Major gene screening trial allays fears

By Rachel Nowak, Melbourne What may be the largest test yet of the use of genetic screening in the general population has found that people do not become more anxious if they are identified as being at risk of developing a serious, but easily-preventable disease – in this case haemochromatosis. The majority of people who were identified as being at risk also took the steps necessary to stay healthy. “There were concerns that we would turn healthy people into patients; concerns that the general population wouldn’t understand the difference between having the gene and having the disease,” says liver specialist Katie Allen of the Murdoch Children’s Research Institute in Melbourne, Australia, one of the study leaders. “But, overwhelmingly, people had a very good understanding of the concept of genetic screening as long as you explained it to them in simple terms,” she says. People with haemochromatosis absorb too much iron from their intestine. The iron builds up in their bodies and can lead to liver cirrhosis, heart problems, diabetes, chronic tiredness and other disorders including impotence. The problems usually occur when person reaches their 40s or beyond. One in 200 Northern Europeans carry the gene that leads to the disorder. About 60% of those will develop abnormally high iron levels, and a small fraction of those will develop life-threatening symptoms. The condition is completely preventable if you give blood regularly to prevent iron build-up. To see if it was possible to alert people to their risk of developing haemochromatosis without causing other problems – such as anxiety – Allen and her colleagues offered to collect cheek swabs from 11,800 people in over 100 workplaces and test them for the genes that cause haemochromatosis. Ninety-six per cent of those asked took up the offer. Allen’s team also obtained an agreement from life insurance providers in Australia that they would not charge higher premiums simply because a person knew that they had the genetic predisposition. They obtained the agreement by arguing that people who got tested could take precautions, and would therefore be less likely to become ill in the long term. Forty-seven people were identified as having the defect, called HFE. These people did not suffer any more anxiety than those without the defect, according to questionnaires given before the swab was taken and a month after receiving the results. Forty-six of the 47 began an ongoing monitoring of their iron levels, and gave blood if necessary. “The only barrier to screening for haemochromatosis is cost,” says Allen. The test costs A$5 per person, but would be expected to come down with more widespread use. But using gene screening to test healthy people for their risk of developing different diseases is likely to remain contentious because of fears of discrimination, and the emergence of a society like that depicted in the science fiction movie Gattaca. In the film, genetic screening at birth is used to predetermine each individual’s eventual role in society. “Each genetic screen needs to be tested on its own merit,” says Dorota Gertig, an epidemiologist at the University of Melbourne. “Screening for haemochromatosis looks promising because it is easily treated. But there will be other diseases where the issues are much more complicated, and people have a right to be concerned.” Journal reference: The Lancet (DOI:
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