FDA Taking Genomic Testing to the Next Level

By: Adam Berger and Zivana Tezak

President Obama’s Precision Medicine Initiative (PMI) envisions a day when the specific differences between people – genetic, environmental, lifestyle – will be used to customize the healthcare that we receive. Many of the current efforts toward achieving this goal have focused on analyzing and interpreting a person’s unique genetic makeup, including the identification of genetic alterations that may impact his or her health.

Adam Berger

Adam C. Berger, Ph.D., is Senior Staff Fellow on the Personalized Medicine Staff at FDA’s Office of In Vitro Diagnostics and Radiological Health, Center for Devices and Radiological Health

Next generation sequencing (NGS) technologies have significantly advanced the ability to derive more comprehensive genetic information on individuals in a relatively inexpensive and fast manner. In order to help achieve the goals of the PMI, FDA is developing new regulatory strategies for NGS-based clinical tests. We aim to ensure that these tests provide accurate, reproducible, and meaningful results relevant to a person’s medical condition while continuing to foster innovation so that people have access to the best available results generated by the most cutting-edge medical technologies.

In December 2014, we issued a preliminary discussion paper describing how FDA 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. We expanded on this discussion by holding a workshop in February 2015 with a variety of stakeholders and received many helpful comments. To further advance this stakeholder conversation, we are holding two back-to-back public workshops on November 12th and 13th, 2015. The first 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 and reliable results. We believe that stakeholder input about ongoing community standardization efforts is essential to construct flexible analytical evaluation approaches for a wide variety of NGS tests and modifications.

Zevana Tezak

Zivana Tezak, Ph.D., is Associate Director for Science and Technology at FDA’s Office of In Vitro Diagnostics and Radiological Health, Center for Devices and Radiological Health

The second workshop 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.

In advance of these workshops, FDA will be releasing additional discussion papers informed by public input we have received, 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.

We look forward to engaging with the public on these important issues to ensure that advances in precision medicine rapidly turn into treatments that benefit everyone.

For more information:

President’s Precision Medicine Initiative

Sign up for the workshops or related webinars:

“Standards-Based Approach to Analytical Performance Evaluation of Next Generation Sequencing In Vitro Diagnostic Tests”

“Use of Databases for Establishing the Clinical Relevance of Human Genetic Variants”

Adam C. Berger, Ph.D., is Senior Staff Fellow on the Personalized Medicine Staff at FDA’s Office of In Vitro Diagnostics and Radiological Health, Center for Devices and Radiological Health

Zivana Tezak, Ph.D., is Associate Director for Science and Technology at FDA’s Office of In Vitro Diagnostics and Radiological Health, Center for Devices and Radiological Health

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