Buddy Check 7: Genetic tests offer opportunity for treatment before diagnosis

Published: Feb. 7, 2016 at 10:52 PM CST
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Jennifer Wall's day starts like most working mothers.

"Our morning's are a little hectic. We have a couple dogs running around, a couple kids running around," says Wall.

After a day at work, she picks up her two kids and comes home.

"Depending on the night, it means a little bit of cub scouts, swim lessons, dinosaur playing, power rangers," she explained.

Wall says she counts her blessings on days just like this, all because of the struggle her mom faced.

"My mom was diagnosed with breast cancer before she turned 40, then it metastasized to her brain and also her lungs, and she fought an amazing battle, but again, she died at age 48," Wall explained.

Jennifer decided to find out if she carried the cancer gene and went to the Medical Genetics Department at Marshfield Clinic in the fall of 2013.

Anna Cisler and Kyle Salsbery are genetic counselors.

"Cancer is a very common reason that we see patients for genetic counseling. With breast cancer specifically it's usually a personal or family history with breast cancer," said Cisler.

"Breast cancer itself is just a cancer that has a great support in the general population and in the general community of advocating for women to get their exams, and I think more genetics is becoming one of the voices in that advocating as well for genetic testing if you have a strong family history," Salsbery added.

Wall was positive for BRCA-1. Doctors say that's the best known gene mutation linked to breast cancer.

"I feel everything changed for me then," said Wall.

That's when she decided to go down the road of prevention, meaning a double mastectomy and a total hysterectomy.

"Even though people think oh you have the gene, that doesn't mean you're going to cancer. But when you're told you have an 87% chance of having breast cancer and a 44% chance of having ovarian cancer, you stop in your tracks," Wall said.

Jennifer says as difficult a decision as it was, she had the support of friends and family.

"It's her body. It's a decision she needs to live with, a decision she needs to make, so I stood back and said I was the supportive husband," said Daniel Wall.

"It was hard with the little ones knowing that they're watching you. You know, mom's going through surgery. Try to explain that I'm doing this, I'm okay. I'm doing this to stick around longer for you," Jennifer said.

Even though not every patient will choose to go down the path of preventative surgery based on genetic test results, thanks to the advancements of science, Salsbury says decisions on how to proceed can be made sooner.

"The ability that technology has has increased the speed we can get this information back has really allowed the information to be involved in medical decisions immediately following a diagnosis of breast cancer," Salsbery explained.

But for Jennifer, it was a no-brainer to do the tests and get the surgeries.

"I don't want to have my boys watch me suffer and go through the battle and watch me die like I watched my mom die."

She says having the tests done was an opportunity her mom never got. So family nights can continue for years to come.

"I look back at it and it was nothing more than a bump in the road."

Salsbery says around half of the patients who come into the Genetics Department are for cancer genetics tests. A majority of those are for breast cancer.

The tests cost between $1,000 and $2,000. Salsbery says most insurance companies will cover a chunk of that expense. Most people end up paying a couple hundred dollars out of pocket.

Cisler added that the genetic tests are 99% accurate when they show a mutation that stops a gene from working correctly.