title: Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.
abstract: There is debate as to whether community genetic screening for the mutation(s) causing hereditary hemochromatosis (HH) should be implemented, due to issues including disease penetrance, health economic outcomes, and concerns about community acceptance. Hemochromatosis is a common preventable iron overload disease, due in over 90% of cases to C282Y homozygosity in the HFE gene. We are, therefore, piloting C282Y screening to assess understanding of genetic information and screening acceptability in the workplace setting. In this program, HaemScreen, education was by oral or video presentation in a group setting. C282Y status was assessed by polymerase chain reaction (PCR) and melt-curve analysis on DNA obtained by cheek-brush sampling. Of eligible participants, 5.8% (1.5-15.8%) attended information and screening sessions, of whom 97.7% (5571 individuals) chose to be tested. Twenty-two C282Y (1 : 253) homozygotes were identified and offered clinical follow-up. There were 638 heterozygotes (1 : 8.7). The determinants for participation have been analyzed in terms of the principles outlined in the Health Belief Model. Widespread screening for HH is readily accepted in a workplace setting, and a one-to-many education program is effective. The level of participation varies greatly and the advertizing and session logistics should be adapted to the specific features of each workplace.
authors.affiliation: Genetic Health Services Victoria, Murdoch Childrens Research institute, University of Melbourne Department of Paediatrics, Bruce Lefroy Center for Genetic Health Research, Victoria, Australia.
authors.forename: A E
authors.initials: AE
authors.lastname: Nisselle
authors.forename: M B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: V
authors.initials: V
authors.lastname: Collins
authors.forename: S
authors.initials: S
authors.lastname: Metcalfe
authors.forename: M A
authors.initials: MA
authors.lastname: Aitken
authors.forename: D
authors.initials: D
authors.lastname: du Sart
authors.forename: J
authors.initials: J
authors.lastname: Halliday
authors.forename: I
authors.initials: I
authors.lastname: Macciocca
authors.forename: A
authors.initials: A
authors.lastname: Wakefield
authors.forename: V
authors.initials: V
authors.lastname: Hill
authors.forename: A
authors.initials: A
authors.lastname: Gason
authors.forename: B
authors.initials: B
authors.lastname: Warner
authors.forename: V
authors.initials: V
authors.lastname: Calabro
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: K J
authors.initials: KJ
authors.lastname: Allen
mesh_terms: D000293:Adolescent; D000328:Adult; D000329:Advertising; D001294:Attitude to Health; D001315:Australia; D005260:Female; D005820:Genetic Testing / Q000458:organization & administration*; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010353:Patient Education as Topic; D017354:Point Mutation; D017132:Workplace