Importance of genetic testing

By Chris Slone -

Paint it Pink is about compassion — compassion towards innocent victims of breast cancer. However, compassion doesn’t begin when someone is diagnosed with breast cancer; the compassion begins with breast-cancer awareness.

Vincent Scarpinato, the senior medical director department of surgery and breast surgeon at SOMC, created a Breast Cancer Compassion Fund approximately eight years ago.

The fund has various purposes. It is used to aid patients in certain areas, where insurance often isn’t an option — whether it’s gas money to make appointments, or babysitting money, or even money to buy wigs for women who have had chemotherapy treatments and have lost their hair; the Breast Cancer Compassion Fund is an outlet to lesson the burden on patients.

However, what about women who haven’t even been diagnosed with breast cancer? Yes, the fund was created to assist them as well.

If women have a family history of breast or ovarian cancer — their mother, sister or even daughter has had breast or ovarian cancer, they have the ability to get genetic testing done through SOMC. The testing is completely free for the individual as the Breast Cancer Compassion Fund often fits the bill.

“So the genetic counseling is free for women through the breast cancer compassion fund. We outsource that counseling to Ohio Health Riverside System. We pay them to do it, but it’s free for the patient,” Scarpinato said.

The genetic counselors will test the patient and if something is a miss, they will order the physician to draw a blood test. At that point, the physician will begin looking at the patient’s DNA and then they’ll begin talking about genetic mutations, if the patient tests positive. The BRCA 1 and BRCA 2 genes are the most common genetic mutations, but there are some less common genetic mutations, such as PALB 2.

Angelina Jolie, the Hollywood actress, went through genetic testing. After her mother suffered from breast cancer and tested positive for the BRCA gene, Jolie was tested and she tested positive for the gene.

According to Scarpinato, if someone tests positive for the BRCA gene, they have an 84 percent chance of developing breast cancer by the time they are 70 years old.

“It’s such a high level that people will often consider doing what Angelina Jolie did, which was to have prophylactic surgery to remove the breast and do an immediate reconstruction of the breast, and they can be incredibly natural,” Scarpinato said. “If you’ve seen any pictures of Angelina Jolie over the last couple of years, she’s had both of her breasts removed and reconstructed all at the same time.”

With the BRCA gene, it also predicts the risk for ovarian cancer. If someone tests positive for the gene, they have approximately a 47 percent chance of developing ovarian cancer by the time they are 70.

According to Scarpinato, who has been practicing at SOMC for the last decade, most women choose prophylactic surgery if they have one of the genetic mutations.

However, the vast majority of women, even the ones with breast and ovarian cancer, don’t have a genetic gene. Approximately 85 percent of them have, as a matter of fact.

According to Scarpinato, there are typically two types of patients. There’s the woman with the breast cancer at the young age. She gets tested and the test comes back positive.

“Those women, almost always, choose at the time of the breast-cancer surgery to have the prophylactic surgery on the opposite side,” Scarpinato said.

Then, depending on their age, they may also choose prophylactic removal of their ovaries, especially if they’re post menopausal.

“If they are over 50, their ovaries aren’t working anymore, there’s no downside,” Scarpinato said. “And that’s an easy operation.”

But then, there’s the woman whose mother might have had breast cancer and she tested positive for a genetic gene. Then the woman gets tested and she has the gene.

“That’s a lot harder decision for women to make,” Scarpinato said. “To have prophylactic surgery when they don’t have cancer, especially because we’re talking about removing both breast. So, if those women chose not to have surgery or if they chose early on to be monitored, we do watch them closer.”

For the women that choose to be monitored, they receive an MRI and a mammogram once a year, staggered six months apart. Meaning, every six months they are being examined and receiving a test.

“We tend to be more proactive when there’s any spot on the mammogram,” Scarpinato said. “We biopsy pretty much anything that looks new, even if we’re think it’s probably OK.

“But when you’ve got that gene that say you have an 84 percent chance of having breast cancer, that’s so high, most women are very agreeable to having biopsies done to prove it’s not cancer and I have a handful of women here that chose to be monitored. And that’s fine, it’s the women’s choice.”

Scarpinato admitted there’s a big difference between a 22-year-old female and a 60-year-old female.

“There’s a big difference,” Scarpinato said. “We try to be very empathetic about it. That’s why the genetic counseling is so good, you meet with a geneticist that really kind of helps you make some of these decisions and gives you some of the statistics. And then with your surgeon and your gynecologist, they try to make the best decision for the patient.

“If somebody gets tested in their early 20s, we don’t usually take the ovaries out that early. We’ll just monitor them a little closer. We’ll make sure they finish having their family. Most women are doing the removal of their ovaries a little later. We try not to do it so early, because there is a benefit to having all that estrogen, of course, at a young age.”

By Chris Slone

Reach Chris Slone at 740-353-3101, ext 1927, or on Twitter @crslone.

Reach Chris Slone at 740-353-3101, ext 1927, or on Twitter @crslone.