期刊
CURRENT ATHEROSCLEROSIS REPORTS
卷 -, 期 -, 页码 -出版社
CURRENT MEDICINE GROUP
DOI: 10.1007/s11883-023-01177-0
关键词
Familial hypercholesterolaemia; Whole genome sequencing; Newborn Genomes Programme; Healthy lifestyle; LDL-cholesterol burden; Homozygous FH
FH meets all the criteria and principles for inclusion in the Newborn Genomes Programme, and should therefore be included.
Purpose of ReviewThe UK National Health Service (NHS) has recently announced a Newborn Genomes Programme (NGP) to identify infants with treatable inherited disorders using whole genome sequencing (WGS). Here, we address, for familial hypercholesterolaemia (FH), the four principles that must be met for the inclusion of a disorder in the NGP.Recent FindingsPrinciple A: There is strong evidence that the genetic variants causing FH can be reliably detected. Principle B: A high proportion of individuals who carry an FH-causing variant are likely to develop early heart disease if left undiagnosed and not offered appropriate treatment. Principle C: Early intervention has been shown to lead to substantially improved outcomes in children with FH. Principle D: The recommended interventions are equitably accessible for all.SummaryFH meets all the Wilson and Jungner criteria for inclusion in a screening programme, and it also meets all four principles and therefore should be included in the Newborn Genomes Programme.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据