Psychosocial Aspects of DNA Testing for Hereditary Hemochromatosis in At-Risk Individuals: A Systematic Review

TY - JOUR

T1 - Psychosocial Aspects of DNA Testing for Hereditary Hemochromatosis in At-Risk Individuals

T2 - A Systematic Review

AU - Picot, Joanna

AU - Bryant, Jackie

AU - Cooper, Keith

AU - Clegg, Andy

AU - Roderick, Paul

AU - Rosenberg, William

AU - Patch, Christine

PY - 2009/2

Y1 - 2009/2

N2 - 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.

AB - 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.

KW - IRON-OVERLOAD

KW - IMPACT

KW - MUTATION

KW - DISEASE

KW - ATTITUDES

U2 - 10.1089/gtmb.2008.0064

DO - 10.1089/gtmb.2008.0064

M3 - Literature review

SN - 1945-0265

VL - 13

SP - 7

EP - 14

JO - Genetic Testing And Molecular Biomarkers

JF - Genetic Testing And Molecular Biomarkers

IS - 1

ER -