Genetic screening for iron overload disorder suggested

Testing people to identify those at risk of developing a preventable genetic condition does not make them more anxious, Australian researchers have found. The team investigated the effect of carrying out a genetic test for haemochromatosis, a disorder that causes the body to absorb too much iron. They found that people identified as being at risk of the condition opted to take preventative steps to remain healthy. The study, published early online in the Lancet, suggests that widespread genetic screening for haemochromatosis could be feasible.

Symptoms of haemochromatosis can include chronic fatigue, liver damage, diabetes, abdominal pain, heart problems, joint pain and 'bronzing' of the skin. However, people with the condition can be treated by regular removal of blood, and by avoiding too much iron in their diets. Haemochromatosis is caused by a mutation in the HFE gene. People who inherit two copies of this mutation - one from each parent - are at risk of the disorder, although many people with two mutated genes will never develop symptoms. People who inherit just one copy of the mutated HFE gene are healthy 'carriers' of the condition.

In the Australian study, carried out at the Murdoch Children's Research Institute in Melbourne, the researchers wanted to find out if they could alert people at risk of haemochromatosis, without causing other problems, such as anxiety. The team asked 11,841 people in over 100 different workplaces to provide cheek swab samples for DNA testing. The vast majority (96 per cent) agreed to be tested for the HFE gene mutation, and 51 people were identified as being at risk of the disorder, four of whom were already aware of the fact. A month after receiving the test results, these individuals did not report increased anxiety, compared to people who had one or no copies of the mutation. Importantly, 46 of the 47 participants newly identified as being at risk of haemochromatosis opted to have their blood iron levels monitored regularly.

Study author Katie Allen said fears that genetic testing would turn healthy people into patients, and that participants would not understand the difference between having the gene mutation and having the condition, were unfounded. She said that 'overwhelmingly, people had a very good understanding of the concept of genetic screening as long as you explained it to them in simple terms'. The team also obtained an agreement from life insurance providers in Australia, assuring participants that they would not be charged higher premiums if they were found to be at risk of haemachromatosis. The researchers secured this by saying that people who underwent genetic testing would be able to take preventative measures if necessary, and so were less likely to become ill in the long term.

The scientists say that an economic study is now underway, to see if widespread genetic screening for haemochromatosis would be cost-effective. They conclude that if this can be shown, such a programme should be implemented since the condition can be prevented by simple measures, and 'the risks of such screening are very low and genetic discrimination need not occur'. An editorial accompanying the research, by Canadian haemochromatosis expert Paul Adams, comments that the study is 'a strong endorsement for the feasibility and acceptability of genetic testing for haemochromatosis in the workplace'. However, he also stressed that 'it is likely that optimum screening strategies, including no screening, will vary in different countries depending on various medical, ethical, legal and social issues'.