Genetic tests offer both opportunites and dilemmas

Posted: June 8, 2013 at 6:41 am

Marla Dansky is scheduled for two rounds of surgery this summer, shortly after she completes chemotherapy treatments for a tumor in her left breast.

Her first operation at Duke Cancer Center will remove both breasts. A second will take out her ovaries and uterus, which are not cancerous but are likely to develop the disease, based on genetic tests that show she carries a faulty BRCA1 gene.

"It's the best pre-emptive strike that I have," Dansky, 40, said of her decision to undergo a complete hysterectomy in addition to bilateral breast surgery. "My plan is to 'do cancer' once, and do it right the first time."

The strong link between the BRCA1 gene and cancer, as well as the option to sidestep much of the risk through elective surgery, grabbed headlines recently when actress Angelina Jolie made public her decision to undergo a double mastectomy.

But the procedure isn't only available to movie stars. More than a third of women who test positive for BRCA1 are choosing preventative surgeries -- largely because the gene mutation raises the typical 10 percent risk of female breast cancer to something closer to 80 percent, according to the National Cancer Institute.

Screening for breast cancer is now one of more than 1,000 genetic tests available to evaluate health risks. Such tests offer unprecedented opportunities to take steps to avoid serious illness in many cases, but they pose dilemmas for patients facing a high risk for diseases with no known cure.

Individuals seeking more general clues to their genetic profiles, for example, are turning to direct-to-consumer testing companies. A number of companies offer to scan blood or saliva samples for indications of risk for common diseases such as macular degeneration or diabetes, as well as more serious conditions such as cancer or Parkinson's disease.

One such testing company, the Web-based 23andMe, evaluates genetic indicators for health, ancestry and other traits using saliva samples sent in by customers, said company spokeswoman Catherine Afarian.

In 2007, when the testing was first offered, the service produced 14 reports for $999. Now more than 240 reports are available for $99, Afarian said.

"It's a reflection of the amount of research that is being done in the field of genetics," she said.

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Genetic tests offer both opportunites and dilemmas

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