Comprehensive molecular diagnostics for inherited cardiac disease

Inherited cardiac conditions (ICCs) are the commonest cause of sudden death in the young and a major cause of death and disability across all age groups. ICCs are multi-gene diseases and include hypertrophic cardiomyopathy, dilated cardiomyopathy, familial hypercholesterolemia and inherited arrhythmia syndromes. Genetic testing is a key component in the assessment of ICCs as it directs patient care, but although recommended by NICE and international guidelines, in practice genetic tests are rarely and inequitably used due to a combination of incompleteness, high cost, slow turnaround and limited availability. To address these shortcomings the Human Genetics Commission proposed that ICCs should be used as a key model system to focus the development of an overall NHS strategy for next generation sequencing (NGS)-based diagnostics. In this project we will translate our deep research expertise in NGS re-sequencing of ICC genes into a clinical diagnostic for disseminated use. Our recent paper in the New England Journal of Medicine (Feb 2012) provided the first example of how NGS-based genetic tests can transform the diagnosis of ICCs. Building on this success, we will develop an end-to-end product that will provide a comprehensive, fast, affordable and highly annotated ICC diagnostic for patients, their families and for molecular pathology that will change clinical practice.