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November 17, 2020

Bioinformatics, Sequencing Accuracy, and the Credibility of Clinical Genomics

Author Affiliations
  • 1Maine Dartmouth Family Practice Residency, Fairfield
  • 2Department of Community and Family Medicine, Dartmouth Geisel School of Medicine, Hanover, New Hampshire
  • 3Associate Editor, JAMA
JAMA. 2020;324(19):1945-1947. doi:10.1001/jama.2020.19939

The adoption of clinical exome and whole-genome sequencing based on next-generation sequencing technologies has increased rapidly over the last decade; this has been accelerated by increasing coverage of these services by private and public insurers.1,2 Examples of use include tumor and germline sequencing in patients with cancer, rapid turn-around sequencing of the genomes of critically ill neonates to diagnose mendelian conditions, and noninvasive prenatal testing for reproductive decision-making. The accuracy of sequencing results is of paramount importance to patients, clinicians, and those paying for testing services; inaccuracy can affect not only the tested individual, but their extended biological family.3 Understanding what accuracy means in the context of genome sequencing is a challenge. In the genomics community accuracy is often described using 2 terms: analytic validity, eg, does the sequencing process reliably detect variations that are present in an individual’s genome; and clinical validity, eg, are the variants detected reliably related to health outcomes.

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