Global Commission

to End the Diagnostic Odyssey for Children with a Rare Disease

Year One Report:

In February 2019, the Global Commission announced actionable recommendations addressing distinct challenges within rare disease that technology is uniquely equipped to solve. The recommendations identify concrete policy and technological actions, mobilizing diverse actors to build on genetic and digital advances. View the full report here.

Pilot Programs

Multifactorial Machine Learning to Recognize Symptom Patterns

Summary

Digital tool that uses artificial intelligence to support frontline providers by recognizing symptoms and expediting patient diagnosis.

Location

Foundation29, Madrid, Spain

Technology Utilized

Multifactorial machine learning algorithms

Diagnosis Barrier Targeted

Difficulty in linking disparate symptoms to make a rare disease diagnosis

Progress

Foundation 29 has found initial performance for the tool, Dx29, to be high and has confirmed the value hypothesis. Analysis using only symptoms was found to be accurate in 79% of inherited diseases.

Enable Collaboration Tools for “Intelligent Triage” and Clinical Geneticist Virtual Panel Consultation

Summary

Digital collaboration tools to deliver genetic counseling remotely to patients

Location

Children’s National Hospital, Washington, DC, USA

Technology Utilized

Asynchronous physician consultation app, telemedicine technology

Diagnosis Barrier Targeted

Time and cost incurred by the patient through in-person consultations

Progress

The Global Commission has begun to leverage virtual communication tools to increase access to genetic counselling, and to reduce the time and cost burden to the patient for in-person consultations.