Familial Hypercholesterolaemia as a Model for Evaluating the Ethics of Population Testing and Screening for Genetic Disease

Abstract

Familial hypercholesterolaemia (FH) is a common genetic form of high cholesterol that has serious impacts on cardiovascular health when untreated. Despite the potential benefits of early identification, FH is underdiagnosed in most countries. Widespread population screening utilising universal and cascade models has the potential to increase FH diagnoses and improve disease outcomes. Investigation of various methodologies and ethical considerations for implementing these models in practice has highlighted the promise and existing challenges in addressing this public health issue. Defining the ethics framework for FH screening will inform methodology and delineate how individual rights will be respected. Use of a social justice lens in the gathering of evidence and the creation of the screening process will better ensure that FH screening reduces rather than further entrenches existing health inequities. Further evidence is needed to demonstrate the benefit, utility and engagement across diverse communities. Key Concepts Familial hypercholesterolaemia (FH) is a common genetic cause of high cholesterol that remains widely underdiagnosed despite its serious implications for cardiovascular health when untreated. FH can be diagnosed using lipid levels, clinical criteria and/or genetic testing, but the best way to regularly use these tools has been debated. Various population screening models have been considered and investigated for improving the identification of FH, including universal and cascade screening. Strategies to implement screening models in practice are being explored and range from patient databases and diagnostic algorithms to educational efforts for providers and the general public. Both logistical and ethical barriers to implementing these models have been identified and must be addressed in order to create robust screening programmes. Defining the ethics framework for FH screening will inform the methodology and delineate how individual rights will be respected. Use of a social justice lens in the gathering of evidence and the creation of the screening process will better ensure that FH screening reduces rather than further entrenches existing health inequities.