Study finds genetic testing for breast cancer is outdated


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    Brighton, N.Y. – Jessica Salamone, ScM, CGC, has seen genetic testing change and save lives. Salamone is the Director of Genetics Counseling at Elizabeth Wende Breast Center.

    “While they're called the breast cancer genes, they are so much wider than that, so much broader than that. That it is important,” Salamone said.

    According to the Journal of Clinical Oncology, the guidelines on who should get genetic testing dates back decades, when the focus was on two well-known breast cancer gene mutations. Today, there are dozens of other genes beyond BRCA1 and BRCA2 associated with breast cancer.

    “If you only use outdated complex guidelines that say these are the woman who should seek genetic testing, you're actually going to miss a number of women who have these genetic mutations and are there by at high risk for cancers moving forward,” said Salamone. “There are genes for colon, uterine, ovarian, skin, and pancreatic. And there are more things we can be doing for those patients moving forward, in terms of screening and when to begin."

    When guidelines are outdated, patients who could benefit from these tests don’t know they exist. Or, if they do, insurance won’t necessarily cover them.

    “It still shocks me today the number of patients that will sit here after devastating years of cancer and they said that, 'I never even knew that something like this existed,'” Salamone said.

    She added, over the years, it has gotten cheaper to pay out of pocket for genetic testing and patients can get it through a clinical provider, primary care physician or an OBGYN.

    “That has proved a very nice way to support my patients desire to move forward. But I think what is going to happen is the guidelines around insurance coverage need to widen and more patients need to have access,” said Salamone. “I do think that something will change, I don't know how quickly but I do.”

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