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A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations

Bryant, J., Cooper, K., Picot, J., Clegg, A., Roderick, P., Rosenberg, W. and Patch, C. (2008) A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations Journal of Medical Genetics, 45, (8), pp. 513-518. (doi:10.1136/jmg.2007.055806). (PMID:18310265).

Record type: Article

Abstract

Objective: To evaluate the clinical validity and clinical utility of DNA testing in people suspected of having hereditary haemochromatosis and in family members of those diagnosed with the disorder. Design: A systematic review.

Methods: 15 electronic databases were searched up to April 2007. For assessment of the clinical validity of genotyping for the C282Y mutation in the diagnosis of hereditary haemochromatosis, studies were included if they reported the use of DNA tests in Caucasians of northern European origin with iron overload suggestive of haemochromatosis compared with a control population, and reported or allowed calculation of sensitivity and specificity. For clinical utility, studies were included if participants were Caucasians with iron overload suggestive of haemochromatosis or were relatives of suspected cases, if the study compared a diagnostic strategy incorporating DNA testing with one not incorporating DNA testing, and if the study reported patient-based outcomes or some measure of cost effectiveness.

Results: 11 studies that could be used to evaluate clinical validity of genotyping for the C282Y mutation in the diagnosis of hereditary haemochromatosis were identified. Clinical sensitivity of C282Y homozygosity for hereditary haemochromatosis ranged from 28.4% to 100%; when considering studies that used strict criteria to classify hereditary haemochromatosis clinical sensitivity ranged from 91.3% to 92.4%. No clinical effectiveness studies were found. Two cost effectiveness studies were identified, both of which suggested that gene testing may be cost effective.

Conclusion: DNA testing for hereditary haemochromatosis in at-risk populations has clinical validity and may have clinical utility. The review highlights the limitations of the literature and the methodological difficulties associated with evaluating this genetic test.

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More information

e-pub ahead of print date: 29 February 2008
Published date: August 2008
Keywords: review, nhs, time, england, strategies, databases, diagnostic-tests, hfe gene, disorder, c282y, people, iron, outcome, h63d mutations, children, guidelines, family, london, publishing, population, dna, literature, validity, mutation, design, prevalence, disease, cost-effectiveness, outcomes, sensitivity and specificity, diagnosis, methods, systematic review

Identifiers

Local EPrints ID: 69980
URI: http://eprints.soton.ac.uk/id/eprint/69980
ISSN: 0022-2593
PURE UUID: c1890877-f0f4-490c-8e6b-632e335942aa
ORCID for J. Picot: ORCID iD orcid.org/0000-0001-5987-996X
ORCID for P. Roderick: ORCID iD orcid.org/0000-0001-9475-6850

Catalogue record

Date deposited: 20 Jan 2010
Last modified: 19 Jul 2017 00:05

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Contributors

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

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