Mutation Manager & Eligibility Websites
Genetic Therapy Decision Platform
Overview
Mutation Manager gave scientific and regulatory teams a single source of truth for mutation eligibility—supporting ~1,500+ HCP users and ~30+ internal regulatory users across one governed platform, with mutation search behavior feeding directly back into scientific and commercialization strategy
Goal
Create a single source of truth for mutation eligibility—with a governance engine managing approvals consistently and HCP sites delivering accurate, real-time status at the point of care.
Team
Cross-shore: Product, Analytics & Optimization, Engineering, UX
Role
Primary client-facing lead across strategy, analytics, engineering, omnichannel, and CRM from scoping through launch.
Problem
For this rare genetic enzyme disorder, physicians needed fast enzyme mutation lookup while global teams governed ~2K listed mutation entries across 16 countries
This rare genetic enzyme disorder is genetically complex, with published prevalence commonly cited at ~1 in 40,000–170,000 live births and 1,000+ identified enzyme variants across multiple clinical phenotypes. In practice, physicians needed real-time mutation lookup, while scientific and regulatory teams needed one governed workflow to classify and publish status consistently across markets.
~2.2K listed mutation entries created the governance need
- When mutation status changed, global genetics teams needed one workflow to classify, approve, and publish it consistently across 16 countries
- ~1K amenable and ~800 non-amenable listed rows made manual governance too slow and error-prone
- A physician prescribing based on an incorrect amenability status isn't an operational error—it's a patient safety event. That consequence defined the quality bar for the system.
Physicians needed fast point-of-care lookup
- When a patient's enzyme mutation was known, treating physicians needed to search status quickly and accurately at the point of care
- Manual interpretation was too slow and fragmented for real clinical use
The disease rarity did not reduce complexity
- When serving a rare population, teams still had to interpret a broad mutation landscape with 1,000+ identified variants in the literature
- When approvals, publishing, and physician search lived in separate systems, teams could not keep status current or learn from demand patterns across markets
Solution
The shared system produced internal governance and HCP decision support
Mutation Manager used one central mutation model to power approval-stage workflow, market-specific publishing, and physician-facing lookup.
Workflow state machine
Status-driven review instead of manual coordination
Regulatory workflow control
Science → QC → Regulatory → HA approval
Audit logging + status history
Traceable mutation lifecycle across markets
Role-based access
Okta / SSO-based permissions
Central mutation database
Source of truth for entities, synonyms, and classification
Approval-triggered publication
Country-gated HCP search and measurement framework
System Architecture
Mutation Manager
Central Mutation Relational Database
Source of Truth
Country Sites (HCP Mutation Search)
Each site includes: Mutation Search, Amenable / Non-Amenable Status, Event Tracking
Intelligence (Scientific & BI Layer)
Single vs Multiple; DNA vs Protein
Yes, No, Not Tested, Not Recognized
Quality Visits, Users that Searched...
The same system that governed mutation publication generated reusable search intelligence—making Mutation Manager valuable not just for status delivery, but for shaping scientific prioritization and cross-market UX over time.
- ~1,800 sequences searched in 2 countries
- Query strings, mutation format, recurrence, and geography
- ~19 sequences appeared across all 3 countries, creating a small global convergence set
- Reduce unidentified searches with format guidance, autocomplete, and synonym mapping
- Prioritize high-frequency mutations for medical / regulatory review
- Detect regional clustering and recurring mutation patterns
- White-labeled and deployable across 16 countries
- Consistent instrumentation across markets made search behavior comparable
- Turned physician lookup into a reusable mutation intelligence layer
Scale
~5K searches across 3 markets exposed ~32% unidentified inputs in AR/AU and ~44% amino-acid search behavior in Brazil
Scale revealed how physicians actually searched—not just that they searched. Argentina and Australia showed high-volume, high-ambiguity patterns pointing to input friction. Brazil's amino-acid-heavy queries indicated a different clinical workflow entirely, shifting our UX roadmap toward format guidance and regional synonym support.
| Market | Searches | Unidentified inputs | Dominant input pattern | What it suggested |
|---|---|---|---|---|
| Argentina | ~2,000 | ~32% | ~65% nucleotide | High ambiguity; better input guidance needed |
| Australia | ~2,800 | ~33% | ~66% nucleotide | Largest demand signal; same search friction persisted |
| Brazil | ~120 | ~18% | ~44% amino acid | Different clinical workflow; local UX should adapt |
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Intelligence captured across sequences
Across sequences searched in multiple countries, ~19 sequences appeared consistently across all 3 markets—suggesting a small set of high-prevalence mutations that should anchor global convergence set.
Intelligence tracked the platform was positioning itself to gather the insights necessary to refine mutation input patterns and regional search variants, making search behavior comparable and applied learning actionable across markets.
Artifacts
Built a 16-country mutation governance engine that routed 100% of entries through structured approval
Mutation Manager replaced email-thread coordination with a central mutation database—connecting regulatory workflow, publication logic, HCP search, and analytics through role-based access, full audit history, and approval-triggered publishing across 16 markets.
HCP Mutation Search
Search Results & Status
Mutation Details
Internal Governance Portal