The majority of patients with a rare disease lack a clear diagnosis. The possibility to perform exome and genome sequencing has raised hope for a diagnosis for all. Unfortunately experience has shown rapidly that many variants picked up in patients are difficult to interpret if observed in a single patient. Everyone now acknowledges the need to collect large data sets. However, multiple research and clinical laboratories and rare disease consortia collect data independently, resulting in fragmentation of efforts making the aggregation of similar cases difficult.
To address this challenge, a meeting was organized by IRDIRC and the Clinical Genome Resource (ClinGen) program, resulting in the launch of an open collaboration called the ‘Matchmaker Exchange’ in October 2013. Matchmaker Exchange is a collaborative effort to address the common challenge of exome and genome sequencing in both research and clinical settings. It involves a large and growing number of teams and projects working towards a federated platform (Exchange) to facilitate matching cases with similar phenotypic and genotypic profiles (matchmaking) through standardized application programming interfaces (APIs) and procedural conventions.
The Matchmaker Exchange Task Force Steering committee members are:
- Kym Boycott, Children’s Hospital Eastern Ontario, Canada
- Tony Brookes, University of Leicester, UK
- Heidi Rehm, Partners & Harvard Medical School, USA
- Han Brunner, Radboud University Medical Center, the Netherlands
- Ada Hamosh, John Hopkins University School of Medicine, USA
- Bartha Knoppers, McGill University, Canada
- Anthony Philippakis, Broad Institute of MIT & Harvard, USA
The Matchmaker Exchange Task Force has created the Matchmaker Exchange website. For additional information on this initiative, read the article of The Matchmaker Exchange in the Human Mutation Journal or read the article about the Matchmaker Exchange API.