Cascade Screening Based on Genetic Testing is Cost-effective: Evidence for the Implementation of Models of Care for Familial Hypercholesterolaemia

Cascade Screening Based on Genetic Testing is Cost-effective: Evidence for the Implementation of Models of Care for Familial Hypercholesterolaemia

• Zanfina Ademi, MPharm, MPH, PhD
, 
• Gerald F. Watts, DSc, MBBS, PhD, DM, FRCP, FRAC
, 
• Jing Pang, PhD
, 
• Eric J.G. Sijbrands, MD, PhD
, 
• Frank M. van Bockxmeer, PhD, MHGSA, FFSc (RCPA), FAHA
, 
• Peter O'Leary, BSc, PhD, MAACB, ARCPA, FFSc (RCPA)
, 
• Elizabeth Geelhoed, PhD
,
• Danny Liew, MBBS, FRCP, PhD

Received 5 March 2014; received in revised form 6 May 2014; accepted 29 May 2014. published online 16 June 2014.
Accepted Manuscript

• Abstract
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Abstract 

Background

Familial hypercholesterolaemia (FH) imposes significant burden of premature coronary heart disease (CHD).

Objective

This study aimed to determine the cost-effectiveness of FH based on genetic testing, supplemented with the measurement of plasma low-density-lipoprotein (LDL) 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 three health states: ‘Alive without CHD; ‘Alive with CHD’; and ‘Dead’. Decision-analysis compared the clinical consequences and costs of cascade-screening versus no-screening from an Australian healthcare perspective. The annual risk of CHD and benefits of treatment was estimated from cohort study. The underlying prevalence of FH, sensitivity, specificity, cost of screening, treatment and clinic follow-up visits were derived from a cascade-screening 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 (QALYs) (discounted). The incremental cost-effectiveness ratio (ICER) was AUD $4,155 per years of life saved (YoLS) and AUD $3,565 per QALY gained.

Conclusion

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

Key words: cost-effectiveness, screening, prevention

Abbreviations: AR-DRG, Australian Refined Diagnosis Related Groups, AIHW, Australian Institute of Health and Welfare, AUD, Australian dollars, CHD, Coronary heart disease, DNA, deoxyribo nucleic acid, FH, Familial hypercholesterolemia, LDL-C, Low-density lipoprotein cholesterol, HR, Hazard ratio, ICER, Incremental cost-effectiveness ratio, LDLr, Low-density lipoprotein receptor, MONICA, Monitoring Trends in Cardiovascular Disease, MI, myocardial infarction, NNS, Number needed to screen, PBS, Pharmaceutical Benefit Scheme, PCSK9,Proprotein convertase subtilisin/kexin 9, QALY, Quality-adjusted life year, REACH, Reduction of Atherothrombosis for Continued Health, RR,Relative risk, YoLS, Year of life saved, WA, Western Australia