FDA Holds Public Workshops to Discuss Regulatory Strategies for Next Generation Sequencing Diagnostics, Part 2


As we discussed in previous FDA News articles (here and here), the Agency is in the midst of developing “novel ways to optimize its regulation of Next Generation Sequencing (NGS) tests.” The Agency’s ultimate goal is to develop a flexible and adaptive “regulatory approach that ensures that patients receive accurate and meaningful results, while accommodating innovation in test development.”

In December 2014, FDA published a paper which outlined a number of possible strategies to accomplish its goal. Earlier this month, FDA held two, back-to-back public workshops, where both of these strategies were discussed along with plans for the regulation of NGS diagnostics.

On November 13, 2015, FDA discussed the second strategy. Details and highlights from the workshop include:

Strategy 2: “Developing ways to use well-curated databases of genetic variants to guide clinical interpretation of NGS test results.”

Last Friday, FDA held the second public workshop in the series, which was entitled, “Use of Databases for Establishing the Clinical Relevance of Human Genetic Variants.” During this workshop, FDA reviewed and debated different ways for the Agency to use curated databases to establish the clinical relevance of genetic variations, and how these databases could be used in the evaluation of NGS diagnostics.

With NGS testing, we are able to sequence the human genome and identify thousands of genetic variants at an extreme rate, producing an exorbitant amount of data. Using this extreme amount of information, FDA has identified the need to determine a way to provide clinically meaningful and/or actionable results to patients using well-curated databases.

Some genetic variations occur infrequently. Accordingly, FDA is not ignorant to the possibility that it may “not be possible to prospectively identify enough individuals with the same genotype to provide the necessary sample size to demonstrate the clinical significance of particular variants,” and has proposed to solve this by the creation of standards by which the genetic databases will be collected and assembled.

Many of the workshop’s panelists and attendees agreed that the importance of having multiple people involved in curating data cannot be understated.

There were also a number of issues identified during this meeting. These include how to accomplish the following:

  • Effectively communicate different interpretations of genetic variants within the database
  • Assure database quality
  • Database curation

FDA will be accepting comments on both workshops until next Wednesday, November 25, 2015 and will also be holding two additional workshops on the subject of NGS diagnostics next year (February and March).

For more information and details of the discussion, view the webcast of the public workshop here.

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