Factors affecting the uptake of screening: A randomised controlled non-inferiority trial comparing a genotypic and a phenotypic strategy for screening for haemochromatosis

Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: Assessment of anxiety, depression, and perception of health

“…Our previous analysis of equivalence/noninferiority showed no difference in uptake between the two strategies. 14 These findings suggest that when a genotypic strategy is used for screening in this context the outcomes are similar to a phenotypic strategy. The method of testing was different between the two groups in that the genotypic testing was performed at home on a mouthwash sample, and the phenotypic testing was performed on a blood sample taken at the doctor's surgery.…”

“…14 In brief the trial randomly selected 3000 participants from two general practice (family doctor) registers; the participants were aged between 30 and 70 years and stratified by two age groups and gender. They were randomized to the phenotypic or the genotypic screening strategy and invited by their general practitioner to participate in the study.…”

Screening forHFEand Iron Overload

“…A recent study reported that there was no difference in participation rates between the genetic and phenotypic testing strategies among 3000 individuals offered screening by their local family physicians, although the phenotypic screening strategy cost less per case detected than genetic testing. 74 To date there have been no formal cost-effective studies evaluating genotypic screening and therefore the distinctions between genetic and nongenetic screening are insufficient to convincingly justify one as preferable over the other. As a consequence of variable penetrance of the C282Y mutation and different disorders contributing to iron overload in different countries, there is currently no general consensus as to whether generalized screening is appropriate and which strategy is most costeffective.…”

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

“…However, population screening studies that were excluded from this review (Bryant et al, 2009) and others report similar findings to those reported here. For instance, when phenotypic and genotypic screening strategies have been compared, both have been acceptable (Anderson et al, 2005;Patch et al, 2005b) and little psychological disturbance has been apparent in the short term with either strategy (Patch et al, 2004;Patch et al, 2005a). Negative psychosocial consequences have been reported to be rare (Power et al, 2007;Stuhrmann et al, 2005) and in common with the results reported in this review; receipt of indeterminate test results for hemochromatosis is associated with mild negative effects (Anderson et al, 2006).…”