Journal article
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients
Journal of personalized medicine, Vol.12(8), 1297
08/08/2022
DOI: 10.3390/jpm12081297
PMCID: PMC9410316
PMID: 36013246
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 Medical Genetics and Genomics variant classification guidelines-and actionable pharmacogenomic variants, as defined by the Clinical Pharmacogenetics Implementation Consortium. Test results for patients with pharmacogenomic variants and pathogenic or likely pathogenic variants were returned to the participant and enrolling physician. Hereditary disease predisposition gene mutations in APOB, BRCA2, MUTYH, CACNAIS, DSC2, KCNQ1, LDLR, SCN5A, or SDHB were identified in 6.3% (13/205) of the patients. Nine of 13 (69.2%) underwent subsequent clinical interventions. Pharmacogenomic variants were identified in 76.1% (156/205) of patients and included 4.9% (10/205) who were prescribed a medication that had pharmacogenomic implications. Family physicians changed medications for 1.5% (3/205) of patients to prevent toxicity. In this pilot study, we found that with systemic support, germline genetic screening initiatives were feasible and clinically beneficial in a primary care setting.
Details
- Title: Subtitle
- Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients
- Creators
- Megan Leigh Hutchcraft - Markey Cancer CenterShulin Zhang - Albert B. Chandler HospitalNan Lin - University of KentuckyGinny Lee Gottschalk - Albert B. Chandler HospitalJames W. Keck - Albert B. Chandler HospitalElizabeth A. Belcher - Markey Cancer CenterCatherine Sears - Albert B. Chandler HospitalChi Wang - University of KentuckyKun Liu - University of KentuckyLauren E. Dietz - University of KentuckyJustine C. Pickarski - Markey Cancer CenterSainan Wei - Albert B. Chandler HospitalRoberto Cardarelli - Albert B. Chandler HospitalRobert S. DiPaola - University of KentuckyJill M. Kolesar - University of Kentucky
- Resource Type
- Journal article
- Publication Details
- Journal of personalized medicine, Vol.12(8), 1297
- Publisher
- Mdpi
- DOI
- 10.3390/jpm12081297
- PMID
- 36013246
- PMCID
- PMC9410316
- ISSN
- 2075-4426
- eISSN
- 2075-4426
- Number of pages
- 17
- Grant note
- P30CA177558 / National Cancer Institute at the National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Cancer Institute (NCI) College of Medicine Dean's Office
- Language
- English
- Date published
- 08/08/2022
- Academic Unit
- Pharmacy; Pharmaceutical Sciences and Experimental Therapeutics
- Record Identifier
- 9984696539602771
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