Global Alliance for Genomics and Health

In recognition of #RareDiseaseDay, the GA4GH Rare Disease Community of Interest held a webinar to explore progress made in rare disease data sharing and potential collaborations. The recording is now available online: https://hubs.li/Q038R5jb0

GA4GH Inc. welcomes four new Board Members! Krystal Tsosie (Arizona State University), David Glazer (Verily), Arcadi Navarro (Universitat Pompeu Fabra and Centre de Regulació Genòmica), and Patrick Tan (Precision Health Research Singapore) have been appointed to the Board of Directors of GA4GH, Inc. to help guide the strategic direction of the Global Alliance for Genomics and Health. Read more in the press release here: https://hubs.li/Q038DxQz0

Happening tomorrow: special webinar to celebrate Rare Disease Day! Daria Julkowska, Coordinator of the European Rare Diseases Research Alliance, Charlene Son Rigby, CEO of Global Genes, and Heidi Rehm, Chair of GA4GH, will share their perspectives on driving innovation, fostering collaboration, and empowering patient communities in the rare disease space. Hosted by the GA4GH Rare Disease Community, the webinar will focus on collaborative efforts to advance rare disease knowledge and enhance global strategies for patient engagement. Attendees will learn about the work of the GA4GH Rare Disease Community, ways to get involved, and how the community intersects with the needs of international rare disease initiatives. Register here: https://hubs.li/Q038n-S90

We are pleased to share GA4GH’s inaugural Annual Report. Join us in celebrating and reflecting upon the successes the community achieved in 2024. The Annual Report documents progress made in advancing responsible, broad, and democratised use of genomic and related health data. Together, we have built standards that power real-world implementations and fostered groundbreaking collaborations. We invite you to explore the Annual Report: https://hubs.li/Q038cJ9W0

We invite the community to suggest speakers for the GA4GH 13th Plenary meeting in Uppsala, Sweden. This year's Plenary meeting will focus on the following themes: - Genomics in clinical practice - Real-world implementation of GA4GH standards - Global and regional perspectives on data sharing - The future landscape of genomic data sharing - Cost-benefit analysis of data sharing - European health data sharing - Applications of artificial intelligence (AI) and machine learning (ML) for genomics and global health Submissions are due on 10 March 2025. Please note that submission of this form does not guarantee a speaking opportunity. The 13th Plenary Programme Committee will review all submissions. Suggest a speaker: https://hubs.li/Q0381dtR0

This week, we were excited to showcase the impact of the GA4GH Clinical & Phenotypic (Clin/Pheno) Data Capture Work Stream. Clin/Pheno is working to standardise the way clinicians and researchers describe, store, and exchange data about phenotypes (observable traits), family health history, and clinical findings. The Work Stream is striving to advance genomics and health research to improve patient care and health outcomes. To learn more and get involved, visit the following links: Learn about Clin/Pheno's vision: https://hubs.li/Q037k5wm0 Get involved with Clin/Pheno: https://hubs.li/Q037j_vx0 Learn about Phenopackets: https://hubs.li/Q037jWx80 Learn about the Pedigree standard: https://hubs.li/Q037k8Hh0 Stay tuned for upcoming Clin/Pheno workshops and events! Have questions? Reach out to Work Stream Manager Beatrice Amos.

We are also excited to have a special message from Clin/Pheno Work Stream Co-Lead Benjamin Berk MD (CareEvolution): “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. I am excited to collaborate with my fellow Co-Lead Mónica Muñoz Torres and the rest of the Clin/Pheno Work Stream to drive these efforts forward. Another core product that the Clin/Pheno Work Stream develops is the Pedigree standard for family health history, which aims to document larger and more complex family structures in a standard way. Efforts are underway to move this tool through the GA4GH product approval process and to pilot it in real-world scenarios. I am also excited to be involved in a new Cross-Work-Stream effort to explore the intersection of genomics and LLMs. We invite all interested parties to learn more and get involved with the Clin/Pheno Work Stream!" https://hubs.li/Q037jVjk0

The work of GA4GH is carried out by a global network of contributors, who are led by Work Stream Co-Leads. Together, GA4GH Work Streams advance responsible, broad, and democratised use of genomic and related health data. We are delighted to share a special message from Clin/Pheno Work Stream Co-Lead, Mónica Muñoz Torres (University of Colorado Anschutz Medical Campus): "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. Having been involved in GA4GH for many years now, I am excited to continue advancing our work to make phenotypic and clinical data more computable, alongside Co-Lead Benjamin Berk MD. One of the core products of the Clin/Pheno Work Stream is Phenopackets — a human and machine-readable way to exchange information about a patient's medical and phenotypic information. To learn more, I invite you to check out an educational webinar we hosted with Global Genomic Medicine Collaborative (GGMC) this year!” https://hubs.li/Q037k6mp0

We conclude our Clin/Pheno showcase with Grant M. Wood, FHL7 (Global Genomic Medicine Collaborative (GGMC)), who spearheads efforts to standardise family health history and pedigree data — crucial for informing patient care. This has led to the development of the GA4GH pedigree standard, a joint initiative with other standards organisations, such as HL7.

Jules Jacobsen (The Monarch Initiative) delves into how Phenopackets has helped reduce the friction of interoperability between different software applications, providing a simple and portable structure to share human phenotypic information.