Most missed referrals come down to an incomplete family history. Many providers ask about breast and ovarian cancer and stop there, when colon, uterine, prostate, and pancreatic cancer on either side of the family matter too.
Refer for genetic counseling and multi-gene panel testing if your patient has breast cancer diagnosed at 50 or younger, triple-negative disease at any age, or two separate primary breast cancers. Also refer for male breast cancer in any relative, at any age, and for ovarian, fallopian tube, or peritoneal cancer at any age — personal, or in an untested first- or second-degree relative, either side of the family. A third-degree relative counts too, but only if she's connected through two male relatives (for example, a paternal grandfather's mother or sister). A single first- or second-degree relative with breast cancer diagnosed at 50 or younger already qualifies — you don't need a second affected relative. So does a relative's breast cancer at any age paired with triple-negative disease, Jewish ancestry, or high-grade or metastatic prostate cancer (Gleason score of 8 or greater, PSA of 20 or greater, or T3a disease) on the same side of the family. Pancreatic cancer in a first-degree relative qualifies on its own, as does colon or uterine cancer diagnosed under 50 in a relative on either side. So does a known pathogenic or likely pathogenic variant anywhere in the family, or three or more relatives on the same side with any combination of breast, ovarian, colorectal, pancreatic, endometrial, prostate, or melanoma cancer.1
It's also worth remembering how much the panels have broadened. BRCA1 and BRCA2 are the ones patients have heard of, but standard testing now covers PALB2, TP53, PTEN, CDH1, STK11, ATM, CHEK2, BARD1, RAD51C, RAD51D, and NF1 as well, and management differs quite a bit depending on which gene comes back.12
Referral criteria checklist
| Category | Refer if… |
|---|---|
| Personal breast cancer history | Diagnosed ≤50 · triple-negative at any age · two separate primaries · lobular breast cancer with a family history of diffuse gastric cancer |
| Male breast cancer | Any male breast cancer, any age, personal or in any relative |
| Ovarian cancer | Any epithelial ovarian, fallopian tube, or primary peritoneal cancer — personal, or in an untested first- or second-degree relative, any age, either side of the family. A third-degree relative counts too, if she's connected through two male relatives (e.g., a paternal grandfather's mother or sister) |
| Single relative, early-onset or high-risk disease | A first- or second-degree relative, either side, with: breast cancer ≤50 · or breast cancer at any age plus triple-negative disease, Jewish ancestry, or high-grade/metastatic prostate cancer on the same side · or high-grade/metastatic prostate cancer alone (Gleason ≥8, PSA ≥20, or T3a) · or colon cancer <50 · or uterine cancer <50 |
| Multiple relatives, same side | Three or more relatives on the same side with any combination of breast, ovarian, colorectal, pancreatic, endometrial, prostate, or melanoma cancers |
| Pancreatic cancer | Pancreatic cancer in a first-degree relative — qualifies on its own |
| Ashkenazi ancestry | Ashkenazi Jewish ancestry plus a breast cancer diagnosis — personal or in a close relative — at any age; the founder-variant pathway that gets missed most often |
Counseling before testing, not after
Genetic counseling should come before genetic testing. NCCN and ACMG both treat it as the standard, and the guidelines don't require a certified genetic counselor specifically — a clinical geneticist, oncologist, surgeon, oncology nurse, or other provider with real training and experience in cancer genetics can provide it too. In practice, that still usually means referring out: default to referral unless your own training and your practice's workflow can genuinely support pre- and post-test counseling in-house.
In the counseling visit, she finds out which genes are on the panel she is being tested for, what a result can actually look like (including a variant of uncertain significance, which surprises most people), what changes in her care if something turns up, and what it would mean for her siblings and her kids.12
One more thing worth checking before you refer a patient — if she arrives with a prior genetic test already done, you should find the actual report. Confirm the specific test and panel that were run; a limited or outdated panel can look like a negative result when it never tested the genes in question, and a variant reported as uncertain may have since been reclassified.1
What to do during the four-to-eight-week wait
Counseling waitlists run four to eight weeks in most places, and then the panel itself adds another two to three. Patients get lost in that gap. Three things worth doing before she leaves your office.
