For decades, the Middle East has faced a disproportionately high burden of rare genetic disorders, fuelled both by deep-rooted cultural practices and an overreliance on Western genomic data. Fast forward to 2026, and massive genome projects across the Gulf region are attempting to shift the narrative. Backed by immense sovereign wealth and driven by a desire to safeguard their citizens’ futures, several GCC countries are increasingly moving from consumers to shapers of global science. The question now is whether the treasure trove of genomic data being generated can be fully utilised within clinical research and practice, ultimately driving better outcomes for patients across the Arab world and beyond.
From Data…
Since the completion of the first draft of the Human Genome Project over a quarter of a century ago, genomic sequencing has become a routine clinical tool across the Western world. Genomic information now informs clinical decision-making in everything from creating more targeted cancer therapies to diagnosing rare diseases earlier, avoiding the prescription of common medicines to those who are genetically predisposed to adverse drug reactions, and tracking infectious disease outbreaks.
However, there is a critical imbalance in the data generated thus far: 90 percent of genomes sequenced globally belong to Western Europeans or North Americans. The exclusion of other populations (such as Arabs, sub-Saharan Africans, or East Asians) means that genomic data, and the decision-making it leads to, often does not best serve the specific needs of those with varying genotypes and disease profiles.
Long cognizant of this issue, especially due to the high rates of rare and genetic blood, metabolic, and neurological diseases in the region, the Middle East’s most developed countries have been busy developing their own national genomics programmes. “Initiatives such as the Qatar Genome Programme (launched in 2013), the Saudi Genome Programme (2018), and the Emirati Genome Programme (2019) have already generated substantial genomic datasets, reflecting a clear commitment by governments to precision medicine, earlier diagnosis, and a deeper understanding of genetic disease patterns within local populations,” outlines Ahmed Salem, head of the Gulf Cluster for AstraZeneca Rare Diseases.
Qatar, as the first country in the region to engage in population-level whole genome sequencing (WGS), is playing a particularly important role in generating Middle Eastern patient data. A full 96 percent of the genome-wide association studies involving Middle Eastern populations rely on data generated in the country, according to a Harvard research paper. To date, ten percent of the total Qatari population of Qatar (35,000 people) have undergone WGS, while the QGP has also expanded to include long-term residents of Qatar, as well as samples from other Middle Eastern and Arab populations from across the region.
“You cannot claim that you understand the human genome without sequencing representative samples of the whole human race,” expands Said Ismail, founding director of the Qatar Genome Programme and professor at Hamad Bin Khalifa University’s College of Health and Life Sciences. “We therefore felt a responsibility to represent this region and to generate knowledge that could benefit countries across the Middle East that do not yet have access to such technologies, as well as the global scientific community.”
…to Action
Generating more detailed local genomic data is, in and of itself, positive, but the real crunch for the Middle East’s genome programmes is translating this into policy action.
The most immediate ‘return on investment’ for these massive datasets is happening in the delivery room. By integrating genomic insights into newborn and premarital screening, governments are effectively building a biological shield, catching life-altering conditions before the first symptom even appears.
Babies born in Qatar, the UAE, and Saudi Arabia are now tested for a wide range of rare and genetic diseases via a heel prick, supplementing conventional screening for a more limited set of acute conditions. The UAE and Saudi Arabia specifically are transitioning from biochemical screening to Rapid Whole Genome Sequencing (rWGS) for newborns in ICU settings, significantly cutting the time to “actionable” results.
Meanwhile, premarital screening – mandatory for Emirati couples planning to marry in the UAE since late 2024 – tests for 570 genes associated with more than 840 inherited disorders. In a region where consanguinity is a major contributor to genetic disease, this programme aims to inform couples of any risks and ultimately interrupt the cycle of transmission across generations.
Stakeholders from the biopharmaceutical industry are now calling for a more integrated and collaborative approach to unlock the full potential of these datasets across early diagnosis (critical for many rare diseases) and more targeted treatment plans.
“Genomic programmes have advanced rapidly, but the real opportunity now lies in linking these capabilities more systematically to clinical pathways, so that testing, interpretation, referral, and treatment operate as an integrated process,” outlines Mohamed Ezz Eldin, head of the GCC Cluster at Novartis.
“What is now needed is faster translation from data to action,” agrees Biogen GCC Head Diederik Kok. “That requires closer collaboration between hospital-based scientists, academic leaders, and industry research teams, ideally through focused working groups centred on specific diseases. By combining complementary expertise, the region can move beyond data generation toward practical outcomes, ensuring that its growing genomic assets deliver tangible and lasting benefit for patients.”
“The significant investments being made across the Gulf into genomics, screening programmes, and preventive medicine strategies has created a transformative opportunity to shift from late diagnosis to early identification,” adds Hussein Abhari, MENA head of molecular diagnostics player QIAGEN. “The transformation in Saudi Arabia exemplifies this evolution. Previously, only specialised centres like KAIMRC and King Faisal Specialist Hospital conducted screening and diagnosis for rare diseases. With Vision 2030, the government now encourages all institutions and organisations to participate actively.”
There is also far greater potential to leverage this data for research and clinical trials – a field which these countries are all aiming to expand. “When integrated health records are combined with population-level genomics, they create a strong foundation for precision medicine and rare disease research. The tools, governance structures, and regulatory environment are largely in place,” says Khaled Musallam, a globally renowned expert in rare blood disorders, based out of the Burjeel Cancer Institute in Abu Dhabi.
However, as Rania Alshami, chief business and strategy officer at regional contract research organisation PDC-CRO, points out, there is still a long road to travel. “Large genomic datasets now exist, but they tend to reflect national populations and exclude expatriate communities, which in countries such as the UAE represent the majority of residents,” she notes.
“This means a substantial proportion of rare disease patients remain outside formal datasets. Even within local populations, there is a disconnect between genome projects and clinical care. Individuals may be identified with disease-associated mutations years before symptoms emerge, but there is no systematic mechanism to track them over time or link them to research opportunities when disease manifests.”
She concludes, “What is needed is an integrated, multi-omics framework that connects genomic data with electronic medical records, diagnostics, and longitudinal clinical follow-up, supported by a robust consent model that enables research use and trial matching. Disease registries, natural history studies, and real-world evidence must be linked into a single pathway.”
Regardless of these integration challenges, there is a genuine optimism among stakeholders across the region regarding the impact that better use of genomic data can have on diagnosis, treatment, and research, especially for challenging and region-specific rare disorders. “The future is bright,” proclaims the QGP’s Said Ismail. “One-size-fits-all healthcare will be a practice of the past. We are heading toward a place where we will be able to know much more about individuals – both their current health and their future risks for many diseases and thus tailor their healthcare accordingly.”
