TY - JOUR
T1 - Screening for familial hypercholesterolemia in children
T2 - What can we learn from adult screening programs?
AU - Henneman, Lidewij
AU - McBride, Colleen M.
AU - Cornel, Martina C.
AU - Duquette, Debra
AU - Qureshi, Nadeem
N1 - Publisher Copyright: © 2015 by the authors; licensee MDPI, Basel, Switzerland.
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - Familial hypercholesterolemia
KW - Genetic testing
KW - Pediatrics
KW - Population screening
KW - Prevention
KW - Public health genomics
UR - http://www.scopus.com/inward/record.url?scp=84978917863&partnerID=8YFLogxK
U2 - https://doi.org/10.3390/healthcare3041018
DO - https://doi.org/10.3390/healthcare3041018
M3 - Comment/Letter to the editor
C2 - 27417810
SN - 2227-9032
VL - 3
SP - 1018
EP - 1030
JO - Healthcare
JF - Healthcare
IS - 4
ER -