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.

Results communication and patient education after screening for possible hemochromatosis and iron overload: experience from the HEIRS Study of a large ethnically and linguistically diverse group

“…5,10 Other programs have also screened for C282Y/ H63D 11 or H63D/H63D. 12 Some have decided not to inform heterozygotes about their status 13 or instead to tell ϩ/ϩ individuals and C282Y carriers just that they were at "low risk to develop hemochromatosis" while inviting them to call if they wished to learn their actual genotype.…”

“…12 Some have decided not to inform heterozygotes about their status 13 or instead to tell ϩ/ϩ individuals and C282Y carriers just that they were at "low risk to develop hemochromatosis" while inviting them to call if they wished to learn their actual genotype. 5 Giving genotype information only to those at higher risk of IO is a strategy that may lessen confusion among low-risk carriers, but it reduces the chance to identify relatives with higherrisk genotypes through cascade screening.…”

It's ‘back to school’ for genetic screening

“…Community gatherings, 12 the workplace 13 and schools 14,15 are nonclinical settings where screening programmes have been offered.…”

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

“…These screening programmes include high public awareness, active invitation strategies and incentives for primary care practitioners. A workplace screening programme offering genetic testing reported uptake of 97%, however, this was the uptake in a group that had already expressed an interest by attending educational sessions [32]. This group was only 5.8% of the total, who were eligible to be offered screening.…”