When a doctor worries their patient might have a genetic disease, they can test a person’s genome to find differences (variants) which might cause the disease. The sheer number of variants a person has — around 5 million on average — presents a significant challenge in finding out which variants may impact their clinical care. Even computers struggle to run searches for clinically-important variants because there is no standard language for describing the evidence needed.

The Genomic Knowledge Standards (GKS) Work Stream works to define a common language for computers to describe variants — and the important biomedical knowledge associated with them — that may affect clinical care. As a result, GKS makes it easier for laboratories, researchers, and hospitals to find this information and improve patient health outcomes.