Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?
Open Access
- 26 October 2015
- journal article
- editorial
- Published by MDPI AG in Healthcare
- Vol. 3 (4), 1018-1030
- https://doi.org/10.3390/healthcare3041018
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.This publication has 50 references indexed in Scilit:
- Individual-, Family-, Community-, and Policy-Level Impact of a School-Based Cardiovascular Risk Detection Screening Program for Children in Underserved, Rural Areas: The CARDIAC ProjectJournal of Obesity, 2013
- Technical report: ethical and policy issues in genetic testing and screening of childrenGenetics in Medicine, 2013
- Can Multiple Lifestyle Behaviours Be Improved in People with Familial Hypercholesterolemia? Results of a Parallel Randomised Controlled TrialPLOS ONE, 2012
- Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectivesBMC Family Practice, 2011
- Genetic testing and common disorders in a public health frameworkEuropean Journal of Human Genetics, 2011
- Defining the challenges of FH Screening for familial hypercholesterolemiaJournal of Clinical Lipidology, 2010
- Genetic testing in asymptomatic minorsEuropean Journal of Human Genetics, 2009
- Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry studyEuropean Heart Journal, 2008
- Health‐related quality of life of children with a positive carrier status for inherited cardiovascular diseasesAmerican Journal of Medical Genetics Part A, 2008
- Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysisBMJ, 2007