| |
Classic Version |
Health System Enterprise Versions |
Genome-Phenome Analyzer |
| |
Individual use |
Light integration via resource links |
Deep integration via patient record |
Genomic labs and referring MD |
Accurate, fast differential diagnosis and help with test selection
- Clinical features and family history
- Suggestions on most useful findings and tests
- Reopen with previously entered findings already there
- Differential diagnosis with disease probabilities
- Clinical findings ranked by pertinence
- Useful links and disease profiles
- Over 5,500 diseases, including all human Mendelian diseases,
with continual curation and regular updates
- Clinical Reports, including a Patient Summary and Note
|
 |
|
|
|
Deep integration with health system electronic health record
- EHR documentation, editable direct-to-patient-record documentation saves time
- Structured data, automatic generation of structured data and ICD code choices and option for diagnostic codes in partnership with IMO® (Q2)
- API to export to CPOE to accompany orders (Q2)
- Workflow integration with Epic (now) and Cerner (Q4)
|
|
|
|
|
Clinical interpretation in seconds based on analysis of annotated variant table results in clinical context
- Known Mendelian diseases: Causative genes ranked by pertinence with plausible variants highlighted
- Discovery: ranked genes and variants for those with no known human phenotype,
or novel zygosity for gene with known phenotype
- Incidental findings: with choices of individuals and gene types
- Adjustable analysis parameters that can be set as defaults
- Generalized pedigree (unlimited related or unrelated individuals) (Q2)
|
|
|
|
|
New: Rapid clinical workflow generates a Genome Report
- Interpreter can quickly select diseases, findings,
genes and variants for automated report, software shows rationale
- Prognosis table answers “what should I expect?”
- API to reporting platforms
|
|
|
|
|
| Cloud-accessed version |
|
|
|
|
| Locally-hosted and accessed version |
|
|
|
|
