Evolving Cardiovascular Genetic Counseling Needs in the Era of Precision Medicine

Overview

Journal Front Cardiovasc Med

Specialty Cardiology & Vascular Diseases

Date 2023 Jul 10

PMID 37424912

Authors

Ana Morales

Jessica Goehringer

Despina Sanoudou

Affiliations

Soon will be listed here.

Abstract

In the era of Precision Medicine the approach to disease diagnosis, treatment, and prevention is being transformed across medical specialties, including Cardiology, and increasingly involves genomics approaches. The American Heart Association endorses genetic counseling as an essential component in the successful delivery of cardiovascular genetics care. However, with the dramatic increase in the number of available cardiogenetic tests, the demand, and the test result complexity, there is a need not only for a greater number of genetic counselors but more importantly, for highly specialized cardiovascular genetic counselors. Consequently, there is a pressing need for advanced cardiovascular genetic counseling training, along with innovative online services, telemedicine, and patient-facing digital tools, as the most effective way forward. The speed of implementation of these reforms will be of essence in the translation of scientific advancements into measurable benefits for patients with heritable cardiovascular disease and their families.

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References

Campion M, Goldgar C, Hopkin R, Prows C, Dasgupta S . Genomic education for the next generation of health-care providers. Genet Med. 2019; 21(11):2422-2430. DOI: 10.1038/s41436-019-0548-4. View

Morales A, Cowan J, Dagua J, Hershberger R . Family history: an essential tool for cardiovascular genetic medicine. Congest Heart Fail. 2008; 14(1):37-45. DOI: 10.1111/j.1751-7133.2008.08201.x. View

Gray B, Semsarian C . Utility of genetic testing in athletes. Clin Cardiol. 2020; 43(8):915-920. PMC: 7403674. DOI: 10.1002/clc.23289. View

Schwartz P, Stramba-Badiale M, Crotti L, Pedrazzini M, Besana A, Bosi G . Prevalence of the congenital long-QT syndrome. Circulation. 2009; 120(18):1761-7. PMC: 2784143. DOI: 10.1161/CIRCULATIONAHA.109.863209. View

Hoskovec J, Bennett R, Carey M, DaVanzo J, Dougherty M, Hahn S . Projecting the Supply and Demand for Certified Genetic Counselors: a Workforce Study. J Genet Couns. 2017; 27(1):16-20. DOI: 10.1007/s10897-017-0158-8. View

Hubbel A, Hogan E, Matthews A, Goldenberg A . North American genetic counselors' approach to collecting and using ancestry in clinical practice. J Genet Couns. 2022; 32(2):462-474. DOI: 10.1002/jgc4.1655. View

Whiwon L, Salma S, Daniel A, Stephanie L, Marc C, Cherith S . Patient-facing digital tools for delivering genetic services: a systematic review. J Med Genet. 2022; 60(1):1-10. DOI: 10.1136/jmg-2022-108653. View

Hu P, Dharmayat K, Stevens C, Sharabiani M, Jones R, Watts G . Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis. Circulation. 2020; 141(22):1742-1759. DOI: 10.1161/CIRCULATIONAHA.119.044795. View

Chora J, Iacocca M, Tichy L, Wand H, Kurtz C, Zimmermann H . The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genet Med. 2021; 24(2):293-306. DOI: 10.1016/j.gim.2021.09.012. View

10.

Bagnall R, Singer E, Tfelt-Hansen J . Sudden Cardiac Death in the Young. Heart Lung Circ. 2020; 29(4):498-504. DOI: 10.1016/j.hlc.2019.11.007. View

11.

Giudicessi J, Lieve K, Rohatgi R, Koca F, Tester D, van der Werf C . Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. Circ Genom Precis Med. 2019; 12(5):e002510. DOI: 10.1161/CIRCGEN.119.002510. View

12.

Adalsteinsdottir B, Teekakirikul P, Maron B, Burke M, Gudbjartsson D, Holm H . Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation. Circulation. 2014; 130(14):1158-67. DOI: 10.1161/CIRCULATIONAHA.114.011207. View

13.

McAllister M, Wood A, Dunn G, Shiloh S, Todd C . The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services. Clin Genet. 2011; 79(5):413-24. DOI: 10.1111/j.1399-0004.2011.01636.x. View

14.

Lopez Santibanez Jacome L, Dellefave-Castillo L, Wicklund C, Scherr C, Duquette D, Webster G . Practitioners' Confidence and Desires for Education in Cardiovascular and Sudden Cardiac Death Genetics. J Am Heart Assoc. 2022; 11(7):e023763. PMC: 9075463. DOI: 10.1161/JAHA.121.023763. View

15.

Musunuru K, Hershberger R, Day S, Klinedinst N, Landstrom A, Parikh V . Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association. Circ Genom Precis Med. 2020; 13(4):e000067. DOI: 10.1161/HCG.0000000000000067. View

16.

Gifford C, Ranade S, Samarakoon R, Salunga H, de Soysa T, Huang Y . Oligogenic inheritance of a human heart disease involving a genetic modifier. Science. 2019; 364(6443):865-870. PMC: 6557373. DOI: 10.1126/science.aat5056. View

17.

Ackerman M . Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue. Heart Rhythm. 2015; 12(11):2325-31. DOI: 10.1016/j.hrthm.2015.07.002. View

18.

Caskey T . Precision Medicine: Functional Advancements. Annu Rev Med. 2017; 69:1-18. DOI: 10.1146/annurev-med-041316-090905. View

19.

Nightingale B, Hovick S, Brock P, Callahan E, Jordan E, Roggenbuck J . Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results. J Genet Couns. 2019; 28(6):1087-1097. DOI: 10.1002/jgc4.1159. View

20.

Hooker G . Building an infrastructure to enable delivery of genomic medicine. Am J Med Genet C Semin Med Genet. 2021; 187(1):95-99. PMC: 7985861. DOI: 10.1002/ajmg.c.31881. View