Monday, October 26, 2020

Very Brief Blog; JAMA Posts Article Series on Sequencing, WGS, Clinical Implementation

JAMA posts a UCSF new article on the clinical value of sequencing, including whole genome sequencing, and the need for implementation (translational) research.  JAMA includes callbacks to two recent articles.

  • The new entry point is Phillips, Douglas, Marshall in JAMA online October 26, "Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation."
    • Here.
      • Note the online supplemental table here.
      • Webpage includes podcast interview with Howard Bauchner, Editor-in-Chief, and Prof. Phillips of UCSF (18 min).  Here.
  • JAMA provides Wu et al., JAMA Pediatrics, June 2020, as a callback.
    • "Ending the Diagnostic Odyssey: Is WGS the Answer?"
    • Here.
      • This article refers in part to the Diagnosic Odyssey Act, proposed as HR 4144.
  • JAMA also links back to Feero, 2018, "Precision Medicine, Genome Sequencing, Population Health."
    • Here.
    • Feero in turns cites a National Academies 2018 conference report on implementing genomics, here.