Utility of Whole-Genome Sequencing in Primary Care Uncertain

Adding whole-genome sequencing (WGS) to standardized family history assessment of healthy patients in the primary care setting uncovers new molecular findings, although the findings prompt additional clinical investigation and their clinical utility remains uncertain, according to a study published June 26 in the Annals of Internal Medicine. Additionally, the study found that the majority of primary care providers (PCPs) are able to manage WGS results appropriately without causing patients undue distress, both of which had been previous concerns about employing WGS technology in nonspecialist settings and among healthy patients. The researchers retrospectively assessed affected AD severity based on As part of the MedSeq Project at Brigham and Women’s Hospital, the researchers conducted a pilot in which 100 generally healthy patients (aged 40 to 65 years and free of cardiovascular disease or diabetes mellitus) were randomly assigned to receive a family history report alone (FH) or in combination with an interpreted WGS report (FH + WGS). The report included a summary of variant interpretation (monogenic disease risk [MDR] associated with Mendelian disorders, carrier variants, pharmacogenomic associations, and polygenic risk estimates for cardiometabolic traits), disease information, and familial risk, but did not include recommendations for clinical management. Prior to patient enrollment nine […]