Abstract
Personal risk for actionable Mendelian genetic disease has been identified in 2-16% of the general population.1-5 Early identification of individuals at risk allows for proactive screening and prevention to reduce morbidity. Current genetic testing guidelines designed to identify those most likely to have a genetic risk appear to miss a significant portion of at-risk individuals.6-8 The aim of this study was to determine the frequency of pathogenic variants found in a medically actionable genetic screening panel in a cohort of reproductive age women.
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