FDA News: Precision Medicine, Next Gen Sequencing Guidances – Drug and Device Digest

FDA BRIEF: Week of   July 4, 2016 

FDA advances Precision Medicine Initiative by issuing draft guidances on next generation sequencing-based tests

In support of the President’s Precision Medicine

Two draft guidances for next generation sequencing (NGS)

  • New technology to scan a person’s DNA to detect genomic variations for risk of disease
  • Conventional diagnostics provide limited  measure of disease/conditions
  • NGS can examine millions of DNA variants at a time

Regulatory Perspective

  • Encourage innovation while assuring NGS-based tests are accurate and useful
  • Adherence will offer flexible and adaptive regulatory oversight
  • Ensure Precision Care –  is only as good as the tests that guide diagnosis and treatment
  • Draft guidances  important step in the development of NGS-based tests
  • Encouraging public comments during the 90-day comment period.


Scope: Content and standards in providing oversight for whole exome human DNA sequencing (WES) or targeted human DNA sequencing NGS-based tests

Recommendations: Designing, developing, and validating NGS-based tests for germline diseases

Classification: Class II and potentially exempting them premarket notification;  longer-term goal to establish special controls for 510(k)

Key Elements:

Test Design Considerations .

  • Indications for Use Statement(s) of the Test
  • Specific User Needs for the Test
  • Specimen Type
  • Interrogated Regions of the Genome
  • Performance Needs
  •  Components and Methods

Test Performance Characteristics

  • Accuracy
  • Precision (Reproducibility and Repeatability) .
  • Limit of Detection (LoD)
  • Analytical Specificity

Test Run Quality Metrics

  • Coverage (Read Depth and Completeness)
  • Test Run Metrics and Performance Thresholds




  • Whether a genetic variant database could support NGS-based test validity in  premarket submission
  • Using curated databases using expert human interpretation for test developers to rely on clinical evidence from FDA-recognized public genome databases to support clinical claims

Recommendations: Recognition of Publicly Accessible Genetic Variant Databases

  • Database Procedures and Operations .
  • Data Quality
  • Curation, Variant Interpretation and Assertions
  • Professional Training and Conflicts of Interest

Process: Genetic Variant Database Recognition

  •  Submission for Recognition
  • FDA Review
  • Maintenance of FDA Recognition
  • Use of Third Parties
  •  Use of Data and Assertions from Recognized Genetic Variant Databases









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