power of the FDA to respond to emerging evidence" with labeling changes. The authors say the current device approval statute and regulations fall short of what's needed for genomic testing in part because it fails to require "ongoing, decades-long program of continuous learning to clarify both benefits and risks that are not yet known."

The law, bioethics and medical genetics researchers assert that genomic testing is still developing yet generates huge amounts of data and much is unknown about many of the variants it can detect. Further, they argue that existing genetic databases such as ClinVar, which the U.S. Food and Drug Administration proposed could be used to assess clinical validity, are insufficient and genomic data resources will need to be developed. "Whole-genome sequencing detects more than 3.5 million variants in a typical person, including 500,000 that are rare or novel. ClinVar, while it is an excellent data resource, currently only has about 77,000 unique genetic variants in it, and many of these are variants of unknown clinical significance," noted one of the report's authors, Wylie Burke, M.D., Ph.D., in the press release announcing the report.

The authors assert that data will need to be gathered from not just research but from commercial clinical laboratories performing tests for "large, diverse patient populations" and that developing these databases will be costly, requiring public and private funding. They conclude that the FDA doesn't have the authority under current medical device regulation to implement such data collection. Thus, they call for Congress to enact legislation that will:

• authorize development of a new genomic data system,
• enable public-private partnerships to fund the system, and
• enhance access to the data while protecting privacy.

The press release asserts that while the FDA's current powers need augmentation, "a relatively modest set of statutory reforms that builds on concepts the FDA already has developed for drugs and other medical devices could position the agency to play a crucial and constructive role." The authors conclude: "The stakes are high—high enough to warrant taking the time to get regulation right."

Takeaway: Debate about the right way to regulate genomic testing and the resources needed to do so continues.