title: Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
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.
authors.affiliation: Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, P.O. Box 7057, Amsterdam 1007 MB, The Netherlands. l.henneman@vumc.nl.
authors.forename: Lidewij
authors.initials: L
authors.lastname: Henneman
authors.affiliation: Department of Behavioral Sciences and Health Education, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA. cmmcbri@emory.edu.
authors.forename: Colleen M
authors.initials: CM
authors.lastname: McBride
authors.affiliation: Department of Clinical Genetics, Section of Community Genetics, EMGO Institute for Health and Care Research, VU University Medical Center, P.O. Box 7057, Amsterdam 1007 MB, The Netherlands. mc.cornel@vumc.nl.
authors.forename: Martina C
authors.initials: MC
authors.lastname: Cornel
authors.affiliation: Genomics and Genetic Disorders Section, Michigan Department of Health and Human Services, Lansing, MI 48909, USA. duquetted@michigan.gov.
authors.forename: Debra
authors.initials: D
authors.lastname: Duquette
authors.affiliation: Division of Primary Care, School of Medicine, University of Nottingham, University Park, Nottingham NG7 2RD, UK. Nadeem.Qureshi@nottingham.ac.uk.
authors.forename: Nadeem
authors.initials: N
authors.lastname: Qureshi
keywords: familial hypercholesterolemia; genetic testing; pediatrics; population screening; prevention; public health genomics