🧬 Know When to Refer: A Genetic Counselor's Guide for Clinicians

Written By Yuriko Beaman

You don't need to be a genetics expert to recognize when a patient needs one. Here's a practical framework to help you identify hereditary cancer risk in your practice. Genetic Counselors who specialize in oncology can gather a detailed family history and discuss the benefits and limitations of genetic testing. The following information is sourced from the National Comprehensive Cancer Network.

👤 Personal History

Some diagnoses can indicate a referral on their own:

  • Breast cancer ≤50, triple-negative breast cancer, male breast cancer, or metastatic breast cancer

  • Endometrial or colon cancer ≤50

  • Ovarian, pancreatic, or metastatic/very high-risk prostate cancer

  • Bilateral or multiple primary cancers

  • ≥10 adenomatous colon polyps

  • HER2-negative breast cancer (has treatment implications — adjuvant olaparib eligibility)

  • Lobular breast cancer AND personal or family history of diffuse gastric cancer

👨‍👩‍👧 Family History

Patterns across generations matter. Genetic counselors are trained to gather a family history in a pedigree and interpret a patient’s risk for an inherited cancer syndrome. Even if your patient is unaffected, their family history can meet NCCN guidelines for genetic testing:

  • ≥3 relatives on the same side of the family with breast or prostate cancer

  • Multiple relatives with related cancers on the same side (e.g., colon + endometrial — could be indicators for Lynch Syndrome - https://geneticcounselor.org/blog/lynch-syndrome) 

  • Any close relative with ovarian, pancreatic, male breast, metastatic breast, or metastatic/very high-risk prostate cancer

  • Ashkenazi Jewish ancestry — 1 in 40 individuals carry one of 3 BRCA founder mutations

🔬 Tumor & Clinical Features

Sometimes the pathology itself is the signal:

  • MMR deficiency/MSI-H on tumor testing at any age

  • A pathogenic variant identified on somatic/tumor genomic testing that may have germline implications

Hereditary cancer risk assessment protects not just your patient — but their entire family. If hereditary cancer comes to mind, refer to a genetic counselor. That's what we're here for!

Yuriko Beaman
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Lynch Syndrome