Since actress Angelina Jolie spurred a spike in genetic testing in 2013, health systems have seen a steady increase in referrals and tests for the BRCA gene and other hereditary cancers.
Helping to drive the increase is new information about such diseases and the genes involved, as well as increased awareness, said Terri Blase, a certified genetic counselor with the University of Nebraska Medical Center.
Advances in testing also mean that medical professionals aren’t just looking for one genetic mutation when they’re screening patients with a personal or family history of cancer, she said. Based on that history, they’re typically testing for a number of potential mutations that may be associated with the cancer — or cancers — in question.
While Jolie had a mutation in a gene called BRCA1, mutations in other genes also can increase the risk of breast cancer.
Currently, there are 11 different genes that can put a family at increased risk of developing breast cancer, as well as other cancers, said Kate Hunley, a nurse practitioner with the Lakeside Breast Health Center at Lakeside Hospital.
The good news is that screening can identify a carrier of a potentially harmful gene before she develops a cancer, she said.
It hasn’t always been that way.
Research agencies scoffed when Dr. Henry Lynch, founder and director of Creighton University’s Center for Hereditary Cancer, proposed in the late 1960s that cancers could be inherited, not just triggered by behavioral or environmental factors.
Lynch traced a number of hereditary cancer syndromes, including the colon cancer complex now known as Lynch syndrome.
Blase said each comes with its own degree of risk and its own set of guidelines for screening and medical management. Genetic counselors can explain the implications for patients and other family members. Some genes associated with hereditary breast cancer, like BRCA1 and BRCA2, also are associated with increased risk of some other cancers.
“However, just because you have a mutation in one of these genes doesn’t mean you’ll get cancer,” Blase said. “It just increases the probability.”
Such cases are managed differently from sporadic breast cancers, which still make up the majority of breast cancers.
When it comes to testing, patients may request it themselves or doctors may refer them.
Practitioners at local health systems generally screen women for a personal and family history of cancers when they have mammograms. Those with such histories generally are referred for further evaluation and testing if indicated.
Hunley said the Lakeside Breast Health Center in July 2017 began giving women a custom questionnaire to evaluate their family histories. If those histories raise concerns, the staff offers education and the option of genetic testing for hereditary cancer syndromes, usually as part of the same visit.
Since the start of the program, the clinic has tested 561 patients, Hunley said. Of those, they’ve found 50 who carried genetic mutations that put their families at high risk of developing cancers.
Of the total tested, 181 did not carry genetic mutations but were considered high-risk due to their significant family history of cancer that’s not associated with a known mutation. Such patients still may require medical management, such as additional screening.
During the year before the program launched, the clinic tested 110 patients and found nine positive for genetic mutations, she said.
Methodist Estabrook Cancer Center also has seen an increase in testing. In 2013, the center tallied 171 genetic tests for all types of cancer. The numbers have trended generally upward, with 321 tests in 2017. Through September, the center performed 267 tests.
The center gets a lot of referrals from obstetricians and primary care doctors. Once patients get results, they meet with genetic counselors who can walk them through the findings and recommend next steps.