Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation

Abstract

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

“…Despite the difficulties in synthesizing the evidence and drawing conclusions from studies that employed diverse methods and reported results in different ways, common (Bryant et al, 2009).…”

“…Additional studies were sought by searching bibliographies of related publications and through contact with experts. Search strategies are available on request, and further details are available elsewhere (Bryant et al, 2009).…”

“…Two missense mutations (C282Y and H63D) within the HFE gene that are associated with a risk of hemochromatosis were described in 1996 (Feder et al, 1996). Methodologically robust studies have reported the homozygous prevalence of the most common mutation, C282Y, to be greater than 90% in Northern Europeans with hemochromatosis (Bryant et al, 2009). Iron overload, the phenotypic expression of the homozygous C282Y mutation, is variable.…”

“…Our systematic review of DNA testing in at-risk individuals (Bryant et al, 2009) evaluates the analytical validity, clinical validity, clinical utility, and associated ethical and psychosocial implications of DNA tests. Understanding psychosocial aspects of genetic testing such as discrimination, family implications, and psychological consequences is important for predicting potentialpatientconcernsthat genetic counseling shouldaddress.This paper summarizes and discusses our findings on the psychosocial aspects of genetic testing for HH in at-risk individuals.…”

“…Two studies report outcomes related to participants understanding of their test result (Hicken et al, 2004;Meiser et al, 2005). Full reporting on understanding of test results is available elsewhere (Bryant et al, 2009).…”