The GA4GH Genomic Knowledge Standards (GKS) Work Stream defines a “common language” to share genetic variation data

10 Nov 2025

GA4GH has developed an animation to convey the mission and vision of the GKS Work Stream.

The Global Alliance for Genomics and Health (GA4GH) has published an animation on the importance of standardising the way we define and share genomic knowledge to improve patient health outcomes.

The animation depicts the vision of the GA4GH Genomic Knowledge Standards (GKS) Work Stream, and is the third piece in a series of animations about GA4GH’s Work Streams.

When a doctor suspects a patient might have a genetic disease, they can test that person’s genome to find differences (variants) that might cause the symptoms. However, it can be challenging to find information about a variant and its associated knowledge. Not only are there huge volumes of information, but also institutions, knowledgebases, and other data sources store information differently. Currently, aggregating evidence is a manual and laborious process, creating what is known as the “interpretation bottleneck.”

The GA4GH Genomics Knowledge Standards (GKS) Work Stream aims to address this challenge by developing a “common language” for computers to describe and share variants. Products such as the Variation Representation Specification (VRS), Categorical Variation Representation Specification (Cat-VRS), and Variant Annotation Specification (VA-Spec) aim to build common data structures that the community can use to facilitate data exchange and re-use. 

In the animation, follow along to see how Elise, a clinical laboratory director, discovers useful information about her patient’s variant to improve her clinical care, thanks to GKS standards. By providing a computable standard for sharing clinically relevant variant knowledge, GKS standards help deliver on the promise of scalable genomic medicine.

Are you interested in learning more about the GKS Work Stream? Attend their upcoming Open House meeting on 19 November at 19:00 UTC. Register for the invite. Please reach out to Work Stream Manager Beatrice Amos with any questions.