Genomics has endless potential, if everyone is included
Michael Dunn, director of Discovery Research, reflects on the findings of this report.
Data and diversity in genomics: landscaping report
This landscaping report outlines the state of diversity in global genomics. It examines the representativeness of human genomic datasets, finding significant variation across countries. It identifies opportunities for funders to make a positive impact.
Report at a glance
This report has been commissioned by the Wellcome Trust and authored by IQVIA.
- Strategic programme:
- What's inside:
- An overview of the current state of human genomic datasets globally; definitions of three levels of ‘genomic maturity’ in different geographical regions; recommendations for enhancing data diversity globally.
- Who this is for:
- Researchers, funders, policymakers
- Creative commons:
Diversity includes recruiting data from underrepresented populations and understanding cultural barriers to participation. It also includes using a diversity lens in data analysis, such as analysing data from sub-populations and addressing data missingness.
Diversity also means cultivating a diverse workforce, reflecting different voices and perspectives. Collaborative networks should be diverse and international.
Summary
Diversity is a significant challenge in global genomics. Genomics projects and datasets worldwide are heavily skewed towards populations with European ancestry. Information linked to socio-demographic status is usually missing.
Improving diversity will benefit global health and scientific progress. This report identifies opportunities for funders to make a positive impact.
Wellcome has a history of funding genomics and genome-related research. This includes large-scale investments in the Human Genome Project and the Wellcome Sanger Institute, and supporting many research teams, resources and projects. This report maps what Wellcome has supported in the genomic data diversity space to date.
The report goes on to detail the current state of human genomic datasets globally. It defines three genomic diversity archetypes for different geographical regions:
- High maturity (e.g. United States, European Union): large database size, focusing on chronic disease etiology research and precision medicine
- Medium maturity (e.g. Japan, Taiwan): medium database size, focusing on regional understanding of genetic factors for disease etiology
- Low maturity (e.g. Brazil, Uganda): low database size, focusing on expanding databases to understand chronic disease etiology
Key findings
Overview of diversity in genomic research
- The majority of initiatives are led by research organisations.
- Most initiatives state that they view population diversity as key to their success.
- Data on region, age, gender and ethnicity is commonly collected.
- Data on education, occupation, income and housing status is not commonly collected.
- Data aggregation is limited in many underserved regions. Africa and Latin America have few regional consortiums, which could impact the utilisation of data into local health systems and policies.
- There is an opportunity to improve sharing and cross-collaboration between regions.
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Methodology and limitations
IQVIA used desk research and surveys to build a diversity profile for 198 initiatives.
- Wellcome and IQVIA consolidated a long list of global genomics initiatives, and identified 440.
- IQVIA prioritised up to 200 relevant initiatives for further desk research.
- The diversity assessment survey received 55 unique responses.
- IQVIA carried out online qualitative interviews with 27 key initiative representatives.
The long list of genomics initiatives used existing data from the IQVIA genomics database and Wellcome’s list of funded initiatives.
Find more details about exclusion criteria and the response rate in the full report.
Conclusion
Maturity of genomics research varies significantly across geographic regions. Each region takes different approaches to diversity and faces different challenges.
High maturity regions are focusing on expanding datasets into minority populations. Medium and low maturity regions are working on building representative databases.
Improving data collection, analysis and utilisation are the keys to increasing diversity. This is not straightforward. There are political, economic, social, technological, legal and environmental challenges to be overcome.
There are, however, opportunities for funders to make a significant impact. The report suggests potential solutions, ranked by priority level.
Recommendations for funders
In high maturity regions, support:
- Efforts to collaborate with minority populations (e.g. indigenous advisory boards)
- Community engagement to assess views on genetic data usage and storage
- Alternative recruitment methods (e.g. mobile blood collection)
- Providing patients with a ‘return on investment’
In medium maturity regions, support:
- Education and training in bioinformatics, database development and data interpretation
In low maturity regions, support:
- Local infrastructure development
- The retention of local talent and expertise
- Education and training in bioinformatics, database development and data interpretation
With global collaborations, support:
- The development and sharing of novel techniques for data analysis and integration
- Collaborations with local research teams in low- and middle-income countries
- Initiatives from low- and middle-income countries to overcome history of data colonialism
- Global initiatives with the set-up of regional centres