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

Psychosocial aspects of DNA testing for hereditary hemochromatosis in at-risk individuals: a systematic review
Psychosocial aspects of DNA testing for hereditary hemochromatosis in at-risk individuals: a systematic review
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
dna, genetics, systematic review, hereditary hemochromatosis
1945-0265
7-14
Picot, Joanna
324d6f20-a105-49fd-9fb0-88791be84ada
Bryant, Jackie
cd84de60-e9a2-4d7a-8ec6-6ca6276b12aa
Cooper, Keith
ea064f58-d71d-404a-bcf3-49d243b8825b
Clegg, Andy
838091f5-39df-4dbe-a369-675b26f2301b
Roderick, Paul
dbb3cd11-4c51-4844-982b-0eb30ad5085a
Rosenberg, William
cea47565-06a3-4622-931c-aa5a7686865c
Patch, Christine
b25a4961-4115-4516-ba1b-36c576736b06
Picot, Joanna
324d6f20-a105-49fd-9fb0-88791be84ada
Bryant, Jackie
cd84de60-e9a2-4d7a-8ec6-6ca6276b12aa
Cooper, Keith
ea064f58-d71d-404a-bcf3-49d243b8825b
Clegg, Andy
838091f5-39df-4dbe-a369-675b26f2301b
Roderick, Paul
dbb3cd11-4c51-4844-982b-0eb30ad5085a
Rosenberg, William
cea47565-06a3-4622-931c-aa5a7686865c
Patch, Christine
b25a4961-4115-4516-ba1b-36c576736b06

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), 7-14. (doi:10.1089/gtmb.2008.0064).

Record type: Article

Abstract

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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More information

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

Identifiers

Local EPrints ID: 72943
URI: http://eprints.soton.ac.uk/id/eprint/72943
ISSN: 1945-0265
PURE UUID: 2d8317fc-1a2e-4e49-95f0-85ab116802d8
ORCID for Joanna Picot: ORCID iD orcid.org/0000-0001-5987-996X
ORCID for Keith Cooper: ORCID iD orcid.org/0000-0002-0318-7670
ORCID for Paul Roderick: ORCID iD orcid.org/0000-0001-9475-6850

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Date deposited: 25 Feb 2010
Last modified: 14 Mar 2024 02:49

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Contributors

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

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