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.

Published on October 13, 2022

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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 RareConnect.org. 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

Don't stop there

Interested in learning more? Check out our PhenoTips’ Speakers Series.
A split screen image of Dr. Pawel Buczkowicz, a young adult white man with square glasses and a white dress shirt, and Dr. Ana Cohen, a white adult women with straight brown hair wearing a green dress. Overlaid in the bottom right corner is the PhenoTips Speaker Series logo in white, which is a speech bubble with a DNA helix inside.

Children's Mercy on Ending Diagnostic Odysseys

Clinical/Research Assistant Director of the Molecular Genetics Laboratory at Children’s Mercy’s Center for Pediatric Genomic Medicine discusses Children’s Mercy’s use of PhenoTips in the groundbreaking Genomic Answers for Kids initiative.

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Equitable Access to Rare Disease Care

In the twenty-sixth installment of the PhenoTips Speaker Series, Principal Investigator at the International Laboratory for Human Genome Research (LIIGH), UNAM, Dr. Claudia Gonzaga-Jauregui addresses methods to improve equitable access to rare disease care.
Published on February 23, 2024
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Individuals affected by rare diseases deserve accessible, appropriate care to achieve the highest possible physical, mental, and social well-being. Though advancements in rare disease diagnosis and care have accelerated over the past decade, several challenges still hinder access to equitable, life-changing care for patients and their families. Limited public health awareness, difficulties accessing trained medical experts, treatment costs, and disjointed healthcare systems all contribute to the burden patients and their families must navigate during the diagnostic odyssey.

PhenoTips software supports lifesaving rare disease research and care

Find out how PhenoTips supports groundbreaking rare disease initiatives.
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Dr. Claudia Gonzaga-Jauregui did her undergraduate studies in Genomic Sciences at the National Autonomous University of Mexico (UNAM). She obtained her PhD in Molecular and Human Genetics from Baylor College of Medicine, where she contributed to large population genomic studies such as HapMap 3 and pioneered the analyses of genomic sequencing data for the identification of disease genes and molecular diagnoses. Since then her research has focused on the investigation of human pathogenic and polymorphic genomic variation that contributes to human traits and diseases, with a particular focus on family-based analyses of rare and common genetic disorders to identify pathogenic variation and novel genes associated with disease. Dr. Gonzaga-Jauregui believes that the application and understanding of human genetics and genomics can lead to improved treatments and the realization of precision genomic medicine. Because the beginning of precision medicine is an accurate genetic diagnosis, Dr. Gonzaga-Jauregui has dedicated a great part of her career to the study and identification of novel genes responsible for rare genetic disorders to provide molecular answers to patients with undiagnosed diseases, and has co-authored and co-edited the first textbook focused on the application of genomic approaches to the study of rare genetic diseases.

In this discussion, Dr. Gonzaga-Jauregui addresses:

  • Challenges in improving the accessibility of rare disease care
  • Barriers faced by medical professionals and patients
  • Improving diversity in data sets and ethical considerations
  • Best practices in improving equitability of rare disease care

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Interested in learning more? Check out our PhenoTips’ Speakers Series.
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