Scaling Clinical Genomics: A Standards-Based Approach Accepted by AMIA

I’m proud to share that a paper our team contributed to — “Scaling Clinical Genomics: Automated Standards-Based Annotation of Complex Variants for Precision Oncology” — has been accepted by the American Medical Informatics Association (AMIA).

The work applies GA4GH Cat-VRS and HL7 FHIR Genomics standards to automate the annotation of complex genomic variants and drive clinical decision support — tackling one of the real bottlenecks in scaling precision oncology beyond major academic centers.

Huge credit to Yazna Penmetsa, who led this contribution as an Intersect intern, and to her collaborators Dr. Robert Dolin and Dr. Daniel Puthawala for their guidance. This is exactly the kind of standards-first, interoperable work that helps precision oncology reach the community and rural settings that need it most.

For us, this acceptance is more than a publication. It is external, peer-reviewed validation of the approach at the core of everything we are building — turning a tumor’s complex genomic profile into structured, computable, decision-ready information that can travel to any care setting, not just the ones with a research lab down the hall.