Clinicians can get a "simultaneous consult" about their patient's diagnosis using SimulConsult's diagnostic decision support software.
Using the free "phenome" version, medical professionals can enter patient findings into the software and get an initial differential diagnosis and suggestions about other useful findings, including tests. The database used by the software has > 5,500 diagnoses, most complete for genetics and neurology. It includes the genes with convincing human disease phenotypes in OMIM and the diseases in GeneReviews. The information about diseases is entered by clinicians, referenced to the literature and peer-reviewed by experts. The software takes into account pertinent negatives, temporal information, and cost of tests, information ignored in other diagnostic approaches. It transforms medical diagnosis by lowering costs, reducing errors and eliminating the medical diagnostic odysseys experienced by far too many patients and their families.
Using the "genome-phenome analyzer" version, a lab can combine a genome variant table with the phenotypic data entered by the referring clinician, thereby using the full power of genome + phenome to converge quickly on a diagnosis. An innovative measure of pertinence of genes focuses attention on the genes related to the clinical picture, even if more than one gene is involved. The referring clinician can use the results in the free phenome version of the software, for example adding information from confirmatory tests or adding new findings that develop over time. For details, click here.