September 21, 2015 — The U.S. Food and Drug Administration (FDA) will hold a pair of public workshops in November to explain ongoing efforts to develop regulations and standards for next-generation sequencing (NGS)-based clinical tests. The focus on NGS tests is part of President Obama’s Precision Medicine Initiative (PMI) to help customize healthcare for individuals based on genetic makeup.
Many current efforts toward healthcare customization have focused on analyzing and interpreting a person’s unique genetic makeup, according to Adam C. Berger, Ph.D., senior staff fellow on the Personalized Medicine Staff at FDA’s Office of In Vitro Diagnostics and Radiological Health. In a post on the FDA blog FDAVoice — co-written with Zivana Tezak, Ph.D., associate director for science and technology in the same office — Berger noted NGS technologies have significantly advanced the ability to derive more comprehensive genetic information on individuals in a relatively inexpensive and fast manner.
The first workshop, held Nov. 12, will focus on analytical performance evaluation standards, including potential ways to develop these standards, which can be used by test developers to ensure their tests produce accurate, reliable results.
The second workshop, held Nov. 13, will address current challenges in clinical validation of NGS tests. A single company, lab or institution is unlikely to have enough information to definitively determine the clinical importance of test results. The aggregation of clinical information in curated databases will create a “data commons” that could serve as a reliable source of scientific evidence that test developers could use to demonstrate that NGS test results are relevant to a person’s disease or outcome. The workshop will highlight how scientists, patient groups, and private industry can work together to develop high-quality, curated clinical databases of genomic information that associate specific genetic changes with various diseases, such as cardiovascular disease or diabetes.
FDA first addressed the issue in December 2014 in a preliminary discussion paper, describing how it might go about creating a modern, flexible and dynamic regulatory system for NGS, which could potentially be applied to many other types of genomic tests. The agency received comments from a variety of stakeholders at a February 2015 workshop
In advance of these workshops, FDA will be releasing additional discussion papers informed by public input, which will also include some general questions for stakeholder consideration. These documents will provide a high level overview of regulatory considerations for the development of analytical standards and the use of curated clinical databases to support NGS test submissions.
For more information: www.fda.gov
January 23, 2024 
