Mapping The Arab Genome

Large-scale genomics and precision medicine are not what most would associate with the Middle East, a region often linked in the media to conflict, oil and desert. However, in the past two decades in the small Arabian Gulf state of Qatar, a sizable investment has been directedtoward creating a regional hub — an oasis — for science and innovation, attracting local, regional and international talent to realize this vision.

In 2015, the first whole-genome sequencing operation in the region was launched in Qatar to study local and Arab genomes and contribute to the global efforts to unravel the secrets of human genomes at large scale.

“In 2015, the first whole-genome sequencing operation in the region was launched in Qatar to study local and Arab genomes”.

Home to more than 400 million people and situated at the crossroads of the three ‘old’ continents of Africa, Asia and Europe, the Middle East is one of the world’s oldest inhabited regions and one that has contributed immensely to human history. The area of the first human settlements and ancient civilizations was also a focal point for ancient human migrations out of Africa to different parts of our globe. Studying the genomics of inhabitants of this region will add central pieces and clues to the efforts to unravel the full map of the plurality of genomes that define the allelic spectrum of the human race.

Most research performed in the past decades is biased toward European ancestries and those from East Asia. Such ‘Northern’ bias is a result of the overall developmental gap and its economic consequences, leading to a lack of research funds and laboratory infrastructure in the Global South. However, there are a few exceptions whereby some countries within this South can bridge that gap. The Qatar Foundation has created centers of excellence where geneticists from the region who have studied or worked overseas can return and work on bridging the knowledge gaps, capitalizing on their training and exposure gained from time at leading international research institutions. Needless to say, reversing the directional flow of the brain drain is not an easy task. Creating a lush ‘Oasis of Science’ and removing obstacles that could curb the ambitions of returning scientists is proving to be key to the Qatar Foundation’s success story.

The Qatar Genome Program (QGP), a member organization of Qatar Foundation Research, Development and Innovation (RDI), is one of the largest efforts to date launched to fill such knowledge gaps on behalf not only of Qatar but of the whole genomically under-represented Middle East region. The QGP seeks to decipher the genetic makeup of these populations and build a solid foundations for the implementation of precision medicine1. Our database currently contains more than 30,000 whole genomes belonging to Qataris as well as to Arabs from all around the Middle East and North Africa. To produce the first wave of groundwork from these genomes, in 2016 we established the Qatar Genome Research Consortium (QGPRC), encompassing around 200 local scientists and their international collaborators².

The vision of this consortium is to enable researchers to mine the wealth of genomic as well as deep phenotypic data collected by the Qatar Biobank (QBB). We believe that the first step is to produce meaningful and robust research findings and that then we can develop, promote and internationally integrate the new knowledge from this large and ethnically rich region into the knowledge base of the global scientific community. We built the first phase of QGP research projects around ten fundamental research questions spanning the spectrum of rare and common genetic variation and designed around studies leading to translational research and serving the national precision medicine agenda.

To promote collaborations and break down silos, we request that all projects have local multi-institutional collaborations, and we also encourage international research partnerships. For example, we signed a Memorandum of Understanding with Genomics England to share knowledge and experience, and many of our researchers joined the Genomics England Clinical Interpretation Partnership (GECIP) domains. We also have onboard in our consortium projects prominent reserachers from Weill Cornell Medicine in New York and the University of Liverpool, to cite just two.

Logistically and operationally, we did not reinvent the wheel, having learned from the experience of our colleagues who had initiated their own large-scale national projects ahead of us, such as those in the UK (the UK10K), the Netherlands (the Genome of the Netherlands), Iceland (Genomes of Icelanders) and other countries.

In parallel with the consortium, we have established, in collaboration with the Qatar National Research Fund, a genomic research funding scheme called the Path Towards Precision Medicine awards. Conscious that a large-scale genomic program should not focus only on research, we also have other initiatives, which include conducting benchmarking surveys of the general public and healthcare professionals to gauge public awareness and attitudes towards genomic medicine and to identify gaps in the healthcare system before comprehensive implementation³. We have also initiated local graduate programs in genetic counseling and genomic medicine, along with various other educational and awareness schemes^1.

Comment

Biobank Meta-analysis Initiative to empower genetic discoveries with specific phenotypes and across ancestries¹³. Locally and in the spirit of our overarching national role, the QBB stepped in to support our partners in the response against the pandemic. Together we managed to contribute not only locally but globally to improving understanding of the virus and the disease it causes. We supported the swift sequencing of thousands of viral genomes, as soon as the disease started spreading, for genomic surveillance purposes and made those available to healthcare authorities and the research community¹⁴. This resulted in a string of the world’s earliest reports on crucial issues such as reinfection and vaccine efficacy against emerging variants, as well as the waning of their effects over time and the need for boosters^15–19. We think the next few years will be an exciting era for genomics, precision medicine and precision health overall. Several countries have been making rapid progress in establishing national genome projects, and the pandemic served to accelerate this, as well international collaboration.

This genomic revolution presages a post-genomic era of brisk progress. However, we should not forget that the scientific community in this region, like many others in similar places, still faces many challenges.

Examples include publication bias, difficulties with recruiting and maintaining talent and, as the case all over nowadays, budget constraints whereby researchers are asked to do more with less. Even in countries with established research infrastructure, research is receiving less funding and less interest from governments. In countries with developing research infrastructure, with only few exceptions, the picture is, unfortunately, far more grim. It is widely agreed that genomics and precision medicine will revolutionize future healthcare. However, this is not a standard product that can be manufactured around specifics within a producer country and then sold as is to a consumer country: fundamental genomic research work must first be performed before precision medicine initiatives can move into implementation. Young scientists in developing countries are key to achieving this, and they should be supported and celebrated. Money is not the only thing they require, however: they also need connections with established research institutes, more chances for publication in top journals and, very importantly, a helping hand from influential established scientists.

Throughout our journeys abroad, we have indeed ourselves been very lucky to come across world-class scientists who guided and inspired us during our PhD or postdoctoral studies: Francois Cornelis, Yusuke Nakamura, Dorret Boomsma, Alan Kingsman and Edwin Southern, to name a few. These experiences gave us the confidence to move back to Qatar and dare to build things and venture into uncharted territories. The support received from Qatar Foundation leadership, QGP colleagues and the wider local research community was extraordinary.

We are happy here and we are committed to our mission.

References

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