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

GenomeDiver shows clinicians a list of symptoms and traits, derived from genome analysis, that they sort (drag + drop) into three categories: present, absent , or unknown. This informs a list of likely diseases for the physician to review, before everything is sent to the genetic testing lab.

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TEAM

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