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).


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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

Item Type: Article
Digital Object Identifier (DOI): doi:10.1089/gtmb.2008.0064
ISSNs: 1945-0265 (print)
Related URLs:
Keywords: dna, genetics, systematic review, hereditary hemochromatosis

ePrint ID: 72943
Date :
Date Event
February 2009Published
Date Deposited: 25 Feb 2010
Last Modified: 18 Apr 2017 20:53
Further Information:Google Scholar

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