Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal

Abstract excerpt

Genome sequencing is increasingly used in research and integrated into clinical care. In the research domain, large-scale analyses, including whole genome sequencing with variant interpretation and curation, virtually guarantee identification of variants that are pathogenic or likely pathogenic and actionable. Multiple guidelines recommend that findings associated with actionable conditions be offered to research...