Phenotypic Data Exchange for Genomics and Rare Diseases
A Vulcan HL7 FHIR ® Accelerator Roundtable

Phenotype data is separately coded outside the EHR, delaying diagnostics and decreasing diagnostic rates. We are bringing together a group of stakeholders to discuss phenotypic-based use cases and interoperability challenges between different environments including research and clinical care. This session is intended for clinicians and researchers where detailed, computable, and individual-level phenotypic data is a core part of their use cases.

- Discuss use cases, challenges, and needs for phenotypic information interoperability.
- Explore existing approaches for the creation, extraction, and interoperability of computable phenotypic information between clinical, diagnostic, and research environments. Examples include the GA4GH Phenopackets standard and a developing FHIR-based approach.
- Facilitate collaboration between the different groups and projects aiming to address the needs of our community.

10 am EST
•10:00 – Melissa Haendel – Introduction – Why we need FHIR to support Phenotypic exchange
•10:05 – Valerie Schuhl – Vulcan HL7 FHIR Accelerator introduction
•10:15 – Shahim Essaid & Adam Graefe – Vulcan Phenomics Exchange for Research and Diagnostics Project
•10:40 – Vinnie Ustach & Stephen McGee – Phenotyping Patterns at GeneDx and strategies for understanding and leveraging our data
•11:00 – Mike Plesh – Preparing for Vulcan – Thoughtful deliberation from an aspirational healthcare organization
•11:20 – Break / Open Discussion
•11:40 – Tim Hubbard – Scaling genomic health at Genomics England and beyond
•12:00 – Cornelius Boerkoel – Parsing phenotypic features from the EHR for prioritizing genomic variation and the practice genomic medicine
•12:20 – Srikar Chamala – Enhancing Precision Medicine Delivery with FHIR Phenomics-to-Genomics Standards in Clinical Testing
•12:40 – Closing
1 pm end