When a Patient Asks If She Should Get “The Gene Test”
📍 Saskatchewan · ⏱️ 11 minute conversation · ✓ Appropriate testing pathway identified
The Context
Dr. Rachel O’Connor’s patient, Stephanie, was 34 and healthy. But she’d just come back from a funeral — her aunt had died of ovarian cancer at 51. It was the same aunt whose sister, Stephanie’s mother, had breast cancer at 46 but survived.
Stephanie was scared. “Should I get tested for BRCA? I’ve been reading about it online. Can you order it?”
Rachel wasn’t sure. She knew BRCA testing existed, but she didn’t know the criteria for ordering it. Was two relatives with cancer enough? Did it matter that her mother was still alive? Could she even order the test herself, or did Stephanie need genetics first? And what would she do with the result if it came back positive?
The Question
“34-year-old woman asking about BRCA testing. Mother had breast cancer at 46 (survived), maternal aunt just died of ovarian cancer at 51. No other known family history. Does she meet criteria for genetic testing? Can I order it, or does she need a genetics referral? And if she tests positive, what happens next?”
The Consult
Dr. Anita Joshi, a medical geneticist, confirmed that Stephanie’s family history was significant. A first-degree relative with breast cancer under 50 plus a second-degree relative with ovarian cancer at any age meets the threshold for BRCA testing in most provincial guidelines.
But there was a better approach than testing Stephanie directly.
“If possible, test the affected relative first — in this case, her mother. If mom carries a BRCA mutation, then we test Stephanie. If mom is negative, Stephanie’s risk drops dramatically and she may not need testing at all.”
She explained that testing an unaffected person first can lead to uninformative results — a negative doesn’t rule out a family mutation if you don’t know what you’re looking for.
Rachel could refer directly to genetics, or in some provinces, order the test herself through a hereditary cancer program. The geneticist offered to see Stephanie if Rachel preferred.
The Outcome
Rachel called Stephanie’s mother, who agreed to be tested first. The genetics team facilitated testing through the provincial hereditary cancer program.
| Conversation duration | Strategy | Outcome |
| 11 min | Mother tested first | Clear pathway |
Two months later, the result came back: Stephanie’s mother was BRCA1 positive. Now Stephanie had a clear answer to pursue — and a 50% chance of carrying the same mutation.
Stephanie was tested and, unfortunately, was also positive. But because of the early identification, she was connected with a high-risk breast clinic for enhanced screening and a discussion about risk-reducing options.
“At least I know,” Stephanie said. “That’s better than wondering.”
What the Physician Learned
“I almost just ordered the test on Stephanie because she was the one sitting in front of me. The geneticist explained why that’s backwards — you test the affected person first, so you know what you’re looking for. It changed how I think about hereditary cancer. Now I ask: who in the family has actually had cancer, and can we test them?”
— Dr. Rachel O’Connor, Family Physician, Saskatchewan
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