Clinical outcomes of a genomic screening program for actionable genetic conditions.

摘要: Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch familial hypercholesterolemia—have tier 1 evidence for interventions that reduce morbidity mortality, prompting proposals to screen unselected populations these conditions. We examined the impact of genomic screening on risk management early detection in an population. Observational study electronic health records (EHR) among individuals whom a pathogenic/likely pathogenic variant gene was discovered through Geisinger’s MyCode project. EHR all eligible participants evaluated prior diagnosis and, without such diagnosis, relevant personal/family history, postdisclosure clinical diagnoses, management. Eighty-seven percent (305/351) did not have their result. Of these, 65% had personal and/or family history disease. 255 management, 70% (n = 179) recommended procedure after results disclosure. Thirteen (41/305) received Genomic programs can identify previously unrecognized at increased heart disease facilitate detection.