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At-home genetic test can determine if women are at risk for breast cancer

Genetic testing to determine whether women have a gene mutation that could warn of a higher than usual risk for breast cancer used to cost thousands of dollars. Now, there's an at-home version of the test being offered for a fraction of the cost.

"I'm the eighth woman in my family to be diagnosed," said Jenn Nudelman, a breast cancer survivor.

When Nudelman was diagnosed with breast cancer, she decided to have a double mastectomy. She also decided to get tested for the BRCA gene mutation, which increases a woman's chance of getting breast cancer. That test showed she didn't have the mutation.

"The way my breast surgeon communicated it to me, she said. "It's likely that your family has a mutation that we just haven't discovered yet," Nudelman said.


That comment made Nudelman more interested in ads she saw on Facebook for an at-home genetic tests, offered by a company called Color Genomics. The company tests for BRCA mutations as well as other genes that increase the risk of breast and other cancers. The kit arrives by mail, and you put your saliva into an enclosed tube, which is then mailed back to the company.

Dr. Mary Claire King is a professor at the University of Washington, and discovered the BRCA-1 gene in 1990. She sent 400 of her trickiest DNA samples to Color Genomics to see if they could find mutations.

"They sent back 400 answers. They got every single one correct," King said.

King is now an unpaid adviser for the company. She said if the tests find any mutations that need to be addressed immediately, one of Color Genomics genetic counselors calls that person and walks them through the results.

"I think some people might expect the results to come back and come back clear as day as a pregnancy test. And they're not, especially if you're looking at a larger gene panel," said King.

King said she believes every woman older than 30 should get a test, including people with no family history of breast cancer.

"The most common misconception about testing for inherited risk of breast cancer is that only women with a severe family history of breast cancer need to worry about it. Because men have genes, too, and a mutation that increases one's chances of breast or ovarian cancer can be passed from a father who will remain unaffected as frequently as from a mother," King said.

AS A CANCER SURVIVOR I love that science has progressed enough that we can determine if we are at higher risk of getting...

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Nudelman said she planned to take the Color Genomics test because she said she wants to know if other genes pose a cancer risk for her or her family.

"The test doesn't give you all the answers. The test gives you the information to get more answers," Nudelman said.

Experts suggest discussing one's thoughts with a doctor before taking any test. The National Human Genome Research Institute has said a positive result could have emotional consequences, but it does not necessarily mean there's a cancer risk, so it's best to have your doctor involved.