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 >6,600 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.

Type Website
CME Available No
Cost Free version and Pay version available

Continuously updated; reference material

Date of Resource 2018

Genomic Competencies

Experts from the disciplines listed below have tagged this resource as fulfulling genomic competencies.

Genetic Counselor

  • Genetics Expertise and Analysis
    • 1:   Demonstrate and utilize a depth and breadth of understanding and knowledge of genetics and genomics core concepts and principles.
      • 1a:   Demonstrate knowledge of principles of human, medical, and public health genetics and genomics and their related sciences.