Personal Genomics

What it does

This skill performs privacy-first local DNA analysis using 1600+ validated genetic markers across 30 categories. It provides insights into pharmacogenomics, disease risk, carrier status, ancestry, and hereditary cancer, utilizing nine major genomics reference databases integrated for validated analysis. The analysis runs locally without network requests, ensuring data privacy.

When to use it

• Personalized Medicine: Determine potential drug responses based on genetic variations before starting a new medication.
• Ancestry Exploration: Discover ethnic origins and trace ancestral lineages using haplogroup and admixture analysis.
• Health Risk Assessment: Identify predispositions to conditions like hereditary cancer or autoimmune diseases, allowing for proactive health management.
• Carrier Screening: Assess carrier status for recessive genetic disorders, particularly important when planning a family.

Key capabilities

• 1600+ validated genetic markers across 30 categories
• Polygenic Risk Scores (PRS) for 10+ major conditions
• Pharmacogenomics with CPIC Level 1A drug-gene interactions
• Medication Interaction Checker
• Carrier screening for 35+ recessive diseases
• VCF support for whole genome/exome sequencing
• Agent-friendly JSON output
• Local, zero-network analysis
• Haplogroup Analysis (mtDNA and Y-chromosome)
• Ancestry Composition analysis

Example prompts

• "Analyze my DNA data and identify potential medication interactions."
• "What is my ancestry composition based on my genetic markers?"
• "Assess my risk for hereditary cancer, focusing on BRCA1/2 variants."
• "Perform carrier screening for recessive diseases and provide a prioritized list of actionable items."

Tips & gotchas

The skill requires whole genome or exome sequencing data in VCF format. While it offers universal ethnic coverage, the accuracy of ancestry estimates may vary depending on the availability of reference population data.