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Human chromosome
map almost reality

By Helen Altonn
Star-Bulletin

Researchers this spring will finish the final draft of a map of the human chromosome which, printed out, would fill one million telephone book pages or 23 sets of the Encyclopedia Britannica.

"It is an amazing technological achievement," Dr. Alan Guttmacher, senior adviser to the director for clinical affairs at the National Human Genome Research Institute, National Institutes of Health, said today.

"It will make an incredible difference in health care."

It also raises legal, ethical and social concerns, which are being addressed with 5 percent of genome research funds earmarked to consider those issues, Guttmacher said.

He discussed the $3 billion International Human Genome Project at a breakfast meeting of political, business and other representatives at the Hilton Hawaiian Village.

He is among speakers at a three-day conference sponsored by The Queens Medical Center on genetics and molecular biology, "From Discovery to Practice."

The human genome consists of about three billion chemical bases, Guttmacher said, with disease often caused by a single variation or "specific spelling error" in the one million telephone pages. It will take a couple of years to fill in holes and correct any mistakes in the detailed map of genes, he said. The next important step is to translate the information so it will make an impact on lives, he said.

David Cox, genetics and pediatrics professor in Stanford University's Department of Genetics, said it could cost $30 billion to develop medications and hold clinical tests so the information can be applied to improve health.

Unless that is done, he said, "it will be a shallow victory. We will have all the technology and not be able to use it."

Guttmacher said health care can be individualized with the genetics information. A doctor may produce a personalized index of health risks for a patient simply by swabbing that person's cheek to get a genetic picture, he said. It may tell a person, for instance, that he has a higher than normal risk for colon cancer, he said. "He can go home and worry the rest of his life about colon cancer or he can have a lot of bran for breakfast."

People may shun genetic tests fearing a certain health risk could cost them their job or cause a hike in their insurance rates, he said, stressing the need to to deal with social issues.

Hawaii is one of the states taking the lead in the social and cultural aspects of genetics, with laws to protect medical information, Guttmacher said. He said there are "some wonderful opportunities" for Hawaii to attract biotechnology companies for research on genetics-related issues.