Update: Streamlining Regulatory Oversight for Next Generation Sequencing Tests
In support of the White House’s Precision Medicine Initiative, the FDA issued two draft guidances that offer a streamlined approach to the oversight of 'Next Generation Sequencing' tests that detect medically important differences in a person’s genomic makeup.
- Overview of the Draft Guidances on Next Generation Sequencing Tests
- Draft Guidance: Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases (PDF - 707KB)
- Draft Guidance: Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (PDF - 499KB)
- September 23, 2016 Public Workshop - Adapting Regulatory Oversight of Next Generation Sequencing-Based Tests
FDA's Role in the Precision Medicine Initiative
Most medical treatments are designed for the "average patient " as "one-size-fits-all-approach," that is successful for some patients but not for others. Precision medicine, sometimes known as "personalized medicine" is an innovative approach to disease prevention and treatment that takes into account differences in people’s genes, environments and lifestyles.
Advances in precision medicine have already led to powerful new discoveries and several new FDA-approved treatments that are tailored to specific characteristics of individuals, such as a person’s genetic makeup, or the genetic profile of an individual’s tumor. Patients with a variety of cancers routinely undergo molecular testing as part of patient care, enabling physicians to select treatments that improve chances of survival and reduce exposure to adverse effects.
To advance these developments, President Obama’s Precision Medicine Initiative seeks to identify genetically-based drivers of disease in order to develop new, more effective treatments. FDA’s role is to ensure the accuracy of genetic tests, many of which are derived from next generation sequencing, a rapid and fairly inexpensive technology that collects data on a person’s entire genome. Researchers are combing through segments of this data to look for genetic variants, potentially meaningful differences that might eventually result in a treatment.
What FDA is Doing Now
However, the vast amount of information generated through next generation sequencing (NGS) poses novel regulatory issues for FDA. Recognizing these challenges, FDA is at work on a workable regulatory platform that will encourage innovation while ensuring accuracy. To get there, we’ve been issuing discussion papers, holding workshops and collaborating with our stakeholders.
FDA's Informatics Platform
In addition, FDA has created precisionFDA, a community research and development portal that allows for testing, piloting, and validating existing and new bioinformatics approaches to NGS processing.
Please contact us with any questions about FDA’s role in the Precision Medicine Initiative at PMI@fda.hhs.gov.
What FDA Officials Are Saying
NGS Draft Guidances
Reports and Discussion Papers
- Optimizing FDA’s Regulatory Oversight of Next Generation Sequencing Diagnostic Tests (PDF - 424KB)
Paving the Way for Personalized Medicine(PDF - 854KB)
- Developing Analytical Standards for NGS Testing (PDF - 164KB)
- Use of Databases for Establishing the Clinical Relevance of Human Genetic Variants (PDF - 156KB)
- 07/27/16: Webinar - Next Generation Sequencing (NGS) Draft Guidances: Implications for Patients and Providers
- 07/27/16: Webinar - Next Generation Sequencing (NGS) Draft Guidances: Technical and Regulatory Aspects
- 03/02/2016: Public Workshop - Patient and Medical Professional Perspectives on the Return of Genetic Test Results
- 02/25/2016: Public Workshop - Next Generation Sequencing-Based Oncology Panels
- 11/13/2015: Use of Databases for Establishing the Clinical Relevance of Human Genetic Variants
- 11/12/2015: Standards Based Approach to Analytical Performance Evaluation of Next Generation Sequencing In Vitro Diagnostic Tests
- 02/20/2015: Optimizing FDA’s Regulatory Oversight of Next Generation Sequencing Diagnostic Tests Public Workshop
- 09/24-25/2014: Next Generation Sequencing Standards