Tuesday, June 27, 2000

Cures for diseases will take time

By Peggy O'Farrell
The Cincinnati Enquirer

        One day, a simple blood test could tell people if they're genetically predisposed for heart disease, diabetes, cancer or a host of other common, but potentially fatal, ailments. But identifying a risk factor and preventing sickness are different things, experts say. So are having a map of the human genome and using that map to steer consumers to optimum health.

        News that the Human Genome Project is nearly complete is a huge step in identifying, and one day possibly correcting, the genetic glitches that contribute to disease, experts say.

        But it's only the first step.

  • What happened?
  Two teams of scientists announced Monday they have completed a rough draft of the human genetic code — the basic blueprint of human life — in what is potentially one of history's greatest medical breakthroughs.
  • What does it mean?
  Experts predict the map will lead to many improved treatments for a wide range of diseases. However, some ethicists worry a Pandora's box has been opened.
  • Infographic: The human genome
  • Continuing coverage from Associated Press
        Once the map is complete and doctors know where the genes are, they still have to discover the mechanisms by which genes influence body function “and how to modify that or change that so we can figure out how to cure disease or fix disease,” said Dr. John Schroder, an internal medicine specialist with Alliance Primary Care in Oakley.

        Scientists have had little luck so far with genetic therapies — actually manipulating defective genes by implanting new, healthy genetic material — but that could change in a few decades with the genome map.

        In day-to-day medicine, the genetic map will probably get its biggest workout as a new tool — albeit a high-tech, high-dollar, whiz-bang kind of tool — for prevention.

        The genome map can be used to develop screening tests and profiles “that will give us a better idea of how some people might be predisposed to common disorders” such as cancer, heart disease and some infectious diseases, said Dr. Gregory Grabowski, director of the division and program in human genetics at Children's Hospital Medical Center.

        The profiles can help doctors tailor prevention strategies “so that we can change the way we do medicine to start to do more early intervention,” Dr. Grabowski said.

        Doctors can already identify a handful of genes that indicate an individual might develop disease one day: Genetic markers for breast and colon cancers, along with diseases such as Tay-Sachs and cystic fibrosis, are routinely tested for.

        The human genome map broadens the scope of those tests to include just about everything, including ailments doctors may not now know involve a genetic component.

        The map doesn't give doctors the cure for cancer, Dr. Grabowski and other experts say. But it does provide an important piece of the puzzle in how to prevent cancer from developing.

        “This will have an enormous impact,” Dr. Grabowski said, including potentially cutting the cost of preventing widespread chronic diseases.

New medicines
        Scientists can also use the human genome map to develop new, more effective medicines once they have a better understanding of how genetics influence the development of disease. And a personalized genetic profile could help doctors target the use of existing medications more effectively, Dr. Grabowski said.

        Outside the doctor's office, employers could use the genetic map to help determine which employees are more sensitive to factors in the environment, said Dr. Alvaro Puga, a professor of environmental health and molecular biology at the University of Cincinnati's Center for Environmental Genetics.

        Employers could use those results to design better protective strategies for their workers, Dr. Puga said. Or, on the other side of the coin, they could use those results to decide who does or doesn't get a job or health benefits.

        None of this is going to happen overnight, said Dr. David Millhorn, chairman of the department of molecular physiology at the University of Cincinnati.

        Mapping each gene is one thing. Figuring out the function of each gene is another, and it's a task that could take “several decades” to complete, Dr. Millhorn said.

        Dr. Carl Huether, a professor of biology at the University of Cincinnati, points out that consumers already see the impact of the Human Genome Project and related genetic research. Testing for genetic markers for breast cancer and other diseases is routine. DNA testing is com mon in law enforcement. And supermarkets are full of genetically engineered food.

        And Dr. Huether, Dr. Millhorn and Dr. Grabowski point out that genetic markers show only that a person might develop a particular disease. A person who tests positive for the BRCA1 or BRCA2 gene might never develop breast cancer. By the same token, a smoker who doesn't have the genetic marker for lung cancer could still develop the disease.

        An individual is a complex combination of genetic and environmental factors, and scientists don't know how those two work together to influence a life. “And the fact that we found the human genome sequence doesn't change that,” Dr. Huether said.

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