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Health Team

Home DNA kits can confuse

Posted October 15, 2010

A positive test for BRACA-1, a gene mutation linked to elevated breast cancer risk, led Jill Steinberg to have a preemptive double mastectomy.

The presence of pink is a signal that October is Breast Cancer Awareness month. For some who worry about the chance of developing the disease, home DNA test kits can be a lifesaver.

But the kits have come under government scrutiny recently. Experts are concerned that the results could be misinterpreted. There's no government regulation of this new industry.

A positive test for BRACA-1, a gene mutation linked to elevated breast cancer risk, led Jill Steinberg to have radical surgery. She got both breasts removed as a preventative measure.

“It's that or cancer,” she said. “It's a small price to pay.”

Steinberg didn't learn about the gene from her doctors. She doesn't have a strong family history of breast cancer, so they didn't recommend genetic testing. Instead, her husband bought home DNA test kits after reading about them on Twitter.

“I thought it would be more of a fun thing to do,” he said.

Jon Steinberg got the results by e-mail. “I clicked on it. I saw the results that she's a trait carrier and my heart sort of sunk,” he said.

After the learning the news, the Steinbergs got genetic counseling, double-checked the accuracy and developed a plan with doctors.

Doctors urge caution for users of DNA tests Doctors urge caution for users of DNA tests

Experts worry that not everyone can afford to do that.

“If they get this information without knowing what their choices are, it can be a really devastating blow,” said Dr. Freya Schnabel of the NYU Langone Medical Center.

“If you're getting a genetic test, I think you need to be prepared for the results,” Jill Steinberg said.

The company that makes the kit Jill used plans to work with the FDA to make sure the results are clear and accurate.

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  • HowManyOunces Oct 22, 2010

    "just be careful friends. i can see this somehow getting into the hands of the insurance companies and them refusing to take you becuase you have a "genetic defect" or something crazy like that."

    Chances are that they would urge you to have the double masectomy to basically erradicate your chances of developing the cancer. It's a lot cheaper for them to pay for that and the cosmetic surgery than to pay for chemo and radiation.

  • Keepin_it_real_in_NC Oct 19, 2010

    This is why we have the Maury Show.

  • countrystong Oct 19, 2010

    There is a problem with this test. I had stage 3 BC last year and tested negative for this gene. I would have had a total false hope for never having it, and it would have blown my mind even more then it did when I got the diagnoses.

  • FromClayton Oct 19, 2010

    just be careful friends. i can see this somehow getting into the hands of the insurance companies and them refusing to take you becuase you have a "genetic defect" or something crazy like that.