Roadmap

From genomic skills to actionable family health

Gene is building toward a future where couples can understand their combined genetic risks, access NHS resources, and make informed reproductive decisions — all locally and privately.

Phase 01 Foundation — Core Skills Shipped

Local-first genomic analysis from a single command. Every result ships with checksums and full reproducibility bundles. No data leaves the machine.

PharmGx Reporter
12 genes, 51 drugs, CPIC guidelines. Star alleles → metaboliser phenotype → drug recommendations.
CYP2D6CYP2C19CPIC
NutriGx Advisor
40 SNPs across 13 nutrition domains. Caffeine, lactose, folate, vitamin D, omega-3.
MTHFRFTOMCM6
GWAS PRS
Polygenic risk scores from PGS Catalog. Type 2 diabetes, CAD, breast cancer, and more.
PGS Catalog300+ SNPs
Genome Compare
IBS pairwise comparison against George Church’s public genome + ancestry estimation.
IBSCorpasome
Equity Scorer
HEIM diversity metrics. FST, heterozygosity, population representation scoring.
FSTSGDP
Ancestry PCA
Principal component analysis against 345 SGDP samples across 164 populations.
PCASGDP
Phase 02 Intelligence — Routing & Federation In progress

An AI agent layer that picks the right skill, runs it, and explains the results in plain language. Federated queries across 9 genomic databases. Interactive web demo.

Bio-Orchestrator
LLM-powered routing. Matches natural language queries to the right skill automatically.
ClaudeGeminirouting
GWAS Lookup
Federated variant query across GWAS Catalog, ClinVar, gnomAD, GTEx, PheWAS, Open Targets, BBJ, FinnGen, PharmGKB.
9 databasesrsID
Gene Webchat
Mobile-first chat interface. File upload, pipeline visualisation, bottom-sheet debug panel.
PWAVercel
Profile Report
Unified genomic dashboard combining PharmGx, PRS, ancestry, and nutrition into one view.
multi-skill
UKB Navigator
Semantic search across 22,000+ UK Biobank fields. Instant field discovery.
UK Biobankembeddings
Galaxy Bridge
Search, inspect, and run 8,000+ tools on usegalaxy.org from the chat interface.
BioBlendGalaxy
WIP Profile Builder
LLM extraction agent. Parses medical history, medications, family history into structured profiles with confidence scoring.
NLPextraction
WIP ClinPGx API
Gene-drug lookup across ClinPGx, PharmGKB, and FDA drug labels.
PharmGKBFDA
Phase 03 Family Planning & Genetic Counselling Next

Help couples assess combined reproductive risk. Structured family history collection, multi-generational risk modelling, and carrier screening — linked directly to NHS resources. Probability-based, never diagnostic.

Planned Partner Carrier Screening
Compare two genomes for recessive carrier risk. Conditions like cystic fibrosis, sickle cell, Tay-Sachs, spinal muscular atrophy.
carrier pairsautosomal recessive
Planned IVF Preparation Report
Pre-IVF risk summary for couples and clinicians. What to screen for, what to discuss, what to prepare for.
clinical reportPGT
Planned NHS Resource Integration
Every risk assessment links to relevant NHS services, genetic counselling referrals, and IVF preparation guides.
NHS APIreferrals

Supporting infrastructure

Planned Family History Questionnaire
Guided conversation collecting multi-generational medical data. Heart disease, psychiatric conditions, autoimmune, cancer.
structured intakeNLP
Planned Reproductive Risk Engine
Multi-generational probability model combining genomic data + family history into actionable risk summaries.
Bayesianpedigree
Planned Evidence Generation
Aggregate anonymised family history data to generate population-level evidence for research and public health.
epidemiologyaggregation
Phase 04 NHS Pilot & Scale Future

Clinical validation, multi-user sessions, and API access. Position Gene as infrastructure that NHS genetic counselling services can adopt — not replace.

Planned NHS Pilot Programme
Partner with NHS genetic counselling services to validate the family planning workflow in a clinical setting.
clinical validation
Planned Multi-User Sessions
Couples and clinicians share a session. Both partners’ genomes analysed together with combined risk outputs.
sessionsRBAC
Planned API Access
RESTful API for third-party integration. Fertility clinics, genetic counselling platforms, research consortia.
RESTOAuth
Planned Skill Marketplace
Community-contributed skills. Publish a SKILL.md, submit a PR, it’s live. Every paper figure becomes a reproducible skill.
open sourcecatalog.json

Build with us

Gene is open source and skill-based. Every analysis is a self-contained skill with its own methodology, tests, and demo data. Pick a skill from the wanted list or propose your own.