Genetic tests offer early warnings for disease, for better or worse

Posted: Published on May 26th, 2013

This post was added by Dr Simmons

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.

Its the best pre-emptive strike that I have, Dansky, 40, said of her decision to undergo a complete hysterectomy in addition to bi-lateral 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 isnt 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 for 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.

Medical laboratory testing for genetic conditions can be expensive typically running about $3,000 for BRCA1. Because the disease is so expensive to treat and can be fatal, the cost for gene testing is often covered by insurance for women who have a strong family history of breast cancer and have been referred for testing by their doctors.

As the first company to isolate the individual BRCA1 and 2 genes, Myriad Genetics holds a patent for this test. The Salt Lake City-based company is facing a lawsuit over the gene patent, a case that is now before the U.S. Supreme Court. A ruling is expected in June.

Individuals seeking more general clues to their genetic profiles 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 Parkinsons 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.

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Genetic tests offer early warnings for disease, for better or worse

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