The FDA issued two final NGS test guides today, what did they say?

Release date: 2018-04-13

Today, the FDA has identified two final guidelines to facilitate the efficient development of Next Generation Sequencing (NGS) technology and to guide related treatments. The guide provides advice on the design, development and validation of NGS technology and will play an important role in advancing individualized care.

NGS detects whether a person has or may have a genetic disease by detecting genomic variation. In some cases, it also helps guide medical decisions. Traditional diagnostic methods are often able to detect chemical changes associated with a single disease, while NGS can view millions of DNA changes in a single test to help determine the cause. This type of testing plays an important role in the development of precision medicine.

The first guide released today is "Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics." It provides a way for developers to use clinical evidence from FDA-approved public databases to support clinical claims for their testing and to provide an accurate clinical assessment of genomic test results. This guide explains how product developers use these databases to support the clinical validation of the NGS tests they are developing. These public databases include resources such as ClinGen maintained by the National Institutes of Health (NIH). Using an FDA-approved database will provide an effective way for developers to obtain approval or marketing approval for new tests.

The second guide released today is "Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS) - Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases". It provides advice for the design, development, and validation of NGS tests for the diagnosis of patients with suspected genetic diseases. It describes the pre-marketing submissions reviewed by the US FDA to determine the analytical validity of the test, including the test for the presence or absence of specific genomic changes.

Dr. Scott Gottlieb, FDA Director of the United States (Source: FDA Official Website)

“With the rapid development of disease detection technology, FDA review of these innovative technologies needs to be developed,” said FDA Director Dr. Scott Gottlieb. “The new policy released today provides a modern and flexible framework for generating support for FDA review. NGS tests the required data and provides developers with new tools to support the efficient development and validation of these technologies."

“The rapid adoption of NGS technology in research and clinical settings helps identify numerous new genetic variants. However, information about genetic variation is usually stored in a non-public manner. The final guidance on the genetic variation database published today by the FDA will have Helps change this model and encourages evidence sharing in data sharing and public databases to support the clinical effectiveness of genomic testing to help provide more effective market access,” said Dr. Jeffrey Shuren, Director of the FDA Device and Radiation Health Center.

The release of these final guidance is based on extensive feedback from the public and NGS technology developers, which will help FDA improve regulatory efficiency in developing and reviewing NGS testing. In the past year, the FDA has taken a number of actions to simplify the development and review of various genetic tests, including authorizing third parties to review NGS tumor analysis tests and submit recommendations to the FDA, as well as outlining the development criteria for carrier screening tests so they can Marketing without prior institutional review. The FDA has also established genetic health risk testing standards and recommends allowing marketing after a one-time institutional review.

The FDA said that as NGS technology continues to evolve, they are committed to adapting their regulatory review capabilities and leveraging their authority to provide patients with innovative and accurate testing techniques as effectively as possible.

Source: WuXi PharmaTech

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