- Run the risk model without waiting on genetics. Tyrer-Cuzick doesn't need a test result. If her family history alone puts her over 20% lifetime risk, she's eligible for supplemental MRI screening right now, and you can start it. A positive or negative panel may adjust the plan later.3
- Finish the pedigree. Paternal history is the piece that routinely gets skipped, and it carries the same weight as maternal. Ask about the paternal grandmother, paternal aunts, and any men in the family with breast or prostate cancer. Collect ages at diagnosis while you're at it, since the ages do more work in the model than the number of relatives does.
- Put a real date in the chart before she leaves, not just a note that you referred her. Referrals nobody follows up on are how patients who needed surveillance end up going years without it.
Three things that get missed
Requiring more relatives than the criteria actually ask for. A single first- or second-degree relative with breast cancer at 50 or younger already qualifies — it doesn't take a second affected relative or a larger family pattern. Ashkenazi ancestry plus a single breast cancer diagnosis anywhere in the family works the same way: one diagnosis is enough. Clinicians hold off in both scenarios, waiting for a bigger pattern the criteria never asked for.1
Underestimating Ashkenazi ancestry on its own. Ashkenazi Jewish ancestry raises the likelihood of carrying a BRCA1/2 founder mutation to roughly 1 in 40, versus about 1 in 400 in the general population. Testing may be clinically indicated for her and should be offered with appropriate counseling. More than 90% of American Jews are of Ashkenazi descent, patients who identify as Sephardic often carry the same founder mutations, and so do some patients of Eastern European ancestry who aren't Jewish at all. Ask about Eastern European ancestry generally, not just whether she identifies as Ashkenazi.14
Treating a VUS as a positive. A variant of uncertain significance doesn't change management and shouldn't change her screening. Most get reclassified eventually, and most of those land on benign. Moving a patient into high-risk surveillance on a VUS alone is common, and it does harm.2
Treating a negative panel as a clean slate. The genes on the panel explain only part of familial breast cancer. If her family history is strong, she can still be over 20% lifetime risk with a completely negative panel, and she still needs the supplemental screening that comes with it. A negative result doesn't cancel out a concerning family history.
How Gabbi fits
For a patient you refer, Gabbi runs the risk assessment (Tyrer-Cuzick plus GRAM) immediately orders genetic testing and counsels patients at the same time, so her screening plan isn't sitting idle for two or three months.
Risk assessment starts immediately — it does not wait on the genetics timeline.
Frequently asked questions
Should I order the panel myself or refer to genetics?
Refer, unless your practice has an established pre- and post-test counseling workflow and your own training in cancer genetics supports it — NCCN doesn't require a certified genetic counselor specifically, but the counseling itself is not a formality: result interpretation, VUS handling, and cascade testing for relatives all require it, and a mishandled result creates downstream harm.
Does insurance cover genetic testing?
Usually, when she meets NCCN criteria. Most commercial plans and Medicare cover both the counseling visit and the panel. Approval tends to hinge on documentation, so name the specific criterion she meets in the referral. If she doesn't meet criteria, self-pay panels have come down in price enough to be a reasonable option, and that's a conversation to have with her directly.
My patient's relative tested positive but she does not want to be tested. What now?
Manage her as an untested first-degree relative of a known carrier — which means she qualifies for annual MRI plus mammography starting at age 25 under NCCN criteria, whether or not she ever tests.3 Declining testing does not remove her from surveillance eligibility.
What if the family history is unknown — adoption, estrangement, small family?
Unknown family history is itself a referral consideration, particularly with an early-onset diagnosis. Models like Tyrer-Cuzick will systematically under-estimate risk when the pedigree is empty because it cannot distinguish "no family history" from "no information." Flag it explicitly rather than letting the model treat it as reassuring.
How long do results take?
Counseling waitlists commonly run four to eight weeks; panel turnaround after the blood or saliva draw is typically two to three weeks. Plan for roughly two to three months end-to-end, and start the risk-based surveillance decision in parallel rather than waiting.
Sources
- NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment — Breast, Ovarian, and Pancreatic, Version 3.2025 (CRIT-1, CRIT-2, EVAL-A).
- American College of Medical Genetics and Genomics (ACMG) practice guidelines on variant interpretation and reporting.
- NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Screening and Diagnosis, Version 3.2025.
- American College of Obstetricians and Gynecologists (ACOG) practice guidance on Ashkenazi Jewish ancestry and hereditary cancer risk.
This article is written for licensed clinicians and does not constitute medical advice for patients. Guidelines evolve — verify against the current source before making a clinical decision.