Middle Eastern Genomic Data Still Under-Represented
Opportunities to make precision medicine are still being missed, as a result of the lack of population variation in genomic catalogues.
The ongoing development of precision medicine and genomic technologies relies almost entirely on libraries of genomic data. The libraries illustrate similarities and differences between local, regional and cultural populations, allowing opportunities to truly personalise medical development and therapies. Without that localised data, however, large population groups may be missing out on the opportunities presented by precision medicine.
A recent study in the journal Genome Medicine has identified that this lack of genomic data from Middle Eastern populations, together with other under-represented populations, very much needs more support from national genome projects if those groups are to benefit from future precision medicines.
The research team – based jointly at Harvard University in the USA, and at Mohammed Bin Rashid University of Medicine and Health Sciences in Dubai – looked primarily at 2 key genomic databases: the Genome Aggregation Database (gnomAD), and the genome-wide association studies (GWAS) catalog. The GWAS catalog, the larger, and older of the two databases is very heavily biased towards genomic data from European sources – with over 88% of the data coming from this region. In stark contrast, Middle Eastern populations represent only 0.01% of this database. GnomAD, however, reduces the proportion of European samples to just under half, with Middle Eastern groups comprising 0.8% of the database. The main drawback of this database, though, is that it doesn’t yet cover the full range of possible variations within the DNA. More fully diversifying the data that it covers – catching more of the variation within coding regions of the genome – together with increasing the overall numbers of samples for other under-represented groups, is still needed to avoid missed opportunities.
Gathering data remains a challenge, and to overcome this, education is needed. Legal questions regarding genomic data are ubiquitous globally, though each geographic or cultural population – including the Middle East – has its own cultural and practical issues to solve. Training and education are vital in addressing such concerns, and local sensitivity is vital to this process. Often these go hand-in-hand with the availability of the vital financial and technical resources needed to analyse genomic samples. It’s encouraging, though, that many areas within the Gulf region have begun national genome projects, which are hoped to encourage similar programmes in neighbouring countries, and ultimately more representative genetic data from across the whole region, raising the possibility of true precision medicines for all.