Purpose-Built for
Centers of Excellence

Empower clinical genetics teams with AI-assisted workflows, clinical decision support, longitudinal patient management, and research-ready data, all within a single intelligent platform.

Document processed
HPO ExtractionAuto
  • HP:0001250 · Seizures
  • HP:0000924 · Skeletal anomaly
  • HP:0004322 · Short stature
Rapid ScoreAI · Ranked
Marfan Syndrome94%
Ehlers-Danlos Synd.67%

THE CHALLENGE

The Challenges Facing Rare Disease Centers

Centers of Excellence manage some of the most complex patient journeys in healthcare, yet clinicians still rely on fragmented workflows, manual documentation, and disconnected systems.

RECORDS

Unstructured Clinical Records

Clinical histories, laboratory reports, and genetic findings arrive in multiple formats, making structured analysis difficult.

THE SOLUTION

How IndiGeneUs.AI Transforms Rare Disease Care

From intelligent data capture to AI-assisted clinical reasoning, IndiGeneUs.AI supports clinicians throughout the entire rare disease journey.

01

CLINICAL WORKFLOWS

AI-Assisted Clinical Workflows

Standardize complex clinical pathways with configurable workflows purpose-built for genetic and rare disease programs.

Consistent documentation across every consultation

Patient Intake — Step 3 of 5

HPO TERMS

Seizures HP:0001250×Hypotonia HP:0001290×Ataxia HP:0001251×+ Add term

SYMPTOM ONSET

Infancy (0–2 years)

FAMILY HISTORY

NoneAffected siblingUnknown
Form completion60%
02

INTELLIGENT DATA CAPTURE

AI-Powered Data Capture

Automatically digitize reports, extract HPO terms, and structure clinical information through AI-assisted OCR and phenotype extraction.

Eliminate manual data entry from clinical reports

Document Import

lab_report_aiims_2024.pdf

2.4 MB · Uploaded just now

Done
Extracting structured data100%

IDENTIFIED DATA

  • Gene VariantBRCA2 pathogenic c.5946delT
  • PhenotypeHP:0001250 Seizures
  • PhenotypeHP:0000924 Skeletal anomalies
  • Lab ValueCK: 1,240 U/L ↑ elevated
StructuredHPO TaggedRegistry-Ready
03

CLINICAL DECISION SUPPORT

Evidence-Driven Diagnosis

Generate evidence-backed differential diagnoses by combining phenotypic, genomic, and clinical evidence through RAPID Score™.

Faster, more confident diagnostic decisions

RAPID Score™ — Differential Diagnosis

Ranked candidates

  • Dravet Syndrome

    G40.82

    74%
  • GEFS+

    G40.30

    48%
  • Lennox-Gastaut

    G40.812

    23%
  • Angelman Syndrome

    Q93.51

    15%

Evidence summary

  • Phenotypic Features12 matched
  • Genomic VariantsSCN1A detected
  • Literature Evidence47 publications
04

LONGITUDINAL INTELLIGENCE

Longitudinal Patient Intelligence

Track patient journeys, monitor outcomes, and continuously enrich structured datasets for care, analytics, and research.

Every follow-up strengthens clinical intelligence

Patient Timeline
AS

Ananya Sharma

ID: GEN-2024-041 · Rare skeletal dysplasia

Active

Jan 2023

Initial Visit

Jun 2023

Follow-up Consult

Dec 2023

Diagnosis Confirmed

Aug 2024

Follow-up Due

PENDING

LAST NOTE — DEC 2023

Skeletal dysplasia confirmed. NPRD report filed. Next review in 8 months.

Follow-up due Aug 2024
Schedule

MEASURABLE OUTCOMES

Transforming Clinical Care into Measurable Impact

Deliver meaningful improvements in clinical efficiency, diagnostic confidence, and institutional intelligence.

0%BETTER

TIME SAVED

2-3 hrsMinutes

  • Manual re-entry & HPO searches
  • AI-driven automated extraction
0%BETTER

DIAGNOSIS QUALITY

MemoryRAPID Score

  • Inconsistent, recall-based
  • Evidence-ranked, reproducible
0%BETTER

DATA AVAILABILITY

SiloedRegistry-Ready

  • Zero research output
  • Structured cohort dataset

Enable Smarter Rare Disease Care at Your Center

See how IndiGeneUs.AI helps Centers of Excellence streamline clinical workflows, support faster diagnosis, improve longitudinal care, and generate research-ready data through AI-assisted clinical intelligence.

We'll connect you to our medical team to walk through workflows, integration and a 2-week pilot at your center.

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