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Use of Genetic Variant Databases as Sources of Valid Scientific Evidence for Clinical Validity of Genetic Tests

This guidance describes FDA's considerations for determining whether a genetic variant database can be a source of valid scientific evidence to support clinical validity of genetic and genomic-based tests in premarket submissions, regardless of technology type. It outlines the process for database administrators to voluntarily apply for FDA recognition and how FDA would assess such applications. The guidance only covers databases making assertions about human genetic variants, excluding databases directing therapies or used for microbial genome identification.

  1. Develop comprehensive SOPs for database operations, data quality, variant evaluation
  2. Implement security and privacy protection measures compliant with regulations
  3. Establish professional training program for variant evaluators
  4. Create conflict of interest policies and disclosure processes
  5. Document validation protocols for variant evaluation
  6. Set up data backup and preservation plans
  7. Implement version control for SOPs and assertions
  8. Make policies and procedures publicly accessible
  9. Establish process for receiving and handling user feedback
  10. Create plan for regular review and updates of procedures
  11. Prepare documentation package for FDA recognition submission
  12. Set up process for maintaining FDA recognition through annual reviews

Key Considerations

Software

  • Database must have processes for assessing stability and architecture
  • Must maintain proper data linkages
  • Regular database backups required
  • Plan needed for data preservation if operations cease
  • Must use commonly accepted data formats and nomenclature

Cybersecurity

  • Must comply with all applicable federal laws regarding data security
  • Must implement adequate security measures to protect personally identifiable information
  • Staff training on security required

Labelling

  • Assertions must be truthful and not misleading
  • Must use clear and understandable language
  • Should not include clinical treatment or diagnosis recommendations
  • Should use descriptive language about variants (pathogenic, benign, etc.)

Safety

  • Must protect patient privacy and comply with applicable privacy laws (HIPAA, GINA, etc.)
  • Must have processes for protecting personal health information
  • Must comply with human subject protection requirements

Other considerations

  • CLIA: Clinical Laboratory Improvement Amendments of 1988

Original guidance

  • Use of Genetic Variant Databases as Sources of Valid Scientific Evidence for Clinical Validity of Genetic Tests
  • HTML / PDF
  • Issue date: 2018-04-13
  • Last changed date: 2019-04-09
  • Status: FINAL
  • Official FDA topics: Medical Devices, Laboratory Tests, Premarket, IVDs (In Vitro Diagnostic Devices), Molecular and Clinical Genetics
  • ReguVirta summary file ID: 9a24eb9eb6de753534f8fc0b75308c23
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