Written by Bill Finger, Managing Director, Kineticos

My previous article detailed the recent FDA guidance document, which provides recommendations for the development and validation of Next Generation Sequencing (NGS) based tests. Below is a snapshot of the performance metrics to be analyzed:

  • Accuracy
  • Precision
  • Limit of Detection
  • Analytical Specificity
  • Coverage
  • Test Run Metrics and Performance Thresholds
  • General Recommendations for Performance Evaluation Studies
  • Supplemental Procedures
  • Variant Annotation and Filtering
  • Presentation of Test Performance
  • Test Reports

This guidance is a good step in educating labs, instrument manufacturers, and other entities in developing and validating NGS based tests, but it leaves many questions.

I would like to point out a couple shortcomings of the FDA Guidance document:

Premarket Approval

The guidance document may help those companies that are going for premarket review of new tests, but the FDA has not required companies to go through a premarket review, so companies are still treating NGS based tests as lab developed tests (LDTs) that are not required to go through FDA approval. As there is no clear definition of what types of companies (labs, instrument manufacturers, informatics companies) will be subject of review, adoption will be limited early on.

Assay Types

Companies must determine what tests they should take through FDA approval. Many types of tests are not even applicable to the draft guidance. For example, cell-free DNA testing, screening tests, and companion diagnostic test are not included in the guidance document. This creates challenges, especially for smaller companies, in determining what tests to take through the FDA and what tests to avoid the cost and time involved with gaining FDA approval.

These are just a couple of the limitations. Companies that are in the NGS space may have technical clarity on how the FDA will look at the development and validation packet submitted. However, some may want to consider treating assays as LDTs and steering clear of the FDA until there is more clarity around the guidelines.

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Bill Finger, Managing Director of Kineticos’ Diagnostics Practice, brings 20 years of diagnostics and laboratory experience to the team.  His team is focused on helping diagnostic companies maximize their commercial potential at the corporate and product levels while ensuring companies operate in an efficient manner.

Contact Bill