New features in the software

The software has two new features: an ability to specify whether a finding is required in a diagnosis and an enhancement to the time of onset model.

Specifying whether a finding is required

You can now specify that some findings are required to be known findings in a diagnosis, while other findings may be either important or just incidental.  Consider a Jewish patient with tremor and profound orthostatic blood pressure changes.  Typically, you will want to focus on diagnoses in which the tremor and orthostatic changes are known features.  Although the Jewish ancestry may be relevant, you don't want to add a strong weight to such information that is likely to be just incidental. 

By default, the software now takes the initial findings entered before seeing the first differential diagnosis to be findings required to be known in the diagnosis.  Other findings entered later, typically in response to suggestions of useful findings, are by default not set as required. 

In the basic version of the software, these distinctions are used but not shown.  Clicking into the advanced version of the software (using the checkbox in the upper right of screens) allows you to see which findings are required (highlighted in yellow) or may be incidental (white), as shown here:

In the advanced version of the software you can change which findings are required using a new part of the popup menu, which appears when you click the presence box to the left of a finding.  For example, you could specify that the orthostatic changes were incidental by choosing "Finding may be incidental (white box)" from the bottom of the popup menu:

Similarly, for a finding such as Jewish ancestry, the option "Finding required (yellow box)" would be active, and choosing it would result in LRRK2-Related Parkinson Disease rising near the top of the differential diagnosis since one of the known mutations in the disease is found characteristically in people of Jewish ancestry.

Enhancement to the time of onset model

A second new feature is support for diseases that can appear at a wide variety of ages.  In a disease such a pseudotumor cerebri, in which the findings tend to occur as a cluster that can begin at a wide variety of ages, the software will find a disease to be a good match if the findings are clustered in time.  But, in a genetic disease in which findings appear at characteristic times, the software will find a disease to be a good match if it fits that pattern.  Thanks to Bradley Schlaggar and Phillip Pearl for pushing us to expand our horizons in this way. 

Opportunities opened up by these changes

These changes allow SimulConsult to expand coverage of diseases beyond genetic syndromes.  There are paid opportunities to contribute material to the database; see the pages under the "Getting Involved" heading in the sidebar on the left of this page for details.