The GA4GH Clinical & Phenotypic Data Capture Work Stream standardises patient data capture to advance disease treatment

25 Feb 2025

GA4GH has developed an animation to demonstrate the positive impact of standardising the way researchers describe and share phenotypic and clinical data.

The Global Alliance for Genomics and Health (GA4GH) is pleased to debut an animation to demonstrate the importance of standardising the way researchers and healthcare professionals describe and exchange phenotypic information, family health history, and clinical findings. 

The animation illustrates the vision of the GA4GH Clinical & Phenotypic (Clin/Pheno) Data Capture Work Stream and is the first in a series of animations that will explore the impact of GA4GH’s eight Work Streams.

Clinics, labs, and institutions store patient information differently, inhibiting analysis of the data.. The Clin/Pheno animation follows the journey of Mohinder, a clinician who treats patients with cancer, and Ana, a cancer researcher. Products developed by the Clin/Pheno Work Stream, with subtle references to Phenopackets and the Pedigree standard, help Ana and Mohinder learn new insights to drive better treatments for patients.

“The amount of data in the world is incredible. We have genomic data, ontology data, health data, phenotypic data, and much more. The work of the GA4GH Clinical & Phenotypic Data Capture Work Stream is vital to generate the standards needed to safely and efficiently share this information and derive useful insights,” said Mónica Muñoz-Torres, Co-Lead of the Clin/Pheno Work Stream and Associate Professor at the University of Colorado Anschutz Medical Center.

To celebrate the launch of the animation, GA4GH hosted a Clin/Pheno Work Stream showcase on LinkedIn. Individuals representing EMBL’s European Bioinformatics Institute, the European Joint Programme on Rare Diseases, the Pan-Canadian Genome Library, the Monarch Initiative, and the Global Genomic Medicine Collaborative shared the impact of implementing Clin/Pheno products.

Clin/Pheno aims to accelerate the use of genomics in medicine to support precision health. Benjamin Berk, Clin/Pheno Work Stream Co-Lead and Chief Clinical Informatics Officer at CareEvolution, said, “We’re seeing that clinical data accessibility is maturing, and emerging tools in machine learning and large language models (LLMs) are opening up new avenues for data aggregation and analysis. GA4GH is in a unique position to bridge the worlds of phenotypic and genotypic data to advance research, support medicine, and improve the lives of patients across the globe.”

Interested individuals can learn more and get involved with the Clin/Pheno Work Stream. Please reach out to Work Stream Manager Beatrice Amos with any additional questions.