The Food and Drug Administration (FDA) recently held a workshop to discuss the state of human genetics and genomics testing using next generation sequencing (NGS) technologies. The agency also sought feedback from stakeholders on its proposed approach to regulate NGS diagnostic tests. NGS refers to a collection of new technologies that, together, enable rapid sequencing of large segments of DNA, even entire genomes. In her opening remarks to workshop participants, FDA Commissioner Margaret Hamburg, MD, spoke of the need to develop a dynamic regulatory process for NGS in order to preserve the rapid pace of innovation. The main goals for such a process are to allow innovation while protecting patients, to account for current technologies and practices, and to anticipate future developments in technologies and practices.
FDA faces numerous challenges in crafting regulations for NGS. Its oversight framework for in vitro diagnostics (IVDs) is based on a one-test-one-disease paradigm. NGS, conversely, can detect millions of genetic variants that could be predictive of multiple conditions or diseases. The current approval process is based on the accuracy and reliability of an IVD to detect a specific substance, but the possible variants that will be unearthed in a NGS test can’t be predicted. Furthermore, NGS involves numerous assays, instruments, and analyses and interpretations of data, all of which differ from lab to lab and will change over time. The big question is: How does FDA regulate such a fluid procedure?
To account for these difficulties, the agency is considering switching from the current premarket review process to creating benchmarks for sensitivity and accuracy sufficient for most NGS tests and uses. It is also looking into certifying individual labs as opposed to individual tests. Researchers and clinicians from both industry and academia have called for FDA to adopt a minimalist approach in developing a regulatory framework. Most support FDA setting standards for NGS instrumentation and reagents, but leaving lab certification to outside organizations, such as the College of American Pathologists and the Centers for Medicare and Medicaid Services. FDA will continue to accept feedback on its proposal until March 20, 2015. Comments can be submitted to David Litwack, PhD, of the FDA’s Office of In Vitro Diagnostics and Radiological Health.