People who inherit two copies of a mutation in a gene called HFE are predisposed to haemochromatosis. The disorder, which affects one in 200 north Europeans, causes the body to absorb and store too much iron. If untreated, the disorder can result in liver cirrhosis, heart problems, diabetes, arthritis and chronic fatigue. Genetic screening for the condition is controversial because not everyone who has the mutation develops the disorder, insurers and employers may discriminate against carriers of the mutation, and screening may cause anxiety.
In the study Katie Allen (Murdoch Children's Research Institute, Melbourne Australia) and colleagues took cheek brush samples from 11, 800 adults, in their workplaces in Australia. They screened the samples for the HFE mutation and identified 47 participants who had two copies of the mutation and 1338 individuals who had one copy of the mutation. 46 of the 47 newly identified carriers took steps to prevent or treat iron accumulation. Almost all the participants were pleased they had the test and there was no increase in anxiety in the individuals who had two copies of the gene. All individuals who had the gene mutation and sought insurance had their policies underwritten at normal standard rates. This was due to an agreement the authors achieved with the Australian insurance industry to ensure mutation carriers were not discriminated against.
Dr Allen concludes: "Health economic considerations are vital to decisions regarding screening programmes. An economic analysis of this programme is currently ongoing. If genetic screening is shown to be cost-effective, it should be implemented since hereditary haemochromatosis can be prevented by simple measures and, as shown in our study, the risks of such screening are very low and genetic discrimination need not occur."
In an accompanying comment Paul Adams (London Health Sciences Centre, Ontario, Canada) states: "This study is a strong endorsement for the feasibility and acceptability of genetic testing for haemochromatosis in the workplace…It is likely that optimum screening strategies, including no screening, will vary in different countries depending on various medical, ethical, legal, and social issues."
Contact: Dr Katie J Allen, Murdoch Children's Research Institute, Royal Children's Hospital Hospital, Parkville, Victoria, 3052, Australia. Telephone: +613-8341-6200
katie.allen@rch.org.au
Comment: Professor Paul C Adams, Department of Medicine, London Health Sciences Centre - University Campus, 339 Windermere Road, London, Ontario N6A 5A5, Canada.
T) +1 519 663 3513 padams@uwo.ca
Journal
The Lancet