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.

PubMed

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.

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