The University of Southampton
University of Southampton Institutional Repository

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

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).

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;

Full text not available from this repository.

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


Local EPrints ID: 69988
PURE UUID: 603432b4-fa86-487a-aaad-a3a9f87fbb7d
ORCID for J. Picot: ORCID iD
ORCID for P. R. Roderick: ORCID iD

Catalogue record

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

Export record



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

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton:

ePrints Soton supports OAI 2.0 with a base URL of

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.