Addressing concerns about genetic testing

May 13, 2010 3:16:55 PM PDT
Genetic testing is becoming more easily available, and if the newest controversy is settled, may be as simple as buying a test at the drug store.

Genetic advances are coming quickly and we're learning more and more about what's in our genes. But it's not easy information to process.

Genetic information can be a Pandora's box, so experts feel that testing is not for anyone who simply wants it, and very definitely reading the results should not be left to just anyone.

Genetics counselors have and should continue to play an important role in any test results.

After meeting with a genetics counselor and taking her advice, Cori Williams began getting mammograms earlier than she otherwise would have.

Her last mammogram detected an abnormality.

"What they found was very tiny, but by the time it would have formed into something that I could have felt - because of my age I wouldn't have had a mammogram, unless I actually felt something," Cori Williams said.

Cori had decided to get a genetic test with her doctor because of a strong family history of breast cancer.

The testing showed she had the mutated genes known as B-R-C-A 1 and 2, but Cori wasn't exactly sure what that meant until she met with the genetics counselor.

"We not only take into account that genetic test result, that one piece of paper, but also the family history and the medical history. So it's a much more complete evaluation and it's a much more complete risk assessment," Amy Sturm said.

Sturm is a genetic counselor at Ohio State University's Comprehensive Cancer Center.

She says even genetic tests at your doctor's office might offer some insight, but may not tell the whole story.

Even negative results if not read thoroughly could give women misinformation or unrealistic information.

"This person might still have a strong family history of breast cancer that they do need to be concerned about. That strong family history of breast cancer may just not be caused by BRCA 1 or BRCA 2," Sturm said.

Experts we spoke to oppose people getting their own tests.

Strum feels personal meetings are important for patients for whom testing is recommended.

"So that they get this information while they're sitting down with a support person, with the resources right in front of them so that they're able to answer and ask any question that they have," she said.

What's the first thing you do if you think you need a genetics test? Talk to your doctor about your family history. Knowing what is in your background can give doctors information about your risks and whether they are enough to require testing and what that will do.

This will be an ongoing challenge in our society, and the better informed a patient is, the better the odds of doing a genetics test for the right reasons, which are not the same for everyone.

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ON THE NET:

http://www.genome.gov/19016905


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