SimulConsult, Inc.

Chestnut Hill,  MA 
United States
  • Booth: 517

We empower you to be your best diagnostician


SimulConsult is now launching its popular desktop diagnostic decision support tool as a web application. This new interface works on mobile devices, putting the power of AI directly in your hands whenever you want a “simultaneous consult”. SimulConsult’s software compares patient findings to >6,900 diseases, including the > 3,800 genes with germline changes convincingly associated with human disease, all well-established chromosomal disorders, and many non-genetic diseases in the differential diagnosis of genetic diseases. The user interface is fast and intuitive, so you can get an initial differential diagnosis. Then the AI-algorithms identify the most useful findings (including signs, symptoms, lab test and radiology) results to refine the differential diagnosis, so you can get to the diagnosis quickly and with an efficient workup. SimulConsult software is used by geneticists, genetic counselors and neurologists in 118 countries. It has been shown to reduce diagnostic errors (estimated to average 28% in genetics and 15% across all of medicine) by up to 69% in NIH-funded, published studies and to reduce unnecessary testing (PubMed 5155385, 4339658, 23576414). The Phenome Analyzer by SimulConsult is well-suited to most clinical settings. Clinicians use it in several ways: preparing for a patient visit, after the visit when assessing what they learned and selecting tests, or even during a patient visit to assist in assessing and documenting relevant findings. Clinicians also use it to interpret test results, speed documentation and demonstrate an evidence-based approach that helps achieve reimbursement for testing. It is also useful in interpreting test results, including doing the clinical correlation for loss of heterozygosity analysis using microarray data. For medical professionals who work directly with genomic variant tables and want to analyze them in the clinical context, the Genome-Phenome Analyzer by SimulConsult allows instant importation and analysis, and assistance in documentation and return of results. Visit Booth 517 to learn more and get the ACMG promotional pricing for new your subscription.

 Press Releases

  • Press Release

    March 29, 2019

    SimulConsult announces a new version of its diagnostic decision support tool.  The tool combines the power of curated human expertise and computational artificial intelligence (AI) to empower clinicians in diagnosis and workup of patients.  It is used today in 118 countries.  NIH-funded studies showed it can lower diagnostic errors by up to 75%.

    The new version of the tool being released today has a completely new interface that allows it to run on mobile devices as well as on computers.  It is fast to use and puts the diagnostic power into a clinician’s hands whenever needed.

    The tool is designed by doctors for doctors.  It allows the user to compare a patient with its curated descriptions of diseases.  The tool suggests useful findings (i.e., symptoms, signs and test results) based on the differential diagnosis (the probability-weighted candidate diseases), allowing the iterative approach that is the classic approach used by doctors for effective and efficient diagnosis.  Its database already covers >6,900 diseases, including all well-described chromosomal disorders and all diseases with genes that have germline changes convincingly associated with human disease. 

    In many medical specialties, clinicians do not need much assistance to make diagnoses in their own specialty.  However, genetics includes essentially all specialties, and includes thousands of diseases.  All clinicians, including geneticists, welcome assistance in diagnosing genetic diseases, including the hundreds of new genetic diseases added each year.  In addition, all specialists value the ability to get help with diagnosis in adjacent specialties.  That is why we have built SimulConsult as a single tool across all specialties, so that the differential diagnosis includes both the diseases the clinician is expecting and unfamiliar diseases that should be considered as well.  This makes it easier to identify the relevant specialists, select the most useful tests based on their relevance, cost and the treatability of the diseases. 

    SimulConsult achieves the once-elusive “Explainable AI”.  It automatically documents the justification for the diagnosis.  It also documents justification for testing in a way that is so evidence-based that many insurers are accepting it as justification for reimbursement. 

    Three capabilities differentiate the SimulConsult tool.  One is the iterative model for diagnosis (imagine if your web search would suggest questions helping narrow your search).  A second is the use of time, including onset information for findings and speed of emergence, made possible by detailed curation of information about onset and disappearance of each finding in each disease.  The third is the ability to use pertinent negative findings, made possible by the tool’s detailed quantitative database. 

    The innovative Prognosis Table feature has been shown, in PCORI-funded research, to be valued for its ability to summarize any disease with a table of findings and how each evolves over time.  This is a powerful resource for answering the question from patients and referring physicians “given the diagnosis, what should I expect”.

    The Genome-Phenome Analyzer version of the tool allows the user to import annotated genomic variant tables and then interpret them in the clinical context, answering the questions “which gene abnormalities fit with the clinical picture?” and “given the gene abnormalities found, what clinical findings or tests should I check to distinguish among the suspicious genes?” Copy Number Variants (CNV) can be analyzed together with Single Nucleotide Polymorphisms (SNP).

    For more information and to subscribe, go to  Users who subscribe during the ACMG meeting will get a special discount.