rare-disease-cancer

Condition Review

Use this skill when the user asks about rare disease, hereditary disease, cancer risk genes, hereditary cancer, GeneCards-style gene context, MalaCards disease context, HPO/phenotype-to-disease review, HPO-style phenotype-to-gene review, carrier-relevance evidence, observed-condition review, or disease-gene source review.

Not for common-trait phenotypes. Common, complex-disease, GWAS-style, or drug-target candidate-gene questions use the matching source-specific tool. Use this skill when the phenotype is explicitly rare/Mendelian, HPO-style, or hereditary cancer.

Contract

Support both public-only questions and selected active genome evidence.

• Public-only questions stay public-only.
• Active genome evidence is used only when the current chat has selected or approved active genome access.
• GeneCards and MalaCards are context sources, not clinical-validity sources by themselves.
• Cancer-gene role, somatic cancer evidence, and inherited germline risk remain separate unless a reviewed source links them.
• Carrier-review output consumes ClinVar carrier_relevance groups and ranks review targets by evidence strength plus missing interpretation gates.
• Observed-condition review consumes observed-condition, uncertainty/conflict, risk-association, benign/counterevidence, and population-context groups.
• Reviewed source findings are stored before final interpretation or reporting.
• HPO and symptom overlap can prioritize review targets, but it is not a diagnosis.

First Tool

Call phenotype.plan_risk_investigation first. Provide any public targets the user gave:

• phenotype.plan_risk_investigation with {"question":"BRCA1 hereditary breast cancer risk","gene":"BRCA1","investigation_type":"cancer_risk"}
• phenotype.plan_risk_investigation with {"question":"carrier relevance review","investigation_type":"carrier_review"}
• phenotype.plan_risk_investigation with {"question":"observed ClinVar condition review","investigation_type":"observed_condition_review"}