Abstract
Familial hypercholesterolemia (FH), an autosomal dominant atherosclerotic disease, is a common monogenic subtype of cardiovascular disease. Patients with FH suffer an increased risk of early onset heart disease. Early identification of abnormally elevated cholesterol signpost clinicians to interventions that will significantly decrease risk of related morbidity and mortality. Cascade genetic testing can subsequently identify at-risk relatives. Accordingly, a number of screening approaches have been implemented for FH in countries including the UK and the Netherlands. However, incomplete identification of cases remains a challenge. Moreover, the potential for early intervention is now raising questions about the value of implementing universal cholesterol screening approaches that focus on children. In this report, we briefly discuss the potential benefit of such screening. Additionally, we submit that ever increasing genome technological capability will force a discussion of including genetic tests in these screening programs. We discuss the opportunities and challenges presented by such an approach. We close with recommendations that the success of such screening endeavors will rely on a better integrated practice model in public health genomics that bridges stakeholders including practitioners in primary care, clinical genetics and public health.
Highlights
Burgeoning rates of chronic disease and concordant escalation in health costs are of international concern
Most individuals affected by familial hypercholesterolemia (FH) have a single mutation in either the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes [5]
A challenge for creating a population screening program for monogenic conditions, such as FH, is the need to engage stakeholders from different health service systems—clinical genetics, primary care and public health—that will be essential for coordinating follow-up and tracking high risk children and their families
Summary
Burgeoning rates of chronic disease and concordant escalation in health costs are of international concern. Most recently, ongoing advances in genome sequencing promise to enable identification of subgroups with monogenic hereditary syndromes [2] who may be an important target audience for this endeavor, especially for identifying healthy relatives at risk of preventable morbidity [3] These family members could benefit from “precision medicine” approaches wherein treatments are customized and differ from that provided to groups with multifactorial common diseases [4]. Screening that involves evaluating all individuals in a particular segment of a population (e.g., specific age groups) for parameters associated with FH (e.g., abnormally high cholesterol levels) [6,13,14] In both cases, these approaches would lead to more or less systematic and centrally-coordinated.
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