Coming soon: Genetic testing for Pennsylvanians at risk for breast cancer

When Pat Halpin-Murphy was diagnosed with Stage 3 breast cancer in the late 1980s, she endured a highly toxic chemotherapy. As trying as the ordeal was, though, she made it to the significant 5-year survival marker. 

Now, more than three decades later, Halpin-Murphy continues to lead the PA Breast Cancer Coalition, a nonprofit she started in 1993. 

“I felt I’d been spared for a reason, and that is to help other women and their families,” Halpin-Murphy said.

She is grateful that, years after her illness, more women are surviving breast cancer: According to the National Cancer Institute, a division of the National Institutes of Health, the 5-year relative survival rate for breast cancer was 90.8 percent of patients between 2013 and 2019, the most recent data available. In the 1970s, the 5-year rate ranged from about 75-76 percent; in the 80s, the average was about 76 to 86 percent. 

And soon, Pennsylvanians who have a family history of breast cancer can access genetic testing at no cost for an inherited gene mutation that increases the likelihood of breast cancer. In May, the state legislature passed the bill Act 1, which goes into effect on January 1. 

The law requires that people insured under Pennsylvania law be given these tests – which detect the BRCA1 and BRCA2 genes, which also signal a susceptibility to ovarian cancer – if they have a first-degree relative, like a mother or sister, who has had breast cancer. 

Patients should note that breast cancer also can come from a father’s side of the family – like a paternal grandmother, Halpin-Murphy said. Breast cancer in men accounts for less than 1 percent of cases.

Pennsylvania is the first known state to offer genetic testing to detect the BRCA1 and BRCA2 genes, at no charge to patients.

Before Act 1 becomes law, insurers, if they even cover genetic testing, can still charge patients some of the costs. People can shell out more than $4,000 for the testing, which includes an MRI, she said. The new law eliminates all costs for the patient, including co-pays, deductibles, and co-insurance.

“This new legislation that was passed and signed by the governor is really groundbreaking and lifesaving,” Halpin-Murphy said. “These screening tests best position women to know what their breast health is so they can do what’s necessary in their situation. … Now with this new legislation, once it goes into effect, a woman in her situation will certainly be able to get the genetic test at no cost.

“We know what needs to be done and, fortunately, we have governors and legislators who are responding,” she said.

Genetic testing is part of a broader approach in the medical community known as precision medicine – a personalized approach to addressing an individual’s health by examining their genetics and environment. This can involve genetic testing and other measures to help assess risk or a likely outcome.

The cancer community’s mantra “Early detection saves lives” – in the case of breast cancer, via mammograms and breast exams – is true, Halpin-Murphy said. Genetic testing can become another part of early detection by alerting people who have a higher likelihood of getting breast cancer because of mutation of the BRCA1 and BRCA2 genes, which function as tumor suppressors. When these genes work properly, they help keep breast, ovarian, and other types of cells from growing and dividing too rapidly, according to the Centers for Disease Control and Prevention. When a mutation occurs, the genes don’t work properly, and a person has a higher risk of certain types of cancer.

For those who test positive for a genetic mutation, the response varies, Halpin-Murphy said. Some women, like actress Angelina Jolie, choose to undergo a preventive double mastectomy if their chances of getting cancer are high. Others may just be extra vigilant in monitoring breast health.

Women who suspect they are at risk for BRCA gene mutations should talk to their providers about ordering genetic testing, Halpin-Murphy said. But, it’s important to note that testing negative does not necessarily mean that breast cancer is unlikely. Most women in the general population do not carry the mutation, and fewer than 10 percent of breast cancer cases involve BRCA. Some groups, like Ashkenazi Jewish women, have the mutation more often: 1 in 40 has a BRCA mutation.

Nothing in particular prevents breast cancer, Halpin-Murphy said, which makes screening even more important – even for people who already have had breast cancer, as having the BRCA mutation can pass on to children.

“There’s no pill you can take that will prevent breast cancer,” she said. “But if you are screened early and they find breast cancer, then you can get treatments that are less damaging, have fewer side effects, and chances for survival are longer. … And the best things we can do is get a yearly mammogram, and think about whether you have a family history and should get tested.”

Genetic testing is a rapidly growing field. 

To learn more about the ways that genetic testing is changing health care options, listen to this episode of the Good Health, Better World podcast, with Carrie Whitcher, chief quality officer and vice president of quality performance at UPMC Health Plan; and Dr. Bob Edwards, chair of the department of ob-gyn and reproductive services at the University of Pittsburgh, and the chief medical officer of UPMC’s Community and Ambulatory Services Division. In this conversation, they delve into preventive care for women as a form of self-care.