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Decoding Disease

Indeed, genetic science is moving so swiftly that, experts say, people now in their 60s, 70s and even 80s will see medical breakthroughs that will touch their lives.

“What’s happened in just this short period of time is dizzying to contemplate,” says Francis Collins, M.D., the scientist who directed the international Human Genome Project for the National Institutes of Health—and made news around the world.

Just five years ago Collins’ team completed the monumental project—mapping and sequencing all the genetic information encoded in DNA, the “instruction manual” for humans.

Using this astonishing guide, researchers can now compare the genes of groups of people who have a particular condition with groups of people who don’t, surveying the entire genome to find where the genetic differences lie. Such research is vital: Virtually every human ailment, except trauma caused in accidents, has some genetic basis.

The Human Genome Project, experts agree, is a watershed achievement in science.

It was Collins, a guitar-playing, motorcycle-riding geneticist, who brought the project in two years early and under budget. In an interview with the AARP Bulletin, the affable 58-year-old—who will leave his post Aug. 1—talks about the avalanche of information triggered by the genome, particularly in relation to older people.

To see the power and quickness of genomic science, he says, look at age-related macular degeneration, an eye disease that has left nearly 2 million Americans visually impaired.

“We’ve come a huge distance with this disease in the last few years,” Collins says. “Using new genomic tools, we’ve discovered two genes that account for about 60 percent of the risk—the rest is smoking. But we were surprised. These genes are involved in inflammation, and everybody was thinking macular degeneration was caused by aging in the back of the eye.”

Now, doctors are testing for ways to prevent the disease with anti-inflammatory drugs that “have been around for a long time,” Collins says. “Even something as simple as aspirin might have value. This is the best insight into this disease we’ve ever had, and it has completely changed the way we look at it.”

Scientists are optimistic that they’ll find similar breakthroughs for a host of other conditions.

“We knew many common diseases had hereditary links because we knew they tend to run in families,” Collins says. Over the years, scientists have pinpointed some 1,700 genes linked to disease, many of them powerful mutations of single genes. Each variation is responsible for a rare disease, such as Huntington’s, a degenerative brain disease. “But with the genome we are learning the underlying causes at work in complex diseases like diabetes or high blood pressure, which involve many genes, each with a modest effect,” Collins says. “It’s with these more common diseases that we’ve had the recent deluge of discoveries.”

A lanky Virginian, Collins earned a doctorate in chemistry at Yale and his M.D. at the University of North Carolina. He became a dedicated hunter of disease genes as a faculty member at the University of Michigan. Since 1993 he has worked at the epicenter of the genomic revolution, on the leafy NIH campus in Bethesda, Md. The National Human Genome Research Institute is tucked into a suite of beige-colored offices that look more like a dentist’s practice than the headquarters of a world-renowned research center. From here, Collins, who led a team that found the gene for Huntington’s and the gene for cystic fibrosis, oversees 500 scientists on the NIH campus and others at universities.

“Our best hope for curing diseases comes out of genomics,” Collins says, because it points to the problem of disease at the molecular level, rather than at symptoms or secondary effects.

Genomic discoveries are already pointing the way to new drugs that disrupt processes at the molecular level and to tests that predict one’s risk for a disease.

The research is also opening the way for a new “personalized medicine” that allows doctors to test a patient to determine which drugs will work most effectively with the patient’s genetic makeup. Last year the Food and Drug Administration recommended genetic tests for patients taking the blood thinner warfarin (also sold as Coumadin, Jantoven, Marevan and Waran) to help doctors prescribe the right dosages.

Studies show that 40 percent of those who take the drug have genetic variations that make them more sensitive to its effects and so need smaller doses. The genetic test can identify those at risk for bleeding complications from the drug.

“Soon, this kind of testing will be happening for asthma medications, antidepressants and cholesterol-lowering statins,” Collins says. “We should be able to do better with genetic evaluations of these drugs within three to four years.

“And boy, do we need more of this,” says Collins, who in September will be given the Andrus Award, AARP’s highest honor, for his contributions to science.

“Most of the time you go to the doctor, and the drug you’re given is one we arrived at empirically—we tried something and it seemed to work,” he says. “It’s one-size-fits-all medicine, and that’s not ideal. Now, with the genome, we have a whole new paradigm. It’s very exciting.”

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