Scientific Highlight April 2009

Transcription

1 Scientific Highlight April 2009 Institute/ Independent Department / Clinical Co-operation Group / Junior Research Group: Institute of Health Economics and Health Care Management PSP-Element: G Person to contact for further enquiries: Dr. Wolf Rogowski, Rogowski@helmholtz-muenchen.de, Title of the Highlight: Cost-effectiveness analysis of novel genetic screening programs: results from a modelling study on hereditary hemochromatosis Keywords: Cost-Effectiveness Analysis; Genetic Screening; Hereditary Hemochromatosis Central statement of the Highlight in one sentence: A cost-effectiveness analysis shows that rather than either using genetic or phenotypic markers, the most cost-effective use of DNA-tests in screening for hereditary hemochromatosis is a new blend of genetic and phenotype-base testing. Text of the Highlight: Genetic tests for hereditary hemochromatosis (HH) are currently included in the German ambulatory care reimbursement-scheme, but only for symptomatic individuals and the offspring of HH patients. To examine whether screening in the broader population is cost-effective and to identify the best choice of initial and follow-up screening tests, the most recent scientific evidence on screening for hereditary hemochromatosis was synthesized in a decision-analytic model. Three strategies were considered in both the general population and male offspring of HH patients: phenotypic (transferrin saturation, TS), genotypic (C282Y mutation), and sequential (genotype if TS is elevated) screening. The incremental cost-effectiveness of sequential screening among male offspring, sequential population-wide screening and genotypic screening were 41,000, 124,000 and 161,000 EUR/LYG, 1

2 respectively. All other strategies were less effective and more costly than these or a blend of these strategies. Due to a lack of data on the epidemiology of hereditary diseases and the impact of genetic testing on health outcomes, the results are subject to high uncertainty. Adherence of patients to preventive phlebotomy was among the most uncertain parameters. The current German policy of only screening at-risk individuals was shown to be consistent with health economic decision-making based on typically accepted thresholds. However, conducting the DNA test after the first elevated TS result is more cost-effective than waiting for a second TS result as recommended by the German guidelines. Further empirical work regarding adherence to long-term prevention recommendations are needed. Publication: Rogowski, W.H. The Cost-Effectiveness of Screening for Hereditary Hemochromatosis in Germany: A Remodeling Study. Med Decis Making (2009) [Epub ahead of print] Taking account of the HMGU mission: Translational genetics research is of key importance in the HMGU. This study shows at the example of hereditary hemochromatosis how the variety of novel testing applications evolving from bench to bedside can be integrated into existing health service provision to facilitate cost-effective innovation with positive impact both on patient health and health care systems as a whole. The internal HMGU co-operation partners with whom the Highlight was compiled, if appropriate: 2

3 Modeling approaches to identify cost-effective health care: screening for hemochromatosis Early and applied research Basic research: 1996 HFE mutation in hereditary hemochromatosis identified Epidemiological research: e.g. the Hemochromatosis and Iron Overload Screening with more than 100,000 participants Applied research: German pilot study of DNA-based screening Health economic analysis Decision model structure: 7 strategies for blood vs. new DNA test Synthesis of epidemiologic & economic parameters from translational research Probabilistic analysis of joint parameter uncertainty

4 Modeling results: cost-effectiveness of different screening strategies male cascade screening (transferrin saturation (TS)+TS; TS+HFE; HFE only)? male population screening (same three strategies) Results (incremental cost-effectiveness ratios) do nothing Male cascade TS+HFE (1) vs. nothing: 40,000 /LYG Male population TS+HFE (2) vs. (1): 124,000 /LYG Male population HFE vs. (2): 160,000 /LYG

5 Translating knowledge into cost-effective health care Cost-effective integration of genomics into medical care is a matter of how rather than of whether or not to use the innovative test Economically, not population DNA screening but better integration of DNA tests into current testing strategy is warranted IGM currently applies health economic modelling also to other conditions in environmental health, e.g. strategies against radon exposure