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Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?

Steve E Humphries1, Uma Ramaswami2, Neil Hopper3

  • 1Centre for Cardiovascular Genetics, Rayne Building, 5 University Street, University College London, London, United Kingdom, WC1E 6JJ.

Current Atherosclerosis Reports
|December 7, 2023
PubMed

Insights

Familial hypercholesterolaemia (FH) should be included in the UK Newborn Genomes Programme (NGP). Early detection via whole genome sequencing (WGS) enables timely treatment, improving health outcomes for infants with this inherited condition.

Area of Science:

  • Genomics and Genetic Screening
  • Public Health Initiatives
  • Cardiovascular Disease Prevention

Background:

  • The UK National Health Service (NHS) is launching a Newborn Genomes Programme (NGP).
  • This program aims to identify infants with treatable inherited disorders using whole genome sequencing (WGS).
  • Familial hypercholesterolaemia (FH) is a key focus for potential inclusion.

Purpose of the Study:

  • To evaluate Familial Hypercholesterolaemia (FH) against the four key principles for inclusion in the Newborn Genomes Programme (NGP).
  • To determine if FH meets the criteria for genetic screening in newborns.

Main Methods:

  • Assessment of FH against established criteria for newborn screening programs (Wilson and Jungner criteria).
  • Evaluation of FH based on four specific principles: reliable genetic detection, risk of early heart disease, benefit of early intervention, and equitable access to treatment.

Main Results:

  • Principle A: Genetic variants causing FH are reliably detectable.
  • Principle B: Individuals with FH variants face a high risk of early heart disease without diagnosis and treatment.
  • Principle C: Early intervention significantly improves outcomes for children with FH.
  • Principle D: Recommended interventions for FH are equitably accessible.

Conclusions:

  • Familial Hypercholesterolaemia (FH) meets all four principles required for inclusion in the Newborn Genomes Programme (NGP).
  • FH also satisfies the Wilson and Jungner criteria for screening programs.
  • FH is strongly recommended for inclusion in the Newborn Genomes Programme for early detection and intervention.
Abstract

Keywords:
Familial hypercholesterolaemiaHealthy lifestyleHomozygous FHLDL-cholesterol burdenNewborn Genomes ProgrammeWhole genome sequencing

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