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Study Says Genetic Testing Field Needs More Experts

POSTED: 3:07 pm EDT March 19, 2008
UPDATED: 3:28 pm EDT March 19, 2008

The following is a transcript of a report by medical editor Marilyn Brooks that first aired March 19, 2008, on WTAE Channel 4 Action News at 5 p.m.


When scientists solved the riddle of the human genome, it opened the doors of discovery, and the advances continue to rapidly expand. But a new study finds health care workers are not ready to offer the services to patients.

Genetic testing can now help identify more than 1,000 genes that increase your risk for a number of chronic and often fatal diseases, but the study implies patients get the short end of the stick, because there are not enough experts around..

Diagnosed with breast cancer in her 20s, Selma Schimmel learned from genetic testing, that she carries the BRCA 1 gene mutation, which puts her at greater risk for ovarian cancer, a disease that took her mother's life.

As a precaution she decided to have her ovaries removed.

"Much to my shock, when I woke from surgery, I was told I already had ovarian cancer," she said.

Genetic testing can now help identify risk for a wide range of diseases. But a recent review of the field indicates there are not enough genetic specialists to respond to the current needs of patients. And some doctors don't know enough about genetic medicine to refer patients for testing or counseling.

"The primary care workforce and other health professionals lack knowledge about basic genetic concepts, and they lack confidence in their ability to provide these services," said study author Dr. Maren Scheuner.

The study is devoted to genetics and genomics. Basically, Scheuner is saying there is a definite need to train people to understand how best to provide genetic services, including testing and counseling.

Researchers analyzed eight years of data about genetic medicine for adults. They found many questions need to be answered before new genetic discoveries actually translate into clinical practice.

Schimmel said as genetic medicine continues to advance, she will continue to inform others that knowing family health history could change and even save lives.


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