The link23 launch event took place last month on 29 March 2023. But fear not if you missed it! We have you covered with both a recording of the event and a short summary of what it was about.
The launch event “the power of partnerships in improving equity in genomics“ was to let people know about link23, its purpose, how it plans to help towards ‘making genomics tools that work for everyone’ and how you can get involved. Among the key goals of link23 are to spread knowledge about tools that can support greater equity in genomics and to bring together a global community of individuals interested in and committed to improving equity in genomics. Therefore to get a flavour of what link23 is about, in addition to a presentation from the link23 organising team, there was also a talk from a guest speaker on a tool for supporting greater equity in genomics, and a group panel discussion on the theme of genomics and equity.
The link23 launch: why, and what is link23?
link23 is a community-driven global initiative focused on promoting equity in genomics. Its strapline is ‘making tools that work for everyone’.
Why link23? Because there is a growing recognition that genomic medicine and research doesn't equally benefit all people in society. Accordingly, there has been a greater drive towards improving equity in genomics which has seen increasing focus on generating more diverse datasets as well as addressing structural barriers and impediments to greater equity. While these efforts are still very much needed they will also take time to address. In the meantime there is a gap in providing the very practical solutions and attention to behaviours that could support people across the field right now to do more equitable work. So link23 aims to create, build, implement and scale practical solutions and resources that the genomics community and researchers can use, now, to help ensure that their work is as equity-enhancing as possible.
link23 was founded last year with input from the wider genomics community. Its founding partners (through funding, in-kinda support and key infrastructure) are Genomics England, Data Science for Health Equity, and the Alan Turing Institute. link23 currently has three main strands of activity with- partnerships and collaborations, tools and resources, and building a global community.
Since its launch in late 2022 the initiative has been working on establishing an organising team, scoping goals for 2023, engaging with potential partners to explore ways of collaborating, and starting to curate existing tools and resources that could support greater equity in genomics.
Over the next few months, the plan is for link23 to deliver its strategic action plan for the year, to build out a ‘toolbox’ of tools and resources for supporting greater equity, to host tool showcases, run some partner challenges, and to grow and nurture a global community with a shared interest in this cause.
Want to get involved in link23?
If you're interested in participating in link23, regardless of how deeply or minimally you'd like to be involved, we’d love to hear from you. Participating can be anything from staying updated to sharing your feedback, sharing ideas of tools to add to the toolbox, participating in future events or workshops, joining a virtual global community, or perhaps joining the organising team or partnering. There’s more on partnering here. A recording of the hour-long link23 launch event is available above. In a hurry? - Below is a written summary of what else was covered at the launch including a presentation on the GWAS Diversity Monitor and a panel discussion on making genomics more equitable. With thanks to all our speakers on the day.
Tools for supporting greater equity in genomics - example, the GWAS Diversity Monitor
As part of the initiative’s tooling efforts, over the coming months link23 wants to showcase a range of tools for enabling greater equity in genomics (get in touch if you’d like to showcase a tool you’ve been working on). One of link23’s early tooling partners are the team behind the GWAS Diversity Monitor, which Charles Rahal (Leverhulme Centre for Demographic Science, University of Oxford) gave a presentation on, titled: “Monitoring Diversity across GWAS in Pseudo-Real Time”.
Genome-wide association studies (GWAS) are observational studies that use large datasets to identify relationships between single nucleotide polymorphisms (SNPs) and traits of interest. There has been a massive increase in the number of GWAS studies conducted since some of the first papers were published in 2005. However, the majority of GWAS studies conducted to date have been on populations of European ancestry. This not only reduces the clinical value of these studies for other populations (of non-European ancestry) and exacerbates existing health inequalities, but it can also limit discoveries that would ultimately be to the benefit of all populations..
