GenomeDiver software to improve 
diagnosis of rare genetic conditions

Genetics are challenging — busy clinicians rarely find time to dig into test reports full of gene names and molecular detail. Genetic testing labs lack the in-depth information that comes from personal knowledge of the patient.

This application bridges that information gap: it allows non-geneticist physicians to answer questions that contribute meaningful information about variants.

The clinician feedback is then processed and transmitted to the lab, where it forms the basis for analysis.

I led a “design sprint” workshop with stakeholders to create the user experience and map out the workflow. Then I designed the user interface and a style guide for the application. I created a public-facing website to explain and promote GenomeDiver. Currently we are in the process of creating a demo version, which will use synthetic genome data to show how GenomeDiver works.

   Above: the GenomeDiver website is a point of contact for people interested in the software, with videos to show the application in use.

   Below:
a schematic of the main steps in the GenomeDiver workflow.

User interface

TEAM

Christian Stolte  LEAD UX DESIGN + VISUAL DESIGN    
Faygel Beren UX DESIGN, JR. PROJECT MANAGER    
Nathan Pearson BIOINFORMATICS LEAD
Kevin Shi  SOFTWARE ENGINEERING    
Gabrielle Bertier PROJECT MANAGEMENT   
Toby Bloom, John Greally  PRINCIPAL INVESTIGATORS