---
name: genetics-assessment
description: Use when asked to administer, score, or explain a Genetics Assessment — clinical genetics evaluation with a three-generation pedigree and targeted risk scoring (Manchester Score, Bethesda criteria) — grounded in FormExamples/form-examples; closely related to genetic-assessment.
---

# 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](https://github.com/FormExamples/form-examples/tree/main/forms/genetics-assessment) for the full implementation, clinical references, and worked examples.
- [[genetic-assessment]] for the related, more general genetics-referral assessment.