So the GWAS Diversity Monitor was developed to help shed light on this problem in a way that can constructively help inform stakeholders in the field e.g. researchers or funders. This tool dynamically updates its dashboard showing the diversity of participants in GWAS studies by checking a resource known as the GWAS Catalog daily and providing real-time analysis of what is happening in the GWAS literature. The tool is publicly available and licensed for anyone to contribute to. Its main goal is to provide dynamic accountability for everyone in the genomic community to reflect on the lack of diversity and consider what might be done going forward. One of the next areas of focus for the GWAS Diversity Monitor is to consider the role of funders in the GWAS landscape. Around 83% of GWAS funding comes from the US, and 15% from the UK. So while monitoring diversity in GWAS is necessary to reflect and consider the changes overtime, monitoring alone is insufficient itself to enact change. The team have been working on features that will allow funders to see the portfolios of funded research they are contributing to and how that portfolio of research is or is not always diverse.
Global panel discussion on making genomics more equitable
Next the launch event featured a panel discussion with experts from different backgrounds in genomics who shared their thoughts on the current state of diversity within genomics research, as well as their ideas on how to improve the situation.
The panel featured;
Dr Ekin Bolukbasi - Wellcome, Data for Science and Health
Prof Collet Dandara – University of Cape Town
Prof Jie Zheng - Shanghai Jiao Tong University School of Medicine, Ruijin Hospital.
Dr Janeth Sanchez – All of Us Research Program, National Institutes of Health
Ekin, from the Wellcome’s Data for Science and Health team, noted that data and technologies don’t exist as neutral tools and existing genomics datasets are skewed towards populations of European ancestry. Wellcome have played a substantial role in genomics research over many years, supporting research and resources in genomics within the UK and globally. To inform future funding and partnership efforts, Wellcome are working towards a big global landscaping piece to provide a holistic picture of the current state of representativeness of datasets globally to help inform where Wellcome could invest their future efforts.
Collet emphasised the need to study African genomes, which contain great genetic diversity accumulated over 300,000 years of modern humans. He underscored the enormous diversity across the African continent. However, less than 2% of human genomes that have been analysed are of African ancestry. Purposely decoding African genomes is not only beneficial for African populations but also for the rest of the world's populations. Collet highlighted the value of more purposeful sampling of African populations across the diversity of the continent to contribute to global health.
Jie, who is working on building large-scale biobanks in China, including GWAS and ‘omics datasets, noted that greater diversity in sampling would support populations of all ancestries. He emphasised that in genomics, ancestries are not separate, but continuous, and more diverse sampling would increase the chances of finding true "causal" genes, true drug targets for people around the world, and achieving more personalised medicine.
Janeth, from the NIH’s All of Us research program, highlighted the need for actionable policies that can benefit the diverse populations contributing their data. She emphasised the importance of engaging and building trust with underrepresented communities many of whom have experienced discrimination and abuse in the past. This includes involving these communities in research and ensuring that they have a seat at the table. Capacity building is also critical, including research capacity building as well as programmatic and technical capacity building to achieve equity-driven approaches.
While the panel highlighted the need for improving data diversity, they underscored a range of other priorities including:
combining tools with data
involving multidisciplinary genomics stakeholders, including policymakers, public engagement experts, patient groups, and technical experts
training of people from Africa and capacity building in genomics there
accountability and actionability in creating diversity within datasets, with a sense of commitment and responsibility towards participants and communities
Finally with reference to link23 it was highlighted that link23 could help promote a community of sharing, not just of information but of innovative approaches and best practices to be able to address some of the challenges discussed.
Wrap-up
Chris Wigely, CEO of Genomics England (who are one of the link23 founding partners), provided some concluding remarks. Importantly, he emphasised that if we don't have data sets which are representative of the communities that they are intended to serve then things go wrong. Yet getting datasets to a place where they reflect the communities they intend to serve will take time. Therefore an initiative like link23 is key to helping to create and share tools that can mitigate the impact of the diversity challenge in the meantime.
FInally, he noted the importance of collaborating in a way that’s 'emotionally inclusive’, keeping each other honest, providing challenge - yet being supportive, and learning together.
— And it’s in that spirit of collaboration and learning together we invite you to get involved in the link23 community.