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

Lidewij Henneman1, Colleen M McBride2, Martina C Cornel3

  • 1Department 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.

Healthcare (Basel, Switzerland)
|July 16, 2016
PubMed

Insights

Familial hypercholesterolemia (FH) screening identifies high cholesterol risks early. Integrating genetic testing into child screening programs offers future benefits but requires better public health genomics integration.

Area of Science:

  • Genomics
  • Cardiovascular Disease
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is a common, autosomal dominant genetic disorder leading to atherosclerosis and increased risk of early heart disease.
  • Early identification of elevated cholesterol levels is crucial for timely interventions, significantly reducing morbidity and mortality associated with FH.
  • Current screening approaches in countries like the UK and Netherlands face challenges in complete case identification.

Purpose of the Study:

  • To discuss the potential benefits of universal cholesterol screening in children for early FH detection.
  • To explore the integration of genetic testing into future FH screening programs, driven by advancing genomic technologies.
  • To address the opportunities and challenges associated with incorporating genetic testing into public health screening initiatives.

Main Methods:

  • Review of current FH screening strategies and their limitations.
  • Discussion of the implications of emerging genome technologies on screening protocols.
  • Analysis of the potential benefits and challenges of including genetic testing in pediatric cholesterol screening.

Main Results:

  • Incomplete identification of FH cases remains a significant challenge with current screening methods.
  • Advancements in genomic technology necessitate a re-evaluation of screening program content.
  • Integrating genetic testing into childhood screening presents both opportunities for earlier and more precise diagnosis and challenges in implementation.

Conclusions:

  • Universal cholesterol screening in children holds potential for early intervention in Familial hypercholesterolemia.
  • The increasing capability of genomic technologies suggests a future where genetic testing becomes integral to FH screening programs.
  • Successful implementation hinges on a robust public health genomics model that fosters collaboration among primary care, clinical genetics, and public health professionals.

Keywords:
familial hypercholesterolemiagenetic testingpediatricspopulation screeningpreventionpublic health genomics

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