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A decision analysis model for diagnostic strategies using DNA testing for hereditary haemochromatosis in at risk populations

Record type: Article

BACKGROUND: New techniques for diagnosing hereditary haemochromatosis (HHC) have become available alongside traditional tests such as liver biopsy and serum iron studies. AIM: To evaluate DNA tests in people suspected of having haemochromatosis at clinical presentation compared to liver biopsy, and in family members of those diagnosed with haemochromatosis compared to phenotypic iron studies in UK. METHODS: Decision analytic models were constructed to compare the costs and consequences of the diagnostic strategies for a hypothetical cohort of people with suspected haemochromatosis. For each strategy, the number of cases of haemochromatosis identified and treated and the resources used were estimated. RESULTS: For diagnostic strategies in people suspected clinically of having haemochromatosis, the DNA strategy is cost saving compared to liver biopsy (cost saved per case detected, 123 pounds) and continues to be so across all ranges of parameters. For family testing, the DNA strategy is cost saving for the offspring of the proband but not for siblings. If the DNA test cost were to reduce by 40% to 60 pounds or, if in the phenotypic model, those with initially normal iron indices were retested twice instead of once, the DNA strategy would be the cheaper one. CONCLUSION: Diagnostic strategies involving DNA testing are likely to be cost saving in clinical cases with iron overload and in the offspring of index cases. This study supports the UK guideline recommendations for the use of DNA testing in UK
WEB/URL: PM:18522976;

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Citation

Cooper, K., Bryant, J., Picot, J., Clegg, A., Roderick, P. R., Rosenberg, W. M. and Patch, C. (2008) A decision analysis model for diagnostic strategies using DNA testing for hereditary haemochromatosis in at risk populations QJM: An International Journal of Medicine, 101, (8), pp. 631-641. (doi:10.1093/qjmed/hcn070).

More information

Published date: 2008
Keywords: research support, pathology, risk, model, economics, hemochromatosis, cohort, iron, family, blood, strategies, analysis, biopsy, trace elements, male, genetics, cost-benefit analysis, serum, humans, liver, diagnosis, people, dna, phenotype, sensitivity and specificity, health technology assessment, population, health, great britain, genetic screening, decision support techniques, iron overload, evaluation studies, decision trees, female, research, genetic markers, methods

Identifiers

Local EPrints ID: 69988
URI: http://eprints.soton.ac.uk/id/eprint/69988
PURE UUID: 603432b4-fa86-487a-aaad-a3a9f87fbb7d
ORCID for J. Picot: ORCID iD orcid.org/0000-0001-5987-996X
ORCID for P. R. Roderick: ORCID iD orcid.org/0000-0001-9475-6850

Catalogue record

Date deposited: 13 Jan 2010
Last modified: 19 Jul 2017 00:05

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Contributors

Author: K. Cooper
Author: J. Bryant
Author: J. Picot ORCID iD
Author: A. Clegg
Author: P. R. Roderick ORCID iD
Author: W. M. Rosenberg
Author: C. Patch

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