Cascade screening based on genetic testing is cost-effective: evidence for the implementation of models of care for familial hypercholesterolemia

J Clin Lipidol. 2014 Jul-Aug;8(4):390-400. doi: 10.1016/j.jacl.2014.05.008. Epub 2014 Jun 12.


Background: Familial hypercholesterolemia (FH) imposes significant burden of premature coronary heart disease (CHD).

Objective: This study aimed to determine the cost-effectiveness of FH detection based on genetic testing, supplemented with the measurement of plasma low-density lipoprotein cholesterol concentration, and treatment with statins.

Methods: A Markov model with a 10-year time horizon was constructed to simulate the onset of first-ever CHD and death in close relatives of probands with genetically confirmed FH. The model comprised of 3 health states: "alive without CHD," "alive with CHD," and "dead." Decision-analysis compared the clinical consequences and costs of cascade-screening vs no-screening from an Australian health care perspective. The annual risk of CHD and benefits of treatment was estimated from a cohort study. The underlying prevalence of FH, sensitivity, specificity, cost of screening, treatment, and clinic follow-up visits were derived from a cascade screening service for FH in Western Australia. An annual discount rate of 5% was applied to costs and benefits.

Results: The model estimated that screening for FH would reduce the 10-year incidence of CHD from 50.0% to 25.0% among people with FH. Of every 100 people screened, there was an overall gain of 24.95 life-years and 29.07 quality-adjusted life years (discounted). The incremental cost-effectiveness ratio was in Australian dollars, $4155 per years of life saved and $3565 per quality-adjusted life years gained.

Conclusion: This analysis within an Australian context, demonstrates that cascade screening for FH, using genetic testing supplemented with the measurement of plasma low-density lipoprotein cholesterol concentrations and treatment with statins, is a cost-effective means of preventing CHD in families at risk of FH.

Keywords: Cost-effectiveness; Prevention; Screening.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Australia
  • Cholesterol, LDL / blood
  • Cohort Studies
  • Cost-Benefit Analysis*
  • Evidence-Based Medicine
  • Female
  • Genetic Testing* / methods
  • Humans
  • Hyperlipoproteinemia Type II / diagnosis*
  • Hyperlipoproteinemia Type II / economics
  • Hyperlipoproteinemia Type II / genetics
  • Male
  • Markov Chains
  • Middle Aged
  • Sensitivity and Specificity


  • Cholesterol, LDL