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What's hidden in the family

Knowing ancestors' medical histories can help track risks for developing an inherited disease

Tuesday, February 17, 1998

By Sharon Voas, Post-Gazette Staff Writer

Every family has a few genetic clunkers.

Maybe there's a genetic tendency toward certain types of cancer, heart disease, Alzheimer's disease, depression or alcoholism. Maybe a nasty disorder that hides in carriers, such as Tay-Sachs or Gaucher disease, lies submerged in the gene pool like an alligator waiting to attack.

People often don't know what might shake out of their family trees. Some genetic glitches emerge only when a rare combination of genetic flaws occur simultaneously. Some pass only from a mother with no symptoms to a son, or occur only when both parents have the same hidden gene.

A person may divine his potential future, and that of his children, by finding out what diseases have afflicted relatives, and charting a medical family tree.

Creating a family medical tree can free a person from fears about diseases he's not likely to have or warn him about risks in his children's genetic inheritance. Tracing a medical genealogy may save a person's life by alerting him to inherited tendencies to diseases so he can reduce his risk.

"Every person can find something in their family history that is a clue to early diagnosis that will hopefully lead to life-saving or life-improving interventions," said Dr. John Mulvihill, University of Pittsburgh School of Medicine professor of human genetics and clinical geneticist, who uses family medical trees with patients.

Genetic flaws usually only raise the odds of developing a disease, like increasing the risk of getting some cancers by 5 percent to 10 percent. Many diseases with a genetic link develop from an interaction between genetic susceptibility and a person's lifestyle and environmental exposures.

For example, finding a genetic predisposition to breast cancer may prompt a woman to be screened more often so if she does develop cancer it's detected at an early stage when it's still curable.

If the family tree reveals a person has a genetic time bomb for heart disease, a person may prevent the environmental trigger ever setting it off. He can avoid heart attacks and strokes by following a low-fat diet and exercising or taking cholesterol-lowering drugs.

"One of the best genetic tests is to take a family history," Mulvihill said.

"People don't usually come in to us with a family tree in hand and ask, 'Now what?' " he said. "Usually they come in saying, 'Everybody in my family has cancer, what are my chances of developing cancer?' And we help them develop a family tree.

"We see patients who come in thinking they are at risk of cancer and, after we work with them, they're relieved to find out they aren't."

Mulvihill said it's a good idea for people to develop their own family medical trees, or pedigrees, as the professionals call them, because they reveal so much.

"It's one of the first tools of medical evaluation that gets dropped in a busy physician's schedule," he said. But "once a person has pulled together a family tree, he generally should see a genetic counselor to help interpret it."

People who chart their own pedigrees without getting an interpretation from a genetic counselor run the risk of making themselves and their families anxious without reason because they don't have the medical knowledge to interpret it.

For instance, people usually don't know that whatever organ a cancer starts in, it's still a cancer of that organ even as it spreads to others . So the relatives may say Aunt Gertrude died of breast cancer, when actually it was lung cancer that spread to her breasts. Or there could be a history of hand tremors in males that could indicate a variety of neurological diseases that only a professional could interpret.

In the last few years, headlines announcing that researchers have discovered diseases and behavioral tendencies that are linked to genes have become increasingly common. Scientists' ability to read your genes and forecast your potential is accelerating.

And that makes knowing your own genetic pedigree more valuable.


Here are genetics programs that work with family medical trees:

Allegheny General Hospital's Center for Medical Genetics.412-359-6388.

UPMC Genetics Education and Counseling Program. 800-640-GENE (640-4363). .

To obtain copies of death certificates, write to:

Pennsylvania Department of Health

Division of Vital Records

P.O. Box 1528, New Castle, PA 16103

Or call 724-656-3100.

On the Internet, conducting a search under your last name may uncover relatives. Doing a search under "genealogical" will pull up lists of genealogical societies.

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