Genetics Testing for Cancer Advances at St. Elizabeth

YOUNGSTOWN, Ohio — Patients who are treated for breast or ovarian cancer understand the emotional and physical tolls the disease takes. Even when such treatment is successful, an underlying anxiety persists about whether the cancer will recur.

Dr. Ayla Kessler, an oncologist at St. Elizabeth Youngstown Hospital, wants to make sure those chances are as slim as possible, especially for those who have a family history of cancer.

The answer is a genetics-sequencing test called MyRisk, which Kessler recommends for those who have a strong genetic predisposition. “It’s a next-generation sequencing test developed by Myriad Genetics,” a company based in Salt Lake City that was the first to provide genomic testing in 1996.

The test analyzes a panel of 25 genes in blood drawn from that patient, genes implicated in eight types of cancer, Kessler says. Among them are breast, ovarian, pancreatic, prostate, gastric, colon, endometrial and melanoma cancers.

Earlier tests for those with a high risk of hereditary cancer were limited to assessing just two genes, BRCA 1 and BRCA 2, Kessler says. The MyRisk panel expands this test to 25 genes that scientists have identified as posing an elevated risk in causing these cancers. “It’s much more of an enhanced test. The earlier ones were not as specific,” Kessler says.

By using this methodology, oncologists can analyze more genes with mutations that pose a hereditary risk in developing new cancers, the oncologist says. “We are able to identify up to 100% more mutated genes that are implicated in hereditary cancers than we otherwise [couldn’t] identify before this became available.”

Such testing is important because the results could dramatically affect the course of treatment for a patient genetically predisposed to cancer, Kessler says. For example, a young breast cancer patient who tests negative for BRCA 1 and BRCA 2 – meaning there’s no evidence of hereditary risk – would in the past have forgone risk-reducing surgery.

However, these tests don’t take into account the additional genes that might be a factor in the patient’s susceptibility to cancer, Kessler says.

“With this panel, we’re able to identify other genes that you can see in up to 40% of patients that have negative BRCA 1 and 2,” Kessler says. “This will impact your treatment tremendously. Instead of just removing the lump and treating the patient, you can tell them that there is an increased risk of developing a new breast cancer in the future.” In this case, risk-reducing surgery, such as a double mastectomy, would be recommended to eliminate the recurrence of new cancers.

“We’re impacting patients’ lives tremendously with this panel,” Kessler says. “I was able to find in one in the 15 patients I’ve tested a clinically significant mutation in a gene because of this panel. It allowed us to improve that patient’s survival by telling her that if your ovaries are taken out now, you will not have to worry about developing ovarian cancer, or other cancers.”

Genetic testing has been a work in progress over the last two decades, Kessler says. Still, such testing is yet to gain widespread acceptance in the Mahoning Valley.

“The uptake and knowledge by primary-care physicians and oncologists about the need for testing has not been great,” she says.

St. Elizabeth’s was one of the pilot sites in northeastern Ohio for the MyRisk panel, Kessler says. The test was formally launched in May at the annual meeting in Chicago of the American Society of Clinical Oncology.

Should a patient test positive for a “highly penetrant” mutation, their siblings, offspring, and their first-, second- and third-degree relatives must be notified of the findings, Kessler notes. “You have a 50-50 chance of having that gene, say, if you’re a sister or an offspring of a patient,” she says.

Ron Rogers, a spokesman for Myriad Genetics, says genetic panel testing is part of an overall trend toward a more personal approach toward health care. “That’s the megatrend,” he says. “It’s a shift from the one-size-fits-all to more personalized medicine.”

The MyRisk test was launched less than a year ago, he says. Those 25 genes were selected – the human body contains 20,000 genes – because of the scientific data and research that identify them as active agents in the eight cancers identified.

“Through this, you’re tested one time,” he explains. “And if there is a mutation, you can talk to the doctor and do something about it.”

Not everyone is eligible for a MyRisk test. “To qualify, you have to be affected by cancer at a young age, or have a strong family history of cancer,” Rogers says.

Hereditary factors, he continues, account for less than 15% of cancers, so “It’s not a test for everybody.”

Genetic testing for cancer received substantial media attention when actress Angelina Jolie recorded positive for BRCA genes for both breast and ovarian cancer.

“It showed that she had an 87% chance of developing breast cancer and a 40% chance to contract ovarian cancer,” Rogers says. “She took steps to reduce those risks through a double mastectomy and having her ovaries removed. Her risk decreased to 5%.”

But surgery isn’t the only option, Rogers notes.

“It depends on the patient’s circumstances,” he says. “Some may require increased surveillance and monitoring if they don’t have any mutations but have a strong family history.”

In addition, genomic testing for breast cancer tumors has greatly affected the course of treatments administered to patients, St. E’s Kessler says. In this case, the genome of the tumor tissue, not the human DNA, is tested and identified.

“We can look at your particular cancer and tell you it’s different from others because of its gene makeup,” she says. “So, I’m not going to be treating you the same way as someone else with a similar-size tumor.”

The advantage is that oncologists can examine a patient’s particular cancer and determine how aggressive it is based on reading the genes, Kessler says. “The nice thing about this test is that it enabled us to spare a lot of patients chemotherapy that we would typically give to every comer based on the size of their tumor and presence of lymph nodes,“ she says. “We’re able now to individualize treatment to your tumor.”

Some 30% of patients didn’t need chemotherapy because of this test. “That was a breakthrough, Kessler says.

Primary care physicians still face a learning curve related to genetic testing. “It’s just like any other advance in subspecialties,” Kessler says. As an oncologist, she sees patients after they’ve been diagnosed with cancer.

Recommendations for the testing “has to come from the family doctor,” Kessler says. “If you’re concerned about your family history, ask your primary doctor to refer you to a genetic counselor.”

Pictured: Kathleen Spalla, a breast imaging specialist, and Jill Townsend, a breast care navigator, demonstrate how patients undergo molecular breast imaging at Mercy Health’s Joanie Abdu Comprehensive Breast Care Center in Youngstown.

Copyright 2024 The Business Journal, Youngstown, Ohio.