Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.

ABSTRACT: Hereditary factors contribute to disease development and drug pharmacokinetics. The risk of hereditary disease development can be attenuated or eliminated by early screening or risk reducing interventions. The purpose of this study was to assess the clinical utility of germline medical exome sequencing in patients recruited from a family medicine clinic and compare the mutation frequency of hereditary predisposition genes to established general population frequencies. At the University of Kentucky, 205 family medicine patients underwent sequencing in a Clinical Laboratory Improvement Amendments of 1988-compliant laboratory to identify clinically actionable genomic findings. The study identified pathogenic or likely pathogenic genetic variants-classified according to the American College of

SUBMITTER: Hutchcraft ML 

PROVIDER: S-EPMC9410316 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature