Clinical decision support for rare disease.
GENA 3.0 helps clinicians reason through hard cases. Enter a patient's findings and get a ranked differential diagnosis, the evidence behind each candidate, and the next step most likely to narrow it down. Use it as a web app or inside your EHR.
What GENA 3.0 does for a case
A ranked differential
Candidate diseases from 30,408, ordered by how well they fit the patient's present and absent findings.
The reasoning, shown
A plain-language rationale for each candidate and an evidence graph linking the patient's findings to each disease.
Cited disease summaries
Short summaries of each candidate disease, with citations, so you can check the source.
The next best step
Suggested findings and tests that would best separate the leading candidates, and an AI consultant to discuss the case.
Fits into your workflow
- Web app. Sign in and work a case in the browser.
- Inside the EHR. GENA 3.0 is EHR-ready through SMART on FHIR, with a FHIR-compliant API, so findings can come from the chart instead of being typed in again.
- Built on a shared language. Findings are expressed in the Human Phenotype Ontology, the standard used by genetic testing labs and rare disease researchers.
Start with the free tools
Not ready for a full case? The free GENA Labs tools show how the pieces work, with no account:
- PhenoLens: clinical note to HPO codes.
- Gene Standing: does the evidence support this gene–disease link?
- ICD-10 Map: which ICD-10-CM code a rare disease uses, and what it loses.
GENA 3.0 is decision support. It does not replace clinical judgment, and the clinician remains responsible for the diagnosis and care.
Common questions
What is clinical decision support?
Clinical decision support (CDS) is software that gives clinicians patient-specific information at the point of care, such as a ranked list of possible diagnoses with the evidence behind them, to support their own judgment.
Who is GENA 3.0 for?
Clinicians working up patients with complex or unexplained presentations where a rare or genetic disease is possible.
Does GENA 3.0 integrate with our EHR?
Yes. GENA 3.0 is EHR-ready through SMART on FHIR and offers a FHIR-compliant API. It can also be used on its own as a web app.
Does GENA 3.0 replace clinical judgment?
No. It ranks and explains possible diagnoses so you can review them faster. The clinician decides what to test and makes the diagnosis.
How do I get access?
Use the Open GENA 3.0 button on this page to request access.
See GENA 3.0 on your own cases.
Ranked differential, rationale, citations and next workup, in a web app or inside your EHR through SMART on FHIR.
Open GENA 3.0- Ranked differential across 30,408 diseases
- Evidence graph linking findings to diseases
- Disease summaries with citations
- AI consultant for the case
- Suggested next workup
- EHR-ready (SMART on FHIR)