SimulConsult’s Phenome Analyzer is a Diagnostic Decision Support System (DDSS). The company’s mission is to make diagnosis more efficient, while preserving quality, ensuring that each clinician is their best diagnostician.
You may find the Getting Started page helpful. A PDF version of this page with images is available here.
The fundamental tasks performed by the DDSS are as follows:
- Computes differential diagnosis – the ranked list of candidate diseases a patient might have based on the findings (symptoms, signs and test results) you enter.
- Suggests useful findings based on the evolving differential diagnosis.
- Provides contextual links to other resources, including articles, images, etc.
- Reveals the logic so you can assess if you believe it. Compares the entered findings to those in the selected disease.
Entering findings
| Task | Description |
| Basic demographic | Enter the age and chromosomal sex of the patient to get started on the Initial screen. |
| Basic Search (🔍) | Type a finding in the green box, and a list of findings matching that term will appear. Use the Presence menu to add a finding to the PhenoType. |
| Core finding list | Core finding lists of are available in some specialties, like pediatric neurology, but notably not genetics. The lists consist of ~40 findings typically used in referrals in to those specialties. |
| Presence menu | Add a finding to the Patient’s Phenotype using the Presence menu (pull-down menu with a “?”) next to the finding you want to add. You specify, absence or presence, and onset. |
| Family history | Specify the family history under the menu on the Initial screen. |
| Primary, secondary or tertiary | Ignore the incidence of the disease by selecting tertiary. Use when a patient has already had many conditions ruled out or where the disease may be newly described and the incidence not well known. |
| Require finding | When a finding is so striking or intense you want to be sure everything you consider has that finding select require in the pulldown next to the Presence menu. Required findings are shown with a “*”. |
| Links | Click the finding and then click “Links” on the black bar to go to related resources about the finding. |
| Profile | Click the finding and then click “Profile” on the black bar to see all diseases with this finding. |
| Assess | Click the finding and then click “Assess” on the black bar to see all diseases in the differential diagnosis with this finding |
Use of color. Diseases are blue and findings are green in the software.
Pertinent negatives. Diagnoses of exclusion and pertinent negatives are a critical part of genetic diagnosis; the DDSS allows you to specify that a finding is absent.
Diseases in the differential diagnosis
| Task | Description |
| Rule in or out | Click the disease and then click “Rule in or Rule out” at the top of the Dx/Add Findings or Add Tests tabs to comment on findings relevant for considering that disease. |
| Links | Click the disease and then click “Links” on the black bar to go to related resources about the disease. |
| Profile | Click the disease and then click “Profile” on the black bar to see all the findings in this disease at the patient’s current age. Click younger or older to see how the disease emerges over time. |
| Assess | Click the disease and then click “Assess” on the black bar to see the fit between the patient and what the database knows about the disease – this is the reveal of the software’s logic so you can judge if you agree. |
Tools on the Share icon (right-most on black bar)
| Task | Description |
| Save and reopen patient using summary | Save or reopen patient using the PDF summary report, which is both human and machine readable. |
| Save and reopen patient using Patient Summary Text String | You can save or reopen patient using the text string option. |
Tools on the Report Button ( on black bar)
| Task | Description |
| SOAP note (findings only) | Automatically outputs the findings in a SOAP note format, for you to copy and paste into a note. |
| SOAP note (full) | Automatically outputs a full SOAP note format, for you to copy and paste into a note. |
| Summary report (findings only) | Assembles the pertinent positives and negatives, with Human Phenotype Ontology (HPO) codes, without showing differential diagnosis, so it can be saved to the electronic health record (EHR). (Note: traditionally intermediate thinking such as the differential diagnosis is NOT saved to the EHR.) Document is also machine readable. |
| Summary report (full) | Assembles the pertinent positives and negatives, differential diagnosis and most useful tests into a graphical display. Document is also machine readable. |
| Prognosis table | Click on the disease and then select the Prognosis Table. The table characterizes the natural progression of the selected disease. Useful for Patient Education and communication between specialists and primary care once a definitive diagnosis has been made. |