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Psychosocial aspects of DNA testing for hereditary hemochromatosis in at-risk individuals: a systematic review

Picot, Joanna, Bryant, Jackie, Cooper, Keith, Clegg, Andy, Roderick, Paul, Rosenberg, William and Patch, Christine (2009) Psychosocial aspects of DNA testing for hereditary hemochromatosis in at-risk individuals: a systematic review Genetic Testing and Molecular Biomarkers, 13, (1), pp. 7-14. (doi:10.1089/gtmb.2008.0064).

Record type: Article


Aim: to review the psychosocial benefits and harms of DNA testing for HFE-related hereditary hemochromatosis (HH) in at-risk individuals.

Background: HH is a common genetic disease in people of European descent. DNA-based predisposition testing is used for diagnosis or in the context of family testing, but there are concerns about potential psychosocial consequences.

Methods: fifteen electronic databases (including Medline and Cochrane) were searched from inception to April 2007 to identify any quantitative or qualitative primary research that considered DNA testing of individuals considered at-risk of HH and reported psychosocial outcomes. Inclusion criteria, data extraction, and quality assessment were undertaken by standard methodology.

Results: three observational studies met the inclusion criteria of the review; each had methodological limitations. On receipt of test results, anxiety levels fell or were unchanged; general health-related quality-of-life outcomes improved in some aspects, or were unchanged with respect to pretest result values. Outcomes were not reported separately for those referred for diagnosis and those with family history of HH. Results suggest that genetic testing for HH in at-risk individuals is accompanied by few negative psychosocial outcomes.

Conclusion: the evidence on the psychosocial aspects of DNA testing for HH in at-risk individuals is limited. Further research might be required if other factors influencing the natural history of the disease phenotype are identified

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Published date: February 2009
Keywords: dna, genetics, systematic review, hereditary hemochromatosis


Local EPrints ID: 72943
ISSN: 1945-0265
PURE UUID: 2d8317fc-1a2e-4e49-95f0-85ab116802d8
ORCID for Joanna Picot: ORCID iD
ORCID for Paul Roderick: ORCID iD

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Date deposited: 25 Feb 2010
Last modified: 18 Jul 2017 23:52

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Author: Joanna Picot ORCID iD
Author: Jackie Bryant
Author: Keith Cooper
Author: Andy Clegg
Author: Paul Roderick ORCID iD
Author: William Rosenberg
Author: Christine Patch

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