Genetic discrimination, a non-issue just a few years ago, has come to the forefront because of advances made in genetic testing. These advances can give us information that can lead to prevention and even to cures. But while genetic testing holds great promise, many Americans fear discrimination by insurance companies because of their genetic makeup and worry about the possible loss of insurance that could ultimately help them get medical treatment.

A study looking at the prevalence of genetic discrimination among people with hemochromatosis, the most common genetic disorder in the United States, is being presented this week at the annual meeting of the American College of Gastroenterology. Bruce R. Bacon, M.D., director of the division of gastroenterology and hepatology at Saint Louis University School of Medicine, is a co-author of the study.

"This study is unique in that we surveyed people who have a genetic diagnosis of hemochromatosis, but no symptoms of the disease," Dr. Bacon said.

Subjects were asked to describe any instances when they felt their disease diagnosis affected their acquisition of insurance or employment, or if they felt discriminated against socially. Twenty-six percent of the study participants described insurance or social issues as episodes of discrimination. Of these, 13 percent involved life insurance, 10 percent involved health or disability insurance and 3 percent involved social stigmatization.

"Several people described being quoted much higher premiums after telling an insurance company about their hemochromatosis diagnosis, and others told of being denied coverage altogether," Dr. Bacon said.

In hemochromatosis, the body absorbs too much iron. Untreated, the iron builds up to toxic levels, damaging organs and tissues such as the liver, pancreas and heart. Cirrhosis of the liver, liver cancer, diabetes, impotence and heart failure can be caused or worsened by hemochromatosis. "We chose to look at patients with hemochromatosis regarding genetic discrimination because it's a common disease with an effective genetic test available, and early diagnosis and treatment can mean a normal life expectancy," Dr. Bacon said.

But a diagnosis of hemochromatosis is not the only disease that puts people at risk of genetic discrimination. There have been hundreds of cases of genetic discrimination in the past few years against carriers of other diseases such as sickle-cell anemia, Huntington's disease and cystic fibrosis.

Dr. Bacon and colleagues urge more efforts to educate insurers and the public about genetic discrimination so wide-scale screening programs can be implemented.

"People may be reluctant to take advantage of genetic tests that could save their lives," Dr. Bacon said. "In hemochromatosis, for example, symptoms usually do not appear until between 40 and 60 years of age. By then, the patient may have already sustained serious liver damage. Early detection is essential. No one should be afraid to seek information to make educated choices regarding their health."

More than 25 states have enacted some form of genetic nondiscrimination in health insurance legislation. Missouri currently has one such law pending, and Illinois has enacted a law that protects against genetic discrimination in the workplace.

Editor's Note: To arrange an interview with Dr. Bacon, please contact Jennifer Frakes, health sciences center media relations, at (314) 977-8018.