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


CONCLUSIONS
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.
Picot
Joanna
J
Southampton Health Technology Assessments Centre, University of Southampton, Southampton, United Kingdom. j.picot@soton.ac.uk
Bryant
Jackie
J
Cooper
Keith
K
Clegg
Andy
A
Roderick
Paul
P
Rosenberg
William
W
Patch
Christine
C
D001007:Anxiety; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000523:psychology*; D016208:Databases, Factual; D004644:Emotions; D005260:Female; D005820:Genetic Testing / Q000523:psychology*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D011584:Psychology; D012107:Research Design; D012307:Risk Factors
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D004247:DNA