Expanding Pediatric Genetic Services in West Virginia

Ginsburg GS Phillips KA. Precision medicine: from science to value. Health Aff (Millwood). 2018;37(5):694-701. doi:10.1377/hlthaff.2017.1624.

Akbari H Sunderraj A Sanchez-Pinto N Berg AT George AL Jr Pardo AC. Genetic testing and hospital length of stay in neonates with epilepsy. Pediatr Neurol. 2022;133:30-33. doi:10.1016/j.pediatrneurol.2022.05.011.

Ellepola CD Knight LM Fischbach P , et al Genetic testing in pediatric cardiomyopathy. Pediatr Cardiol. 2018;39:491-500. doi:10.1007/s00246-017-1779-2.

Clinical Geneticist Society. The evolving role of the clinical geneticist. Clinical Genetics Society. Published July 29, 2015. Accessed January 23, 2025. https://www.clingensoc.org/media/11296/theevolvingroleoftheclinicalgeneticist-290715.pdf.

Palmieri G D’Ambrosio MF Correale M , et al The role of genetics in the management of heart failure patients. Int J Mol Sci. 2023;24(20):15221. doi:10.3390/ijms242015221.

Hudson Paul E . Defining the role of a genetic counselor within comprehensive care teams: perspectives of the provider team and patients [master’s thesis], Columbus, OH: The Ohio State University; 2018.

Stein Q Loman R Zuck T. Genetic counseling in pediatrics. Pediatr Rev. 2018;39(7):323-331. doi:10.1542/pir.2017-0194.

Kelly KM Dhumal T Scott VG , et al Genetic services in Appalachia conference series. Am J Med Genet A. 2025;197(5):e63990.

Riordan S Richardson J Zierhut H , et al Medicare beneficiary barriers to genetic counselor services: implications for patient policy, decision-making, and care. J Genet Couns. 2024;33:262-268. doi:10.1002/jgc4.1729.

Thomas DM Hackett JM Plestina S. Unlocking access to broad molecular profiling: benefits, barriers, and policy solutions. Public Health Genomics. 2022;25(3-4):70-79. doi:10.1159/000520000.

Centers for Disease Control Prevention (CDC). Cancer death rates–Appalachia, 1994-1998. MMWR Morb Mortal Wkly Rep. 2002;51(24):527-529.

Appalachian Regional Commission. About the Appalachian Region, 2025. Accessed November 18, 2025. https://www.arc.gov/about-the-appalachian-region/.

Appalachian Regional Commission. Health disparities in Appalachia. Accessed August 19, 2024. https://www.arc.gov/report/health-disparities-in-appalachia/.

National Society of Genetic Counselors. Genetic counselor workforce. Accessed September 10, 2024. https://www.nsgc.org/POLICY/Genetic-Counselor-Workforce.

Villegas C Haga SB. Access to genetic counselors in the southern United States. J Pers Med. 2019;9(3):33. doi:10.3390/jpm9030033.

Hesse-Biber SN. Mixed methods research: merging theory with practice. New York, NY: Guilford Press; 2010.

Crabtree BF. Doing qualitative research. Thousand Oaks, CA: Sage; 1999.

Kelly KM Dhumal T. Qualitative research in pharmacy settings. In: Aparasu RR Bentley JP Pate AN eds. Student Handbook for Pharmacy Practice Research: A Companion Book to Conduct Practice-based Research in Pharmacy. New York, NY: McGraw Hill LLC; 2022. Accessed January 23, 2025. http://accesspharmacy.mhmedical.com/content.aspx?aid=1192179720.

Falah N Mallow J Kelly KM . Telegenetics in rural Appalachia: implementation experiences and barriers to effective clinical care for populations experiencing health disparity[published online ahead of print March 13, 2022]. J Community Genet. doi:10.21203/rs.3.rs-1407787/v1.