Dr Nadine Tung Discusses When to Refer Patients for Germline Testing

The bar for who should get genetic testing for breast cancer keeps getting lowered, and oncologists have to keep informed about which results should trigger a referral for germline testing, said Nadine Tung, MD, director, Cancer Risk and Prevention Program, Beth Israel Deaconess Medical Center, and associate professor, medicine, Harvard Medical School.

Transcript

How can oncologists determine which patients should have germline testing for hereditary breast cancer?

So, I think when taking care of patients with breast cancer, it is really important to understand which patients have an inherited risk to breast cancer. We've tested for BRCA 1 and 2 mutations for a long time. Now, there are other genes that we know about both with high risk and moderate risk.

It's important to know which of our patients have an inherited mutation, because it informs us about what other cancers they may be at risk for in the future. It also informs us for their relatives who might be at risk and should have different prevention and screening strategies. But increasingly, it's also informing us about what's the optimal treatment to treat that particular breast cancer, whether it is the specific chemotherapy, whether its use of a PARP [poly (ADP-ribose) polymerase] inhibitor. So, it's important to understand who should have genetic testing.

So, the thresholds for who should have genetic testing for breast and ovarian cancer risk genes such as BRCA 1 and 2 is really being lowered consistently. The NCCN [National Comprehensive Cancer Network] guidelines, for example, keep lowering the bar, and it's important for us all to stay informed about that. I think that it is also very important when we're doing more and more tumor testing to identify which of the results from the tumor genomic profiling should trigger a referral for germline testing.

And so, it's important for breast medical oncologists to really understand what is the list of cancer susceptibility genes. And if the tumor profiling has a mutation, a pathogenic variant, or a likely pathogenic variant in one of those cancer risk genes, it really is important to refer the patient for germline genetic testing. I think those are probably the main take home messages.