期刊
GENETICS IN MEDICINE
卷 24, 期 10, 页码 2103-2111出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.gim.2022.06.010
关键词
Children; Cholesterol; Familial hypercholesterolemia; Genetic testing; Universal screening
资金
- Slovenian Research Agency [P3-0343, J3-2536, J3-4116, J3-6800, J3-6798]
- Juvenile Diabetes Research Foundation [2-SRA-2016-243-Q-R]
- Liona M. and Harry B. Helmsley Charitable Trust
- Sanofi-Aventis Deutschland GmbH
This study assessed the performance of two different screening programs for diagnosing familial hypercholesterolemia (FH) in children and found that the opt-out screening strategy was more advantageous than the opt-in strategy, as it could effectively detect FH patients and their family members.
Purpose: In Europe, >2 million individuals with familial hypercholesterolemia (FH) are currently undiagnosed. Effective screening strategies for FH diagnosis in childhood are urgently needed. We assessed the overall performances of 2 different FH screening programs in children: universal screening program with opt-out and opt-in type participation. Methods: We analyzed the data from 2 independent populations based on >166,000 individuals screened for hypercholesterolemia. Genetic analyses of FH-related genes were finalized in 945 children and 99 parents. Results: A total of 305 (32.3%) children were genotyped as positive or with a variant of uncertain significance in FH-related genes. For low-density lipoprotein cholesterol levels of 3.5 mmol L (135.3 mg/dL), the overall sensitivity and specificity for confirming FH were 90.5% and 55.3%, respectively. As part of child-parent screening, in >90% of the families, the parent with reported higher cholesterol levels was positive for the familial genetic variant. The cohort-based prevalence of FH from the opt-out universal screening program was estimated to be 1 in 431 individuals (95% CI = 1/391-1/472). Conclusion: Universal 3-step FH screening approach in children enabled detection of most children and their parents in every generation screened at reasonable costs. Opt-out screening strategy might be preferable over opt-in screening strategy. (C) 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
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