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Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context
Minenhle Mayisela1, Dineo Mpanya1, Umar G Adamu1
1Department of Internal Medicine, Faculty of Health Sciences, School of Clinical Medicine, University of the Witwatersrand, Johannesburg, South Africa.
Insights
Dilated cardiomyopathy (DCM) disproportionately affects young Africans. Next-generation sequencing (NGS) aids DCM diagnosis, but African genomic research is limited, hindering precision cardiovascular medicine.
Area of Science:
- Cardiovascular Medicine
- Genomics
- Genetic Epidemiology
Background:
- Dilated cardiomyopathy (DCM) is a major cause of heart failure globally, with a significant impact on young African populations.
- Genetic factors are a common cause of DCM, yet African populations are underrepresented in genomic studies.
- This disparity limits the interpretation of genetic variants and the clinical use of advanced sequencing technologies in Africa.
Purpose of the Study:
- To review the clinical utility of next-generation sequencing (NGS) for diagnosing, stratifying risk, and managing DCM.
- To focus on the specific challenges and opportunities for DCM genomic research in Africa.
- To identify barriers and propose strategies for implementing NGS in African healthcare settings.
Main Methods:
- This narrative review synthesizes current literature on NGS applications in DCM.
- It specifically examines the role of genomic research in African populations.
- The review discusses implementation challenges and potential solutions.
Main Results:
- NGS has revolutionized the identification of genes associated with DCM.
- Limited genomic data from African populations hinders the effective use of NGS for DCM diagnosis and management in the region.
- Key barriers include lack of funding, infrastructure, and trained personnel.
Conclusions:
- Expanding genomic research in Africa is crucial for understanding DCM's genetic basis in diverse populations.
- Strengthening local research capacity and fostering equitable collaborations are essential.
- These efforts will advance precision cardiovascular medicine and improve patient outcomes for DCM in Africa.
Abstract:
Dilated cardiomyopathy (DCM) is a leading cause of heart failure worldwide and has a disproportionately high burden among young Africans. As a primary myocardial disorder, DCM frequently has a genetic aetiology. Although Africa harbours the greatest human genetic diversity, African populations remain underrepresented in genomic research, limiting variant interpretation and clinical applications of next-generation sequencing (NGS). Next Generation Sequencing has transformed the understanding of DCM by enabling comprehensive identification of disease-associated genes. This narrative review summarizes the clinical utility of NGS in the diagnosis, risk stratification, and management of DCM, with a particular focus on Africa. We also highlight some key barriers to implementation, clinical implications, and potential strategies to overcome them. Addressing these challenges through expanded African genomic research, strengthened local capacity, and equitable international collaborations is essential to advance precision cardiovascular medicine and improve outcomes for patients with DCM in Africa.
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