To Know or Not to Know? Genetic Testing Is Beneficial in Breast Cancer


Many people believe that genetic testing for cancer can only be beneficial for individuals with a strong family history of the disease, but that is not necessarily the case. This common myth — along with many others – were dispelled by Sue Friedman, DVM, during the CURE patient-focused session at the 36th Annual Miami Breast Cancer Conference.

“We hear a lot about misperceptions about genetic counseling and testing. We’d like to straighten those out,” said Friedman, who is the founder and executive director of FORCE (Facing Our Risk of Cancer Empowered).

In some cases, only 1 case of cancer is enough to warrant genetic testing. And while that testing can obviously be beneficial for the patient’s family members who may be at an increased risk, the results can also guide treatment strategies for the person with cancer — potentially leading to better outcomes.

“It is important to know that this can be passed on from men or women to their sons or their daughters. It doesn’t get passed on to everyone — a lot of it is like the roll of the dice,” Friedman said. “If you have a mutation, you may have family members who may also have a mutation.”

During her presentation, Friedman explained the basics of hereditary cancers, that they are caused by an inherited gene mutation that can be passed down by either the mother or the father. While the actual diagnosis may not come until much later in life, somebody with an inherited cancer mutation has it from birth.

About 10% of all breast cancer cases are linked to genetics, Friedman explained. More than half of the cancer-causing genetic mutations occur in the BRCA1 gene. The second most common is the BRCA2 mutation, and less than a quarter of genetic breast cancers are driven by other mutations, such as those in the ATM, BARD1, PTEN, and other genes.

“If you genetically tested everyone with breast cancer, the majority are going to be BRCA1 and BRCA2. Those are the genes that were studied a lot,” Friedman said. “Now that genetic testing has gotten better and more sophisticated, we have found other genes, too.”

According to current guidelines, the following patients with breast cancer should seek genetic testing and counseling:

  • patients with breast cancer who were diagnosed before the age of 50
  • patients with triple-negative breast cancer who are diagnosed under the age of 60
  • patients of any age who are diagnosed with breast cancer and are Ashkenazi Jewish
  • males of any age diagnosed with breast cancer
  • patients with bilateral or multiple diagnoses of breast cancer
  • individuals with a family history of ovarian, pancreatic, or metastatic prostate cancer
  • patients with HER2-negative breast cancer who are eligible for single-agent therapy with olaparib (Lynparza) or talozaparib (Talzenna)

While many patients may be eligible for genetic testing, they may have misconceptions about the cost that may prevent them from doing so. However, Friedman explained that the cost of genetic testing has decreased in recent years and is usually covered by insurance.

“The technology has improved, and the cost has gone down, and thanks to efforts — including those by FORCE and other organizations – it is covered by most insurances.”

Patients may also be worried about what the results may mean for them, as far as insurance and other protections go, but Friedman noted that there are laws that protect individuals against genetic discrimination.

“Back in 1999 when I started FORCE, those laws didn’t exist, and a lot of people were afraid that in knowing their genetic status, they would lose their insurance,” Friedman said, mentioning the Genetic Information Nondiscrimination Act (GINA) of 2008, which prevents insurance providers and employers from discriminating against someone based on their genetic status.

Insurance coverage and laws were not the only aspects of genetics that have changed recently. In fact, genetic testing itself has vastly improved in recent years and is now able to test for more mutations and give more precise results — something Friedman often reminds individuals of who state that they do not need additional testing because they have already undergone genetic testing.

“If you had testing any time before 2014, it’s worthwhile to check in with your genetic counselor or health care provider and ask if you should get additional testing,” she said. “Genetic testing has improved.”

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