Genetic Counseling Referrals Rely on Genetic Report Examinations

When a nurse practitioner looks at a somatic report, one of the first things that they need to consider is a patient’s past medical history as well as their family medical history, according to Suzanne Mahon, DNS, RN, AOCN, AGN-BC, FAAN.

During the 2025 Oncology Nursing Society Congress, Mahon, a clinical nurse specialist and professor emeritus at Saint Louis University, told CancerNetwork® that there are some cancer types that should be germline tested without hesitation, such as medullary thyroid cancer, triple-negative breast cancer, metastatic prostate cancer, and pheochromocytomas, just to name a few. She noted the NCCN guidelines have a more extensive list.

Additionally, it is important to consider the pathology of the patient’s tumor. Mahon stated that if the disease has a gene alteration that is associated with germline risk, the patient needs to be referred to a genetic counselor or oncologist for additional input. High variant alleles are also a reason to refer, she added. She concluded by saying that being asked by a patient to be tested can also be a valid enough reason to do so.

Transcript:

If you’re looking at a somatic report, [there are] things that you always need to do. First, no matter what, you need to look at the family and the patient’s history. Do they have one of those cancers that automatically should be germline tested—medullary thyroid cancer, pheochromocytomas, triple-negative breast cancer, or metastatic prostate cancer? There’s a laundry list in the NCCN guidelines. If they have one of those cancers, whether you’ve done somatic biomarker testing or not, they’re an automatic referral. We need to get in the habit of doing a full 3-generation pedigree. If you just ask someone, “Oh, is there any cancer in your family?”, we would all miss things. You have to systematically go through [their history]. How many siblings [do they have]? Are they alive? What is their health? We need to then look at that family history. Do they hit the criteria for testing based on personal or family history?

We also need to think about the pathology of their tumors. As I said, triple-negative breast cancer, metastatic prostate cancer, and—the one that gets missed all the time—people who have 20 colon polyps over a lifetime should be getting germline testing. If your patient hits any of those criteria, you need to automatically refer them [to be tested]. When you look at the somatic report, do they have an alteration in a gene associated with germline risk? That means you need to know which genes are potentially associated with germline risk, and if they are, even if it’s not concordant with the family history, that’s a reason to refer.

Finally, if they have a high variant allele frequency, especially in a gene associated with germline risk, that would be a reason to refer. I always say, “Listen to the patient.” If the patient is asking you, “Should I have testing to see if my kids are at risk?”—because that’s usually how the question gets asked—you have to listen to your patient and say, “We can explore that and not eliminate that.” Sometimes patients have a gut [feeling] they can’t quite explain to you, but it’s there.

Reference

Genetic testing for hereditary breast, ovarian, pancreatic, and prostate cancers. NCCN. 2025. Accessed April 17, 2025. https://tinyurl.com/msfp7mve