HEALTHWhich patients should be screened for hemochromatosis?What was once the poster child of genetic medicine has turned out to be much more complicated than anyone thought possible.By Victoria Stagg Elliott, amednews staff. May 23/30, 2005. When David Little, MD, associate professor of family medicine at Wright State University in Dayton, Ohio, sees a patient with symptoms suggesting hemochromatosis, he orders several phenotypic diagnostic tests. After a confirmed diagnosis, he discusses genetic testing in a very specific way. "Genetic testing I reserve for people with the disease and their family members, to see who else might be at risk," he said. It's all part of a revolution. A decade ago, hemochromatosis was a rare genetic disorder that most primary care physicians had only read about in textbooks. Now, it's inching its way up the index of suspicion, and researchers and policy-makers are struggling with the question of what role genetic testing should play in screening for it. "Screening is a complicated topic," said Paul Adams, MD, professor of medicine at London Health Sciences Center in Ontario, who has been researching the issue for years. "It's better to diagnose early rather than late, but the gene test is very specific. Not everybody is marching towards bad complications of hemochromatosis, and there may be some negative aspects of screening." Most organizations, including the U.S. Centers for Disease Control and Prevention, advise against using this genetic test for the general population and recommend that it be used like Dr. Little does, at least at the moment. Increasingly, though, the question is being asked whether it is possible that there might be a role for this test somewhere between screening only family members and screening everybody in the population. Could there be specific groups for whom this test would be beneficial? [...]Full text of American Medical News content is available to AMA members and paid subscribers.
Copyright 2005 American Medical Association. All rights reserved.
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