Learning to use

Phenome Analyzer: how to use

UI video: Fast

UI video: Thorough

  • Add initial information including age and sex, and optionally care setting (primary, specialist, tertiary), emergence speed, family history in a few clicks, and whether disease onset is considered.
  • Add one or more findings (sign, symptom, lab result). Initially this is done by search or lists of common findings in particular specialties. Each finding can have onset at a particular time, be present by a particular time, present with onset unknown or absent.
  • Examine the differential diagnosis, and use suggestions of useful findings to add, typically starting with clinical findings and then moving on to add tests. The useful findings are ones that best distinguish among the diseases in a way that takes into account treatability and cost (and after clicking on one disease to make it active an option “Rule in or out selected disease” appears, allowing you to get an analysis that is more focused). The evolving differential diagnosis is show on the left of these screens.
  • The software uses color to convey meaning. Diseases and their probabilities are blue and findings and their usefulness or pertinence are green.
  • When a disease or a finding is selected, it is considered active, and various options now refer to the active element.
  • Click on a disease to make it active and then use other screens to get more information:
    • Assess: describes the rationale for why the disease is ranked as it is in the differential diagnosis (achieving the “explainable AI” that is key to an information too being helpful to clinicians.
    • Profile: shows the findings in the disease.
  • Click on a finding to make it active and then use other screens to get more information:
    • Assess: shows the frequency of the finding in the diseases in the differential diagnosis.
    • Profile: shows the diseases that have this finding.
  • Click Tips to get outside material about the active finding or disease, including GeneReviews, OMIM, images, and even percentile calculators for measurements such as head circumference, stature and weight.
  • Get outputs:
    • Chart note template
    • Summary report PDF that shows the key displays and can be read to re-load the patient with the findings and settings you have already entered.
    • Prognosis table for the active disease

More details are in the attached PDF