FOR LIFE SCIENCES & RESEARCH

Accelerate Rare Disease Research
with Structured Clinical Data

Transform fragmented clinical information into standardized, research-ready datasets that support registries, natural history studies, and evidence generation.

12 research sites synchronized
Research CohortLive

247

Patients

12

Centers

98%

HPO coded

Natural History StudyLongitudinal
Baseline captureComplete
Follow-up visits186 tracked
Registry exportReady

THE CHALLENGE

Clinical Data Exists. Research-Ready Data Doesn't.

Rare disease research depends on high-quality clinical data, yet every institution captures information differently. Researchers spend months standardizing records before meaningful analysis can begin.

FORMATS

Clinical data arrives in different formats

Clinical documentation varies across institutions, making cross-site research difficult.

HOW GENETICO SOLVES IT

Building Research-Ready Data at the Point of Care

Genetico structures clinical information during routine care, creating standardized datasets that can seamlessly support research, registries, and longitudinal studies.

01

RESEARCH STANDARDIZATION

Standardized Clinical Data Capture

Structured clinical workflows ensure consistent data collection across institutions while remaining adaptable to different research programs.

Consistent datasets across participating centers

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

AI STRUCTURING

Automated Phenotype Extraction

AI converts unstructured clinical notes into standardized HPO terminology, reducing manual effort while improving data consistency.

Research-ready phenotype data from routine clinical records

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

RESEARCH ANALYTICS

Cohort Discovery & Longitudinal Insights

Identify patient cohorts, monitor disease progression, and generate longitudinal datasets for natural history studies and evidence generation.

From clinical care to research insights

Cohort Discovery
Age 2–18HPO: SeizuresConfirmed diagnosisFollow-up ≥ 2 yrs

84

Eligible

61

Enrolled

9

Sites

Longitudinal coverage

  • Baseline visits100%
  • 12-month follow-up78%
  • Registry exportReady

MEASURABLE OUTCOMES

Enabling Better Rare Disease Research

Structured clinical data improves research quality, accelerates study execution, and enables reproducible evidence across institutions.

90%+

Less Manual Data Preparation

Manual abstractionAI-assisted structuring

  • Faster preparation of research datasets
Standardized

Higher Data Consistency

Variable clinical recordsStructured phenotype datasets

  • Comparable data across institutions
Research-Ready

Accelerated Evidence Generation

Fragmented recordsLongitudinal, analysis-ready cohorts

  • Support registries, natural history studies, and collaborative research

Building the Future of Rare Disease Research Starts with Better Data

Discover how Genetico helps research organizations transform fragmented clinical information into structured, research-ready datasets for registries, longitudinal studies, and evidence generation.

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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