FDA Looks to Develop Regulatory Strategies for Genomic Testing

Regulatory NewsRegulatory News
| 08 September 2015 | By Michael Mezher 

To further the president's Precision Medicine Initiative (PMI), the US Food and Drug Administration (FDA) is working to develop regulatory systems for diagnostics using next generation sequencing (NGS) technologies.


Since 2014, FDA has sought input from the public on how it could develop a regulatory system appropriate for reviewing and regulating NGS technologies. The agency says it believes such a system "could potentially be applied to many other types of genomic tests."

While traditional diagnostics tend to diagnose a single, or sometimes several, diseases, NGS techniques can sequence the entire genome and can be used to diagnose or even predict multiple conditions in a single test.

However, the vast amount of data these tests create poses several issues for FDA. In a discussion paper released by the agency in December 2014, FDA writes "NGS tests can identify an essentially unlimited number of variants based on the over 3 billion base pairs that compose the human genome. Evaluating whether each data point is accurately measured would take years and thus delay the public's access to the benefit of this technology."

The agency goes on to explain that NGS tests are often used to diagnose rare genetic variations, which could make it "impractical for test developers to provide conclusive evidence supporting clinical significance."

In February 2015, FDA held its first public workshop to discuss how it could optimize its oversight of NGS diagnostics.

Next Level

Now, FDA has announced it will be hosting two public workshops on developing a regulatory system for NGS technologies. The workshops will be held on 12 and 13 November 2015 and will cover "analytic performance evaluation standards" and "challenges in clinical validation of NGS tests."

In a post to FDA Voice, Adam Berger, senior staff fellow for personalized medicine, and Zivana Tezak, associate director for science and technology at the Office of In Vitro Diagnostics and Radiological Health, write, "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 who have access to the best available results generated by the most cutting-edge medical technologies."

In the first of the two workshops, FDA hopes to tackle the issue of using standards to "assure the analytical validity of NGS tests that produce results on variation in the human genome." In the second workshop, the agency will look at ways "scientists, patient groups, and private industry can work together to develop high-quality, curated clinical databases of genomic information that will associate specific genetic changes with various diseases."

FDA Voice, Standards-Based Approach to Analytical Performance Evaluation of Next Generation Sequencing, Use of Databases for Establishing the Clinical Relevance of Human Genetic Variants


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