# Next generation sequencing in dilated cardiomyopathy: utility and challenges in the African context

## TL;DR

This paper reviews the use of next-generation sequencing for diagnosing and managing dilated cardiomyopathy in Africa, highlighting challenges and the need for more genomic research.

## Contribution

The paper emphasizes the unique challenges and opportunities for NGS in DCM diagnosis within the African context.

## Key findings

- NGS enables comprehensive identification of DCM-associated genes but faces challenges in variant interpretation in African populations.
- African underrepresentation in genomic research limits the clinical utility of NGS for DCM in the region.
- Strengthening local genomic capacity and international collaboration is critical for improving DCM outcomes 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.