Moving Next-Gen Sequencing into the Clinic

The FDA has begun to develop their program to evaluate sequencing based diagnostics. At a recent meeting, the Association for Molecular Pathology (AMP) advised FDA officials on many important considerations for evaluating the analytical validity of next-generation sequencing:

The analytical validation requirements for NGS will vary based on the clinical application at issue, such as a mutation panel for a Mendelian disease versus transcriptome analysis.

Performance of, and coverage needs for, a given platform are likely to differ depending on:

  • the nucleic acid analyzed
  • the characteristics of the DNA regions and the type of variations interrogated
  • the relative allele proportions of particular variants
  • whether quantitative or qualitative results are desired

Flexibility and individualization is necessary in the development of validation protocols, guidelines, and controls on an application-by-application basis.

The test system, the analytical validity of the instrument and the performance of the bioinformatics software should be evaluated both independently and as a complete system.

(read the entire release… )