Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
December 7, 2023 | Screening for FH, Publication, Paediatric Lipid Working Group
The UK National Health Service announced in 2023 a Newborn Genomes Programme (NGP) to identify infants with treatable inherited disorders using whole genome sequencing (WGS). Here, we address, for FH, the four principles that must be met for the inclusion of a disorder in the NGP. We conclude that FH meets all the Wilson and Jungner criteria for inclusion in a screening programme, and it also meets all four NGP principles and therefore should be included in the Programme.
- Curr Atheroscler Rep. 2023 Dec;25(12):1083-1091.
- PMID: 38060059
- doi: 10.1007/s11883-023-01177-0
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