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Genome hell is revealed in many forms


WHEN Francis Collins, director of the National Human Genome Research Institute, stood before the world's television cameras on Monday to announce the deciphering of the 3.1 billion units of DNA that make up the human genome, he declared, "This is a happy day for humankind."

But last summer he shared a different view at a gathering of the nation's pre-eminent geneticists.

"We are going to be going through hell, folks, because we will get to our diagnostic abilities ... but we won't have those therapeutic magic bullets that we hoped for," he said. "We will be going through hell."

So which is it, happy day for humankind or hell? Both are true.

Because we've just experienced a week of the media's gee-whiz genomic heaven, perhaps there is value in exploring the other place.

Conversations with local clinicians and researchers show this hell has many forms. For example, the commercialization of genetic science has raised new ethical questions about who gets access to our personal genetic information and how that information is used.

"We used to think in medicine as a general principle that the more information the patients have, the better decisions they could make," says Dr. Eric Wulfsberg, director of the Clinical Genetics and Dysmorphology (birth defect) Program at the University of Maryland Medical Center. "But clearly when it gets to the area of genetics, too much knowledge is not necessarily a good thing."

Wulfsberg notes a Swedish study in which parents were informed that their children had inherited a gene predisposing them to early-onset emphysema. The parents were told that avoidance of smoky environments would help prevent the disorder. But knowledge of their children's risk so heightened the parents' anxiety that they increased smoking, and the study was halted.

Recent studies of patients' reactions to receiving diagnoses of a gene mutation that increases the risk for breast cancer showed similar negative effects, including feelings of guilt by those escaping the diagnostic fate suffered by another family member.

Wulfsberg's concerns extend to how translating medical information into genetic diagnoses can undermine a patient's will to live.

"If you tell someone their cholesterol is high, they'll say, 'Oh, well, I guess I need to change my diet or I need to take a drug to lower my cholesterol.'

"If you tell someone that they have a 10 times higher risk of having heart disease because they have an altered gene, they're going to say, 'Poor me, it's in my genes. There's nothing I can do about it.' "

Jerry Winkelstein, director of the Pediatric Division for Allergy and Immunology at Johns Hopkins Hospital, asks you to suppose that a genetic test reveals you are a carrier of a gene that could result in a child with a life-threatening disease.

"When do you tell someone you're dating that you carry [the gene]?" Winkelstein says. "First date? After you're married? Or after a child is born? Would you ever tell them? ... Would you always keep it a secret? If you always keep it a secret you might as well not know yourself since it will have no practical benefit. So, there are lots of social, emotional, ethical, moral and cultural factors that could potentially impact your decision to even know whether you're a carrier," [of the disease gene].

Suppose you want a test for a particular genetic disease. Can you get access to the test?

Maimon Cohen, director of the Harvey Institute for Human Genetics at the Greater Baltimore Medical Center, says not always.

"Some of the charges on these tests to license them have really put them beyond the scope of utilization in everyday medicine," Cohen says.

He mentions Canavan's disease, a genetic degenerative brain disorder for which the patent for the test is held by the Children's Hospital of Miami.

"The Canavan's disease test has a hefty licensing premium which really puts the price of that test out of reach," he says. "So it has been dropped from several community screening panels because of this charge."

Commercialization is also having effects on basic biomedical research.

Roger Reeves, a professor of physiology at the Johns Hopkins School of Medicine, has no doubts about the potential for the human genome decoding to assist his nearly two-decade-long researches into understanding Down syndrome, a disorder affecting one in every 700 live births around the globe.

But Reeves says that on occasion he's had a "hard time" securing some of the biological tools needed for his research due to proprietary interests. Even when he's able to obtain them, the market lurks as a shadow over his progress.

"I may put years of work into demonstrating something, and then it turns out that somebody sequenced 50 base pairs [chemical units] of that [DNA] five years ago, and now they own everything that ever comes out of it. That doesn't seem very balanced," Reeves says.

The tension between research and commercial interests might have contributed to the death of a teen-ager last year during a genetic therapy trial at the University of Pennsylvania, according to Karen Rothenberg, dean of the University of Maryland School of Law.

Rothenberg sat on the federal committee that approved the protocols for the Penn doctor conducting the genetic therapy experiments. Referring to the fact that the doctor who performed the clinical experiment also owned a significant share of the company that would hold the patent on the therapy procedure if successful, Rothenberg says, "If you've got stock in a company, and you're doing research in the company, you're only a human being, right?"

However hot hell might get, there's no turning back. As Francis Collins advised colleagues last summer, this hell "is just something we are going to have to go through. And the sooner we come out the other end the better."

However long that takes, "The horse is out of the barn," says GBMC's Cohen. "Genetics today is no longer the province of geneticists. It belongs to everybody."

Ralph Brave is a writer based in Davis, Calif. He is working on a book on the post-genome era.

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