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27-06-2011 | Cardiometabolic | Article

Cascade screening method for FH is ‘highly cost-effective’


Free abstract

MedWire News: Combining DNA testing and low-density lipoprotein (LDL) cholesterol measurements to screen relatives of patients with "definite" and "possible" familial hypercholesterolemia (FH) is highly cost-effective, study findings suggest.

Indeed, the researchers calculated that the incremental cost-effectiveness ratio of this strategy would be £3666 (€4,122; US$5,866) per quality-adjusted life year (QALY) gained. They add that technologic advances in the sensitivity and cost of DNA testing should make this method even more cost-effective in the future.

Currently, FH diagnosis is based on elevated cholesterol levels (typically >95th percentile), a family history of hyperlipidemia or early coronary heart disease (CHD), and the presence of xanthomas. Individuals fulfilling these criteria - known as the Simon Broome criteria - and who are carrying an FH-causing mutation are diagnosed as definite FH cases, while those showing only elevated LDL cholesterol and a family history of CHD are diagnosed as possible FH cases.

The authors say that clinical and cost-effective strategies for identifying patients with FH are "urgently required" because less than 15% of the predicted 111,000 affected FH patients in the UK are being diagnosed.

In the present study, Steve Humphries (University College London, UK) and colleagues performed a cost-utility analysis to estimate the treatment benefit from statins, if all diagnosed individuals were receiving high-intensity statin treatment (in line with National Institute for Health and Clinical Excellence guidelines on FH).

A total of 1000 individuals suspected of having FH (aged 50 years at inclusion if they were an index case and 30 years if they were a relative) were included in the analysis.

Reporting in the journal Heart, Humphries and team say that the most cost-effective screening strategy for people with suspected FH was one that combined DNA testing with LDL cholesterol testing in families with both clinically defined definite and possible FH. Specifically, this strategy resulted in an incremental cost-effective ratio of £3666 (€4,122; US$5,866) per QALY gained.

In fact, this approach was 100% cost-effective, as it fell well below the recommended £20,000 (€22,366; US$31,904) per QALY threshold currently used in the UK for evaluating interventions.

The researchers note that their model did not consider cascade testing in children. "If children were included in the case-finding approach, this strategy is likely to become even more cost-effective as the number of relatives per index case would increase," they say.

Humphries et al conclude: "The cost-effectiveness of DNA screening is likely to improve in the future as the proportion of definite FH patients in whom a mutation can be identified increases, because of improvements in techniques for mutation identification, and also because of the identification of new genes in which mutations cause FH."

MedWire ( is an independent clinical news service provided by Springer Healthcare Limited. © Springer Healthcare Ltd; 2011

By Nikki Withers