Hereditary Cancer

Family history is the least reliable reliable thing in a chart.

Ask a patient about their family's cancer history twice, a year apart, and you will often get two different answers. Ages get misremembered. "Some kind of cancer" stands in for a specific diagnosis. A cousin becomes an aunt. It's not a data quality problem you can train your way out of. And yet plenty of testing workflows still treat family history as the gate: no family history, no referral, no test.

PEDIGREE AS DOCUMENTED ? ? ? Proband Affected, documented History unverified Patient in front of you 3 of 6 relatives never confirmed
Standard pedigree notation: squares male, circles female, filled indicates an affected relative. Pulsing outlines mark relatives whose history was never confirmed.

Family history is supportive, not a sole qualifier

ScreenMyGene doesn't wait for a clean family history to consider a hereditary cancer panel, and it doesn't stop at a vague one either. Personal history — prior diagnoses, age at onset, tumor characteristics documented in the chart — carries real weight on its own. Family history strengthens or weakens the case; it doesn't singlehandedly decide it. That distinction matters most for exactly the patients most likely to be missed: the ones whose relatives were never tested, never diagnosed, or simply never talked about it.

SIGNALS WEIGHTED SEPARATELY Personal history Early onset · tumour pathology · prior diagnoses Family history Partial — supportive, not decisive THRESHOLD Qualifies on personal history alone
Personal and family history contribute independently. A well-documented personal history can carry the recommendation across the threshold on its own.

How it works for hereditary cancer specifically

1. Personal and family history extraction — Diagnoses, ages at onset, and relevant family history are pulled from the chart and structured rather than left as free text.

2. Criteria matching — Extracted history is evaluated against professional-society testing criteria for the relevant syndromes.

3. Confidence-weighted panel selection — Personal and family history findings are weighted separately. A strong personal history can qualify a panel with a thin family history; a strong family history can flag a panel worth confirming even with limited personal findings.

4. ICD-10 and coverage check — The recommendation is anchored to a documented, matching diagnosis code and checked against Medicare LCD/NCD coverage policy.

What this catches that a family-history checklist misses

NOT ONE SYNDROME Breast & ovarianpersonal + family Lynch syndromecolorectal · endometrial Other syndromesas history supports Panel matched to what the chart supports
Panel selection follows the syndrome the documented history points to, rather than defaulting to a single familiar gene pair.

Who this is for

See how personal and family history combine into one recommendation.

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