1 of 18

A decade of GA4GH�

Peter Goodhand

CEO, GA4GH

2 of 18

A Decade of GA4GH video

3 of 18

4 of 18

GA4GH Timeline

Pre-launch

Building momentum

GA4GH Connect

GA4GH 1st Plenary

London, UK

GA4GH 3rd Plenary

Leiden, Netherlands

GA4GH 5th Plenary

Orlando, USA

GA4GH 7th Plenary

Boston, USA

GA4GH 9th Plenary

Virtual

GA4GH 10th Plenary

Barcelona, Spain

GA4GH 2nd Plenary

San Diego, USA

GA4GH 6th Plenary

Basel, Switzerland

GA4GH 4th Plenary

Vancouver, Canada

GA4GH 8th Plenary

Virtual

2013

2015

2017

2019

2023

2014

2016

2018

2020

2022

2021

73 partners sign a letter of intent to form an alliance

Formal launch of GA4GH

Published Framework for Responsible Sharing of Genomic and Health-Related Data

Formed four working groups

Developed three demonstration projects

Launch of “GA4GH Connect” and Strategic Roadmap

Formation of new organizational structure consisting of eight Work Streams and over twenty Driver Projects

Approved over twenty standards and policies

Over fifty organizations implementing GA4GH standards

5 of 18

Thanking past GA4GH leadership

Original Transitional Steering Committee

Strategic Advisory Board

David Altshuler

Broad Institute, MGH

Martin Bobrow

University of Cambridge

Kathryn North

Murdoch Childrens

Research Institute

Paul Flicek

European Bioinformatics

Institute

David Haussler

University of California,

Santa Cruz

Thomas Hudson

Ontario Institute for

Cancer Research

Kazuto Kato

Osaka University

Bartha Maria Knoppers

McGill University

Elizabeth Nabel

Brigham and Women’s

Hospital

Brad Margus

Genome Bridge

Charles L Sawyers

Memorial Sloan Kettering

Cancer Center

Peter Goodhand

Global Alliance for Genomics and Health

Harold Varmus

Weill Cornell Medicine

Francis Collins

National Institutes of Health

Susan Desmond -Hellmann

Bill & Melinda Gates Foundation

Jeremy Farrar

Wellcome Trust

Eric Lander

Broad Institute

Michael Stratton

Wellcome Sanger Institute

Sharon Terry

Genetic Alliance

Past and Current GA4GH Chairs

David Altshuler

Broad Institute, MGH

Thomas Hudson

Ontario Institute for

Cancer Research

Ewan Birney

European Molecular Biology Laboratory

6 of 18

Evolution of GA4GH

2023

8 Work Streams

30 Driver Projects

2014

3 demonstration Projects

4 Working Groups

7 of 18

Evolution of GA4GH

2017

2020

2023

GA4GH Connect

Strategic Plan launches

Gap analysis identifies three community imperatives

Interoperability and alignment

Implementation support

Engaging with healthcare

and clinical standards

Strategic refresh introduces updates to GA4GH to better meet the three community imperatives

8 of 18

Strategic refresh: how GA4GH works

9 of 18

Staff growth over time

25

20

15

10

5

2014

2016

2018

2020

2022

2024

10 of 18

We started with three host institutions…

11 of 18

…and launched GA4GH Inc. in 2020

12 of 18

The growth of our community

2013

73 partners

sign a letter of intent

2023

500+ organisational

members

13 of 18

We started using Zoom in 2015!

14 of 18

Global Collaborations

International HundredK+ Cohorts Consortium

Beyond One Million Genomes Project

Science Council

Human Pangenome Project (HPP) / Human Pangenome Reference Consortium (HPRC)

IHCC:

●creating a global platform for translational research

●uses DUO standard in the Cohort Atlas

●GA4GH organisational member

G2MC:

●advancing genomic medicine implementation in clinical care

●builds on GA4GH standards and policies to develop a genomic agenda

●GA4GH organisational member

B1MG:

●aims to provide cross-border access in Europe to more than one million sequenced genomes

●using several GA4GH standards, including Beacon and Passports

●GA4GH implementer

CRDSA:

●expands research usage of data from clinical trials

●collaborating to bridge the data sharing gap between genomics and clinical research (e.g., data protection, patient privacy)

ICDA:

●works to overcome barriers in using genetics to better understand the basis of common disease

●formal recommendations include support for GA4GH standards

ELIXIR:

●unites Europe’s leading life science organisations to manage data generated by publicly funded research

●collaborating to build a federated infrastructure for human genomics

●GA4GH Strategic Partner

HPP:

- HPRC works with GA4GH to help stand up HPP, which:

●seeks to improve the human reference genome based on the world’s genetic diversity

●established to make HPRC more globally representative

●GA4GH organisational member

ICODA:

●consortium of leading organisations launched to support rapid development of insights and treatments to combat COVID-19

●GA4GH is a founding member of the ICODA Workbench

WHO Science Council:

●voice of scientific leadership directly advising the WHO Director-General

●chaired by GA4GH Strategic Advisory Board Chair Harold Varmus

●co-planned workshops with GA4GH on incorporating genomics in global health, especially in low- and middle-income countries

PHA4GE:

●guides efforts for sharing pathogen genomic data internationally

●modelled on GA4GH and participating in the GA4GH COVID research community

HGVS:

●merged with HUGO in 2021

●members work to find and understand genomic variation

HVP:

●HVP international project managed by Global Variome (UK), a GA4GH organisational member

●merged with HUGO in 2021

●works to ensure all genetic variation information shared freely

●helped found and continues to support the BRCA Challenge Driver Project

HUGO:

●recently merged with HVP and HGVS (re-integration)

●international collaboration to study the human genome

●GA4GH organisational member

MGI:

●collaboration of leading hospitals and Illumina to advance quality of whole genome sequencing in health care

●aligning with GA4GH standards especially related to Clin/Pheno

●several founding organisations are GA4GH organisational members

WEF:

●international organisation for public-private cooperation

●collaborated on the Breaking Barriers to Health Data project, using DUO standard and GA4GH framework

●hosts the Centre for the Fourth Industrial Revolution, which shapes new policies and strategies in fast-changing areas such as data policy — most recent emphasis on genomic surveillance in LMIC

15 of 18

16 of 18

New Driver Projects: 10 new projects

Biomedical Research Hub

Roche imCORE

EOSC4Cancer

Pending

Genomic Data Infrastructure

Pending

Human Pangenome Project

International Precision Child Health Project

Repository of the International Fetal Genomics Consortium

Qatar Genome

Pending

NIH Cloud Platform Interoperability Effort

BioData Catalyst

17 of 18

2024 Driver Projects: 28 projects total

ClinGen

CanDIG

European Genome-phenome Archive

Genomics England

Matchmaker Exchange

Australian Genomics

Variant Interpretation for Cancer Consortium

Human Cell Atlas

ELIXIR Beacon Project

ELIXIR Cloud & AAI

NCI CRDC

Monarch Initiative

NHLBI BioData Catalyst

Roche imCORE

Genomic Data Infrastructure

Pending

International Precision Child Health Project

Repository of the International Fetal Genomics Consortium

NIH Cloud Platform Interoperability Effort

H3Africa

Autism Sharing Initiative

Human Pangenome Project

ICGC ARGO

Biomedical Research Hub

European Joint Programme - RD

Qatar Genome of Qatar Foundations

Pending

Epishare

EOSC4Cancer

Pending

All of Us Research Program

18 of 18

Audience Q&A Session

ⓘ

Click Present with Slido or install our Chrome extension to show live Q&A while presenting.