CC BY 4.0 · Glob Med Genet 2024; 11(01): 036-047
DOI: 10.1055/s-0044-1779469
Review Article

Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives

Helen Huang
1   Department of Medicine, School of Medicine, Royal College of Surgeons in Ireland, University of Medicine and Health Science, Dublin, Ireland
,
Jay Verma
2   Department of Medicine, Maulana Azad Medical College, University of Delhi, Delhi, India
,
Valerie Mok
3   Department of Medicine Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada
,
Hareesha R. Bharadwaj
4   Division of Medical Education, Faculty of Biology Medicine and Health, The University of Manchester, Manchester, United Kingdom
,
Maen M. Alrawashdeh
1   Department of Medicine, School of Medicine, Royal College of Surgeons in Ireland, University of Medicine and Health Science, Dublin, Ireland
,
Adarsh Aratikatla
1   Department of Medicine, School of Medicine, Royal College of Surgeons in Ireland, University of Medicine and Health Science, Dublin, Ireland
,
Sourav Sudan
5   Department of Medicine, Government Medical College, Jammu, Jammu and Kashmir, India
,
Suprateeka Talukder
6   Department of Medicine, Norfolk and Norwich University Hospital, Colney Lane, Norwich, United Kingdom
,
Minatoullah Habaka
1   Department of Medicine, School of Medicine, Royal College of Surgeons in Ireland, University of Medicine and Health Science, Dublin, Ireland
,
Gary Tse*
7   Tianjin Key Laboratory of Ionic-Molecular Function of Cardiovascular Disease, Department of Cardiology, Tianjin Institute of Cardiology, Second Hospital of Tianjin Medical University, Tianjin, People's Republic of China
8   Department of Medicine, Kent and Medway Medical School, Canterbury, Kent, United Kingdom
9   Department of Medicine, School of Nursing and Health Studies, Hong Kong Metropolitan University, Hong Kong, People's Republic of China
,
Mainak Bardhan*
10   Department of Medical Oncology, Miami Cancer Institute, Baptist Health South Florida, Miami, Florida, United States
› Author Affiliations
Funding None.


Abstract

Background Hereditary cardiomyopathies are commonly occurring myocardial conditions affecting heart structure and function with a genetic or familial association, but the etiology is often unknown. Cardiomyopathies are linked to significant mortality, requiring robust risk stratification with genetic testing and early diagnosis.

Hypothesis We hypothesized that health care disparities exist in genetic testing for hereditary cardiomyopathies within clinical practice and research studies.

Methods In a narrative fashion, we conducted a literature search with online databases such as PubMed/MEDLINE, Google Scholar, EMBASE, and Science Direct on papers related to hereditary cardiomyopathies. A comprehensive analysis of findings from articles in English on disparities in diagnostics and treatment was grouped into four categories.

Results Racial and ethnic disparities in research study enrollment and health care delivery favor White populations and higher socioeconomic status, resulting in differences in the development and implementation of effective genetic screening. Such disparities have shown to be detrimental, as minorities often suffer from disease progression to heart failure and sudden cardiac death. Barriers related to clinical genetic testing included insurance-related issues and health illiteracy. The underrepresentation of minority populations extends to research methodologies, as testing in ethnic minorities resulted in a significantly lower detection rate and diagnostic yield, as well as a higher likelihood of misclassification of variants.

Conclusions Prioritizing minority-based participatory research programs and screening protocols can address systemic disparities. Diversifying research studies can improve risk stratification strategies and impact clinical practice.

Data Availability

No data available.


Ethical Statement

Not applicable.


Authors' Contribution

Conceptualization of topic and coordination of reading, writing, and editing: H.H., M.B.; reading, writing, and editing of the original draft: all authors; critical revision of the manuscript: H.H., G.T., M.B.; figures and tables: H.H., J.V.; final approval of manuscript: G.T., M.B.


* These contributors share senior authorship.




Publication History

Article published online:
01 February 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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