Genomics in practice - a review of inherited cardiac conditions

Abstract

Interest in inherited cardiovascular conditions (ICCs) is fueled by resources devoted to its diagnosis, management, and research. The rapid advancement of DNA genomic sequencing deepens our understanding of ICCs. The ICC genomic landscape empowers the development of diagnostic guidelines and the discovery of potential therapeutic targets and promises novel therapeutics, especially in precision cardiology. Therefore, it is essential for healthcare institutes and systems to develop contextual frameworks based on current guidelines to provide holistic care for patients with ICCs. The clinical frameworks and considerations described in this review provide an overview of the operations of an ICC clinic, including wet and dry lab conditions, work performed by a healthcare professional, and the variety of cases, ranging from cardiomyopathies to arrythmias to aortopathies. Insights from our experience in an ICC clinic in Singapore add to the discussion of the challenges and benefits for patients and clinicians who serve them.

Keywords

Clinical genomics / genetic testing / inherited cardiac condition / cardiomyopathy / arrhythmias / sudden cardiac death

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