Genetics Assessment

Clinical genetics assessment capturing proband medical history, a detailed three-generation family pedigree, ancestry, and targeted risk scoring (e.g. Manchester Score for BRCA, Bethesda criteria for Lynch syndrome) to stratify genetic risk and guide testing and referral.

Scoring

Instrument: Clinical Genetics Risk Assessment (aligned to NICE CG164 / NCCN / Manchester Score).

• Low — no referral criteria met; reassurance and family history review.
• Moderate — family history meets risk thresholds requiring specialist genetics input (e.g. Manchester Score 10–15).
• High — family history meets testing thresholds (e.g. Manchester Score ≥ 15, a known pathogenic variant, or early-onset cancers).

What it covers

Proband demographics; presenting concern; personal medical history (cancers, congenital anomalies, neurodevelopmental disorders); a three-generation family pedigree; consanguinity and ancestry; targeted risk scoring (Manchester, Bethesda, etc.); prior genetic testing; patient understanding and concerns; and recommendation with a referral plan.

Relationship to genetic-assessment

See Genetic Assessment for the sibling, more general assessment using a simpler 0–6+ weighted score across four genetics domains (cancer, cardiovascular, neuro, reproductive). This assessment is the deeper, cancer-genetics-oriented counterpart with named validated scoring tools and a formal three-generation pedigree.

Common pitfalls

• Using named scoring tools (Manchester, Bethesda) outside their validated scope — each tool is validated for a specific cancer syndrome and population; applying Manchester Score logic to a presentation it wasn't designed for can misstate risk.
• Building an incomplete pedigree — a genuine three-generation pedigree needs both maternal and paternal lines and unaffected as well as affected relatives; a pedigree that only records affected relatives understates or misrepresents the actual pattern.
• Not capturing patient understanding and concerns — genetic testing has real psychological and family implications; skipping this section misses informed-consent-relevant context the referral plan should account for.

Learn more

• FormExamples: genetics-assessment for the full implementation, clinical references, and worked examples.
• Genetic Assessment for the related, more general genetics-referral assessment.