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Published on: October 12, 2017
Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial
Marion Kerr1, Robert Pears2, Zofia Miedzybrodzka3
1Economics Department, Insight Health Economics Ltd., 16 Cambrian Road, Richmond, Surrey TW10 6JQ, UK.
Insights
Cascade testing for familial hypercholesterolaemia (FH) is highly cost-effective, identifying genetic disorders and reducing premature mortality. Increasing testing rates significantly improves cost-effectiveness and patient outcomes.
Area of Science:
- Medical Genetics
- Health Economics
- Public Health
Background:
- Familial hypercholesterolaemia (FH) is an underdiagnosed genetic disorder linked to early coronary heart disease and mortality.
- Expired patents on high-intensity statins have lowered FH treatment costs.
- Effective treatment can substantially reduce the risks associated with FH.
Purpose of the Study:
- To estimate the cost-effectiveness of DNA testing for relatives of individuals with monogenic FH using UK data.
- To evaluate the economic impact of cascade testing services for FH.
Main Methods:
- A Markov model was employed to assess the cost-effectiveness of cascade testing.
- Data from UK cascade services were utilized for the model.
- Cost-effectiveness was analyzed based on incremental cost-effectiveness ratio (ICER) and net marginal lifetime costs.
Main Results:
- The estimated ICER for cascade testing was £5806, with net marginal lifetime costs of £2781 per relative tested.
- Diagnosis-related costs accounted for over 80% of lifetime costs, incurred within the first year.
- A higher testing rate (3.2 relatives per index case) could reduce the ICER to £2280 and lifetime costs to £1092.
Conclusions:
- Cascade testing of relatives for suspected FH is a highly cost-effective strategy.
- Addressing the high prevalence of undiagnosed FH in Europe can lead to significant gains in quality of life and survival.
- Widespread adoption of cascade testing services is recommended to mitigate FH-associated morbidity and mortality.
Aims:
Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature mortality which can be substantially reduced by effective treatment. Patents have recently expired on high-intensity statins, reducing FH treatment costs. We build a model using UK data to estimate the cost effectiveness of DNA testing of relatives of those with monogenic FH.
Methods And Results:
A Markov model was used to estimate the cost effectiveness of cascade testing, using data from UK cascade services. The estimated incremental cost effectiveness ratio (ICER) was £5806 and the net marginal lifetime cost per relative tested was £2781. More than 80% of lifetime costs were diagnosis-related and incurred in the 1st year. In UK services, 23% of 6396 index cases were mutation-positive. For each mutation-positive index case, 1.33 relatives were tested, resulting overall in a rate of 0.31 tested relatives per tested index case. If the number of relatives tested per tested index case rose to 3.2 (projected by National Institute for Health and Care Excellence in 2008) the ICER would reduce to £2280 and lifetime costs to £1092.
Conclusion:
Cascade testing of relatives of those with suspected FH is highly cost effective. The current Europe-wide high levels of undiagnosed FH, and associated morbidity and mortality, mean adoption of cascade services should yield substantial quality of life and survival gains.
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