Building Integrated Workflows for Rare Disease Diagnosis

In the twenty-first installment of the PhenoTips Speaker Series, PhenoTips’ Interoperability Specialist, Charles Keenan, and CEO and leader in the development of interoperability standards, Dr. Orion Buske, discuss harnessing interoperability to advance rare disease diagnosis.


With over 6,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey. However, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights.

Dr. Orion Buske holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking, leading the technical working group of the Matchmaker Exchange as well as the redevelopment of Throughout his career he has also led the technical developments of both PhenomeCentral and PatientKind. In addition to his work building interoperable workflows for genomic medicine as Chief Executive Officer of PhenoTips, Dr. Buske remains an active member of the Global Alliance for Genomics and Health (GA4GH) where he co-leads the Pedigree Standards stream of the Clinical & Phenotypic Data Capture working group.

PhenoTips’ Interoperability Specialist Charles Keenan is dedicated to building health technology products that easily share information among systems and providers, helping clinicians realize unprecedented health outcomes in our digital world. While working in genomics and opthalmology, Charles was inspired to pursue a Master's in Health Informatics from the University of Toronto after experiencing first-hand the frustrations caused by healthcare technology for both patients and providers. Charles holds a BSc in Life Sciences and hopes to realize the future of genomics through leveraging new technology that builds communication between systems.

In this panel discussion, Dr. Orion Buske and Charles Keenan address:

  • How PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflows
  • The role of interoperable data in improving diagnostic outcomes
  • The application of structured pedigree and phenotypic data in diagnosis
  • Recent rare disease projects across the US, UK, and Canada

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