Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?

被引:11
|
作者
Henneman, Lidewij [1 ]
McBride, Colleen M. [2 ]
Cornel, Martina C. [1 ]
Duquette, Debra [3 ]
Qureshi, Nadeem [4 ]
机构
[1] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Sect Community Genet, EMGO Inst Hlth & Care Res, POB 7057, NL-1007 MB Amsterdam, Netherlands
[2] Emory Univ, Rollins Sch Publ Hlth, Dept Behav Sci & Hlth Educ, Atlanta, GA 30322 USA
[3] Michigan Dept Hlth & Human Serv, Genom & Genet Disorders Sect, Lansing, MI 48909 USA
[4] Univ Nottingham, Div Primary Care, Sch Med, Nottingham NG7 2RD, England
来源
HEALTHCARE | 2015年 / 3卷 / 04期
关键词
population screening; familial hypercholesterolemia; prevention; genetic testing; pediatrics; public health genomics;
D O I
10.3390/healthcare3041018
中图分类号
R19 [保健组织与事业(卫生事业管理)];
学科分类号
摘要
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.
引用
收藏
页码:1018 / 1030
页数:13
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