Related Experiment Video

Updated: Feb 8, 2026

Measurement of Fronto-limbic Activity Using an Emotional Oddball Task in Children with Familial High Risk for Schizophrenia
13:08

Measurement of Fronto-limbic Activity Using an Emotional Oddball Task in Children with Familial High Risk for Schizophrenia

Published on: December 2, 2015

9.5K

Universal screening at age 1-2 years as an adjunct to cascade testing for familial hypercholesterolaemia in the UK: A

Ailsa J McKay1, Helen Hogan2, Steve E Humphries3

  • 1London School of Hygiene and Tropical Medicine, London, UK; Department of Primary Care and Public Health, Imperial College London, London, UK.

Atherosclerosis
|June 26, 2018
PubMed

Insights

Universal cholesterol screening followed by genetic testing and reverse cascade testing is a cost-effective strategy for diagnosing familial hypercholesterolaemia (FH) in the UK. This approach improves upon current methods for identifying individuals with FH.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Public Health

Background:

  • Familial hypercholesterolaemia (FH) remains significantly underdiagnosed globally.
  • Cascade testing (CT) is effective but relies on identifying index cases.
  • Recent studies show universal screening (US) in early childhood is feasible.

Purpose of the Study:

  • To evaluate the cost-effectiveness of universal cholesterol screening (US) as an adjunct to cascade testing (CT) for familial hypercholesterolaemia (FH) in the UK.
  • To compare various US strategies with no screening.

Main Methods:

  • Seven cholesterol and/or mutation-based US strategies with or without reverse cascade testing (RCT) were compared against no US.
  • A decision model estimated costs and outcomes, utilizing UK CT data for RCT case ascertainment.
  • Probabilistic Markov models and Monte Carlo simulations (n=1000 per model) assessed lifetime costs and health outcomes.

Main Results:

  • A strategy of cholesterol screening, diagnostic genetic testing, and RCT emerged as the most cost-effective.
  • The incremental cost-effectiveness ratio (ICER) was £12,480 per quality-adjusted life year (QALY).
  • Cost-effectiveness remained robust across sensitivity and threshold analyses.

Conclusions:

  • Universal cholesterol screening followed by genetic testing and RCT is recommended for FH diagnosis in the UK.
  • This strategy aligns with the UK's conventional willingness-to-pay threshold.
  • Implementation of this comprehensive screening approach is supported by the findings.
Abstract

Keywords:
Cost-effectivenessHyperlipoproteinaemia type IISystematic population screening

More Related Videos

Examining BCL-2 Family Function with Large Unilamellar Vesicles08:35

Examining BCL-2 Family Function with Large Unilamellar Vesicles

Published on: October 5, 2012

8.4K
Author Spotlight: Cost-Effective Transcriptomic Drug Screening - Unlocking New Targets06:40

Author Spotlight: Cost-Effective Transcriptomic Drug Screening - Unlocking New Targets

Published on: February 23, 2024

1.8K

Related Concept Videos

Protein Families02:47

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
17.1K
Protein Families02:47

Protein Families

4.5K
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
10.0K
Gene Families01:57

Gene Families

3.8K
Intracellular Signaling Cascades01:24

Intracellular Signaling Cascades

Once a ligand binds to a receptor, the signal is transmitted through the membrane and into the cytoplasm. The continuation of a signal in this manner is called signal transduction. Signal transduction only occurs with cell-surface receptors, which cannot interact with most components of the cell, such as DNA. Only internal receptors can interact directly with DNA in the nucleus to initiate protein synthesis. When a ligand binds to its receptor, conformational changes occur that affect the...
53.7K
Predicting Products: SN1 vs. SN202:27

Predicting Products: SN1 vs. SN2

Nucleophilic substitution reactions of alkyl halides can proceed via an SN1 or an SN2 mechanism. While in SN2 reactions, the nucleophile attacks the substrate simultaneously as the leaving group departs, in SN1 reactions, the substrate first dissociates to give the carbocation intermediate. Various factors such as the structure of the substrate, the strength of the nucleophile, and the nature of the solvent promote one mechanism over the other.
With increased substitution on the alkyl halide,...
17.4K