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Rare disease clinical decision support · PathfindEHR™

The rare disease patient is already in your data.

PathfindEHR™ is a HIPAA-eligible clinical decision support system that helps specialists surface the undiagnosed and underdiagnosed, applying governed, specialist-reviewed disease pathways and machine learning across the EHR and real-world data you already have.

The diagnostic odyssey

Years lost in the wilderness of complexity.

The average rare disease patient sees multiple specialists over many years before a correct diagnosis. The signals were in the record all along: scattered across visits, labs and notes, never connected. That delay is the problem we exist to solve.

  • Fragmented signals. Relevant findings sit in different encounters and systems.

  • Manual review doesn’t scale. No clinician can chart-review an entire population.

  • Definitions drift. Without governance, “who counts” changes from run to run.

How it works

From governed definition to the hidden patient.

Step 1

Define the disease

Key opinion leaders curate a governed disease pathway (codes, signals, inclusions and exclusions), reviewed and signed off by a clinician panel, never improvised.

Step 2

Search the terrain

PathfindEHR™ applies the pathway across existing EHR and real-world data with AI/ML to find patients who match.

Step 3

Reveal the hidden patient

Get an explainable list of candidates, each with its supporting evidence, turning years of scattered data into a clear starting point for clinical review.

Capabilities

What PathfindEHR™ does.

KOL-governed condition content

Curated medical-condition modules per disease, authored and approved through multi-KOL sign-off, governed and reproducible, never free-text.

Patient-finding engine

Deterministic, governed logic surfaces a prioritized, explainable list of candidate patients for specialist review — each with the evidence that matched the pathway, run in-warehouse on existing data.

Comprehensive condition reports

Assembled, up-to-date disease reports, exportable to PDF and Word for the clinicians who need them.

Case-finding code sets

Live assembly of standardized code sets (e.g. via VSAC) for each condition, so cohorts rest on current, defensible definitions.

Patient-finding guide

Plain-language, step-by-step guidance so clinicians can act on a cohort without writing a line of SQL.

Evidence runs with citations

Pull from trusted clinical sources with full citation traceability, then synthesize. Every claim traceable to its source.

The data foundation

FHIR-native analytics: runs where your data lives.

PathfindEHR™ is built on the data you already have. It reads standard FHIR and real-world clinical data and analyzes it in place. No migration, no copying PHI out of your environment.

FHIR & standards-based

Works with standard FHIR and real-world clinical data. No bespoke data model to build first.

Runs in your warehouse

Analytics execute where your data lives, so PHI stays inside your governed environment.

Deterministic & reproducible

Cohort logic compiles to governed SQL: the same inputs always produce the same patients.

Population-scale

Analyze whole populations at once, not one chart review at a time.

Clinically governed

Validated by the people who define the field.

Key opinion leaders (KOLs) curate and sign off every rare disease definition before it’s used. The patients PathfindEHR™ surfaces rest on clinically defensible criteria, reviewed by leading clinicians, not produced by an opaque algorithm.

  • KOL-curated disease definitions
  • Clinician sign-off before go-live
  • Versioned, auditable changes

Who it’s for

Clinicians, researchers, and the systems behind them.

Rare disease clinicians

Surface candidate patients who match a curated disease profile across your records.

Clinical researchers

Build reproducible cohorts for studies and real-world evidence, defensible and governed.

Health systems & partners

Operationalize patient finding across populations without new data collection.

Put PathfindEHR™ on your toughest cohort.

We’ll show you the path of discovery on a real rare disease example.