Genetic testing for breast cancer now part of new guidelines

By: LIZ BONIS

From: wchstv.com

New guidelines for breast cancer suggest every woman diagnosed with this disease should have genetic testing.

One breast cancer survivor explains why.

Stephanie McElhaney said even after she discovered something unusual on her body, she never imagined it was breast cancer.

“I had a painful lump. It just popped up overnight. Honestly, cancer was so far off my radar, we didn’t have cancer in my family,” McElhaney said.

But as soon as Stephanie was diagnosed with Metaplastic Breast Cancer, the doctor knew it was serious.

“It’s a very rare type of cancer. It typically is more aggressive,” said Dr. Brooke Phillips, a Hematology Oncologist.

Phillips recommended Stephanie see a genetic counselor.

“So, I did my blood test for genetics and it came back that I am BRACA 1 positive,” Stephanie said.

The BRACA mutation is linked to a higher risk for breast cancer.

It used to be that only women with a direct history of breast cancer in their family were tested for it.

Now, new guidelines show every woman diagnosed with breast cancer should have genetic testing, and some with a family history of other cancers too.

It is all based on a recent study.

“Where they looked at patients that had a diagnosis of breast cancer and they compared patients that had family history, versus those that did not, and what we found is the percentage of patients that ended up having a genetic mutation was exactly the same,” Phillips said.

What’s more is that there may be other types of cancer in your family linked to this same gene mutation.

Phillips said being tested helps you know how aggressively you should be treated and whether others in your family are at risk.

“For instance, with the BRACA mutation we know breast cancer, prostate cancer, melanoma, they kind of all follow together, and so we are finding sort of the importance of genetic testing in all our patients with breast cancer.”

But finding out she had the BRACA mutation led to additional treatments for Stephanie that so far have been very successful.

“We do have clear margins, so I am completely thankful for that,” Stephanie said.

Her message now — with these new guidelines every woman diagnosed should have genetic testing.

“Even if breast cancer is not on your radar, and you don’t have a family history of it, it is something that you should be concerned with. You just never know,” Stephanie said.

In most cases, genetic testing is covered by medical insurance plans. You can ask about testing, even before a diagnosis, if some of these other cancers run in your family.