[HTML][HTML] Clinical outcomes of a genomic screening program for actionable genetic conditions

AH Buchanan, HL Kirchner, MLB Schwartz, MA Kelly… - Genetics in …, 2020 - Elsevier
Purpose Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch
syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that
reduce morbidity and mortality, prompting proposals to screen unselected populations for
these conditions. We examined the impact of genomic screening on risk management and
early detection in an unselected population. Methods Observational study of electronic
health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a …
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