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Buddy Check 3: Genetic testing aims to identify women at high risk for breast cancer before it ever strikes

Published: Sep. 3, 2021 at 5:05 PM CDT|Updated: Sep. 3, 2021 at 5:33 PM CDT
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SPRINGFIELD, Mo. (KY3) - Detecting breast cancer in its earliest stages has taken another big step forward here in the Ozarks.

For several years now, women in our area already diagnosed with breast cancer have had access to genetic testing to help them decide on treatment options.

Now, Mercy Hospital has a new way of reaching more people who are at high risk of breast cancer, even before any diagnosis has been made.

In July, nearly 3,000 people came through Mercy’s Breast Clinic for a mammogram. On average, about 2,000 people come through the clinic each month. Most of them are just following national guidelines to get their routine exams.

Up until recently, like most hospitals, Mercy’s way of looking for patients with a higher risk for breast cancer has been with paper surveys. Now technology has taken over that job. Before patients even go in for their routine mammogram, they get a visit from a little chat bot.

The virtual assistant is provided by the genetics company, Ambry. Partnering with Mercy, Ambry will digitally collect the patient information.

Mercy Genetic Counselor, Robin Troxell said, “We were really lucky. This was able to take the place of our paper surveys, and so this is then also able to easily be integrated into their medical record.”

By the time the patient arrives for a mammogram, Ambry’s software has calculated her risk for breast cancer.

Dr. John Bumberry, a surgeon at Mercy, says it’s a big advantage to know whether patients are high risk for breast cancer, so they can be offered the testing right then and there while they’re at the facility.

According to Troxell, genetic testing used to be more than $4,000 just for a couple of genes. Now many genes can be tested for a much lower cost.

One test can now look at more than 30 genes for any kind of mutation, not all of which are related to breast cancer.

Troxell says Mercy has had 24 individuals test positive for a gene mutation. Many of those are in genes that cause an increased risk for breast cancer, but some for other cancers, such as colon cancer or pancreatic cancer.

That’s valuable information for the patient and doctor making decisions on how to beat the odds of getting a cancer, even if a gene mutation is identified.

If a gene mutation is identified, that makes a patient at higher risk for breast cancer. Instead of just a yearly mammogram, the patient might opt for a yearly breast MRI, so that we are able to look at them twice a year, and in a couple of different ways.

According to Dr. Bumberry, “we’re going to find a lot more people out there who are high risk that didn’t realize it. So then they can take steps to either follow that closely, or prophylactic surgery is an option for ladies who are at really high risk level. And we can hopefully cut off a few of the cancers that we might see down the road that way, another good tool.”

Even though a person’s survey indicates a higher risk for breast cancer, some don’t meet the criteria for genetic testing.

If genetic testing is recommended, insurance many times covers the cost. At most patients have had an out of pocket payment of $250.

Again remember, signing up for Buddy Check 3 here at KY3.com will help you and a buddy to remember to follow all the guidelines to catch breast cancer in its earliest most treatable stage.

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