Understanding Health Disparities in Genetic Heart Disease and Sudden Cardiac Death

Abstract

This thesis addresses health disparities among individuals with a genetic heart disease. Health disparities are avoidable inequities in provision of healthcare and can manifest in various ways including disease prevalence, morbidity and access to healthcare. They can occur due to factors such as sex, ethnicity and socioeconomic status. This thesis aims to improve understanding of health disparities in the context of genetic heart diseases, in order to achieve evidence-based and equitable healthcare.

Chapter 2 investigates sex differences in clinical and genetic factors associated with adverse outcomes in hypertrophic cardiomyopathy (HCM), the most common genetic heart disease. Significant differences were observed in disease course and outcomes, depending on genotype and sex. In addition to differences due to sex, this thesis examines health disparities with respect to ethnicity in two studies. Chapter 3 focuses on a multiethnic HCM cohort, finding limited differences in clinical characteristics but crucial inequities in access to genetic testing and therapies between ethnicities. Chapter 4 shows the critical need for openly accessible, large and diverse genomic reference databases, through in-depth analysis of a single nucleotide variant in a Pacific population. Finally, Chapter 5 & 6 establishes a comprehensive clinical dataset through linking a genetic heart disease registry with state-wide routinely collected health datasets to identify healthcare utilisation patterns, uncovering disparities and opportunities for preventive care. This study highlights differences in healthcare utilisation by clinical diagnosis and disparities by socioeconomic status and sex.

Health disparities in genetic heart diseases are profound and this thesis highlights the lack of diversity in research participants, which limits knowledge and clinical management. By promoting inclusivity, equitable outcomes in diagnosing and managing genetic heart disease can be achieved.