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Precision Medicine Stratification - Quick Start

Basic Usage

Cancer patient with actionable mutation

Stratify this breast cancer patient: BRCA1 pathogenic variant, ER+/HER2-, stage IIA, age 45. What is her risk level and recommended treatment?

Metabolic disease with pharmacogenomics

Precision medicine stratification for type 2 diabetes patient: HbA1c 8.5%, CYP2C19 *2/*2 poor metabolizer, also on clopidogrel for CAD stent. Age 62, male.

Cardiovascular risk assessment

Stratify cardiovascular risk: LDL 190 mg/dL, SLCO1B1*5 heterozygous, family history of MI at age 48. Age 50, male. What statin should I use?

NSCLC with comprehensive molecular data

Precision medicine report for NSCLC patient: EGFR L858R mutation, TMB 25 mut/Mb, PD-L1 80%, stage IV, age 58. No EGFR T790M resistance.

Rare disease evaluation

Stratify this Marfan syndrome patient: FBN1 c.4082G>A variant, tall stature, aortic root dilation 4.2cm, age 28. What is the risk tier?

Alzheimer's risk assessment

Precision medicine risk assessment: APOE e4/e4 genotype, family history of Alzheimer's in both parents, age 55. What is the genetic risk and prevention strategy?

What You Get

The skill produces a comprehensive markdown report with:

  1. Precision Medicine Risk Score (0-100) with transparent component breakdown

    • Genetic Risk (0-35): Germline variants, PRS, gene-disease associations
    • Clinical Risk (0-30): Stage, biomarkers, comorbidities
    • Molecular Features (0-25): Driver mutations, molecular subtype, actionable targets
    • Pharmacogenomic Risk (0-10): CYP metabolizer status, HLA alleles

  2. Risk Tier Assignment: LOW (0-24) / INTERMEDIATE (25-49) / HIGH (50-74) / VERY HIGH (75-100)

  3. Disease-Specific Stratification: Cancer molecular subtype, metabolic risk integration, CVD risk score, rare disease genotype-phenotype correlation

  4. Pharmacogenomic Profile: Drug metabolism phenotype, FDA PGx biomarkers, dosing recommendations

  5. Treatment Algorithm: 1st-line, 2nd-line, 3rd-line/investigational with evidence

  6. Clinical Trial Matches: Biomarker-driven and precision medicine trials

  7. Monitoring Plan: Biomarker surveillance, imaging schedule, risk reassessment

  8. Outcome Predictions: Prognosis, treatment response, projected timeline

Input Requirements

Required

  • Disease/condition: Any disease name (cancer, metabolic, CVD, neurological, rare, autoimmune)
  • At least one of: Germline variants, somatic mutations, gene names, or clinical biomarkers

Optional (improves accuracy)

  • Age, sex, ethnicity
  • Disease stage/grade
  • Clinical biomarkers (HbA1c, LDL, PSA, tumor markers)
  • Pharmacogenomic genotypes (CYP2D6, CYP2C19, SLCO1B1, etc.)
  • Comorbidities
  • Current medications
  • Family history
  • Prior treatments and responses
  • Stratification goal (risk assessment, treatment selection, prognosis, prevention)

Supported Disease Categories

Category Examples Key Outputs
Cancer Breast, lung, colorectal, melanoma, prostate Molecular subtype, targeted therapy, TMB/MSI status
Metabolic Type 2 diabetes, obesity, NAFLD, MODY HbA1c risk, genetic subtype, complication risk
Cardiovascular CAD, heart failure, AF, FH ASCVD risk, statin PGx, anticoagulant selection
Neurological Alzheimer, Parkinson, epilepsy APOE risk, genetic risk, drug PGx
Rare/Monogenic Marfan, CF, sickle cell, Huntington Variant pathogenicity, penetrance, genotype-phenotype
Autoimmune RA, lupus, MS, Crohn's HLA associations, biologics selection, PGx