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Genetics discoveries could lead to disease prediction

Researcher October 14, 1997
Web posted at: 11:09 p.m. EDT (0309 GMT)

(CNN) -- As researchers rapidly uncover genetic clues into the role genes play in our health, your doctors one day may be able to read your full genetic profile and detect disease before it starts.

This week's Journal of the American Medical Association (JAMA) reveals a glimpse of some of the latest genetic discoveries. The pioneering studies are the result of the Human Genome Project, a 15-year international effort to map all genes now in its seventh year.

"The human genome initiative is an initiative whose goal is to define resources that can be used in the study of human genetic disease," said Dr. Margaret Pericak-Vance of the Duke University Medical Center. "It's had a tremendous impact on genetic research to date." icon (170K/15 sec. AIFF or WAV sound)

CNN's Dr. Steve Salvatore reports
icon 2 min., 29 sec. VXtreme streaming video

Currently, there are more than 450 tests for human genetic disorders, and that number is expected to rise dramatically by the conclusion of the project.

"What genetic testing will tell you is whether you carry susceptibility or are predisposed," said Dr. Donna Shattuck-Eidens of Myriad Genetics Inc., a genetic testing company involved in the project.

She stressed it will not diagnose cancer the way a mammogram will detect cancer. "What genetic testing allows you to do is know what your risk is, then make lifestyle decision based on that risk."

Researchers already know that 5 to 10 percent of breast cancer is due to an altered copy of one of two genes known as BRCA1 and BRCA2. That knowledge might help physicians better determine a patient's risk for developing breast cancer.

There are also genetic advances in Alzheimer's disease.

Chromosome diagram

"We've learned more in the past decade about Alzheimer's disease than we learned in the past century since it was first described," said Pericak-Vance.

New knowledge about Alzheimer's is reported in the same issue of JAMA. The study reports that the gene that makes certain people susceptible to the disease after age 60 probably hides within chromosome 12, one of the string-like structures that carry genes.

Genetic findings like that can lead to new treatments, screening tests, and a better understanding of why some people get certain types of diseases and why some don't.

Health professionals are concerned about how to integrate this growing body of knowledge into clinical practice. For example, a recent study of colon cancer testing revealed nearly one-third of physicians who delivered DNA test results did not fully understand their meaning.

To correct that, Pericak-Vance predicts a growth in education of physicians from the medical school level through practicing primary care physicians. "The diseases we're looking at now, in which genetics will play a role, are the common diseases," she said.

Medical Correspondent Dr. Steve Salvatore contributed to this report.

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