The issue of increasing diversity in genomic data is gathering ever more attention. It was a hot topic for discussion at the recent Festival of Genomics in London, UK, from the opening keynote lecture by Professor Mark Caulfield, chief scientist of Genomics England to discussion sessions during the event.
Earlier this month, a review of genome-wide association studies (GWAS) came out from the University of Oxford, showing that despite an increase in sample sizes, genetic datasets were still predominantly comprised of European ancestry – an issue that we’ve been working hard to address over the past five years. You can read the full paper online here.
The researchers’ analysis revealed that the proportion of European ancestry samples has fluctuated considerably over the years, reaching as high as 91% in 2016 and as low as 72% in 2012.
In 2008, not a single genomic study included participants of African ancestry.
Strikingly, 72% of genomic discoveries have been made from participants in just three countries – the UK, the US and Iceland – despite the fact that three quarters of the world’s population lives in Africa and Asia.
This matters, because that’s three quarters of the world’s population that could miss out if gene-based medicines and diagnostic tests are developed using data that is based mainly on European populations.
While the situation has improved in recent years, there is much more work to be done in this area. This is precisely why we started our company – to address these disparities and ensure that genomics and precision medicine are available to everyone, wherever they live and whatever their background.
The Oxford team set out ten recommendations for future direction in this area, clearly highlighting the need for a multi-faceted approach.
Their first recommendation is arguably the most important: prioritise the inclusion of multiple types of diversity.
The authors argue that researchers, editors, funders, and commercial companies need to “prioritise the inclusion of multiple types of diversity in data, namely: ancestral, geographical, environmental, temporal and demographic, and recognise the impact that this lack of diversity has on research findings.”
Everyone in the global genomics community needs to involved here, from researchers and journal editors to funders and commercial companies. Funding bodies in particular have the power to apply conditions to awarding research money, and to monitor progress in this area.
Our Head of Strategic Partnerships, Paul Matthews, agrees. “Funders and researchers seem content to keep using the same datasets, and diversity won’t improve until changes are made to ensure the inclusion of participants from a wider range of populations.”
Another key recommendation is around increasing the involvement of local participants and researchers when collecting genetic material and biodata. Even where efforts are made to include underrepresented communities in such research, problems can arise when such groups don’t feel adequately consulted on what will happen to their genomic data.
We believe that collaborations with institutions and companies in partner countries are the best way forward in tackling this issue and ensuring local representation.
In March last year, we launched an India-US partnership to create India’s largest DNA sequencing programme, while in November 2018, we announced a collaboration with the University and government of Namibia to bring genomics and precision medicine to the country.
Data sharing and privacy also have a huge impact on genomic research. But although many scientists across the globe have embraced open data initiatives, other countries have taken steps to restrict data sharing. Regulation has an important part to play in setting standards for genetic exploration, but programmes in individual countries have tended towards fragmentation, highlighting the need for an international joined-up approach.
The Oxford review highlighted a striking lack of transparency and inconsistency in describing basic data sources or additional sample restrictions utilised in many papers. Differing data protection regimes – such as the European Union’s General Data Protection Regulation (GDPR) and member states’ interpretation of these rules, or Chinese restrictions on the transfer of genomic data outside the country – have also caused problems for international research and cross-border collaboration.
To solve this challenge, we are in discussions with other countries that are underrepresented in genomic databases and we’ll be announcing more partnerships soon.
We are also proud to be part of the UK Bioindustry Association (BIA) Genomics Committee, launched last year. The Committee will act as a leadership platform to discuss common issues of concern among genomic businesses, including data usage and embedding genetic medicine in the UK National Health Service (NHS).
It is becoming impossible to ignore the fact that current genomic datasets are not sufficiently diverse to deliver adequate precision medicine to the majority of the world’s population.
There are huge gains to be made from investigating the potential of the global genome, and we hope to make real progress over the coming years.
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