Understanding Genetic Risks in Emirati Families

Genetic disorders pose a significant challenge in populations with high rates of consanguineous marriages, a cultural practice common in the United Arab Emirates where close to 30 percent of unions involve second cousins or closer relatives. This increases the likelihood of both partners carrying the same recessive gene variants, potentially leading to children born with severe conditions such as hemoglobinopathies, metabolic disorders, or neurological diseases. In Dubai, home to a rapidly growing Emirati population, public health authorities have long recognized the need for proactive measures to mitigate these risks before families are formed.

The prevalence of autosomal recessive disorders is notably higher in Arab communities due to founder effects—historical genetic bottlenecks—and endogamy. Conditions like beta-thalassemia and sickle cell anemia affect thousands annually, straining healthcare resources and impacting quality of life. Traditional premarital screening focused on infectious diseases and a few blood disorders, but recent expansions incorporate advanced genomics to cover hundreds of genes, marking a shift toward precision public health.

Evolution of Premarital Screening in the UAE

Premarital screening became mandatory in the UAE around 2008, initially targeting sickle cell disease, thalassemia, and infectious conditions like HIV and hepatitis. Administered through primary health centers, it required couples to obtain a fitness certificate before marriage registration. Dubai Health Authority (DHA) and other emirates refined the process, integrating it into digital platforms like DubaiNow for seamless access.

By 2025, under the Emirati Genome Programme and Ministry of Health directives, screening evolved to include whole-exome or whole-genome sequencing for 782 genes linked to over 800 severe recessive disorders. This expansion, driven by falling sequencing costs and local genomic databases, aims to identify carrier status comprehensively. Abu Dhabi and other emirates followed suit, creating a national framework supported by initiatives like Al Amal, which funds IVF and preimplantation genetic testing (PGT-M) for at-risk couples.

• Initial focus: Blood disorders and infections.
• 2025 upgrade: 782-gene panel for recessive conditions.
• Support: Free counseling and reproductive options.

Dubai's Citywide Program: Seamless Implementation

Dubai Health launched its mandatory genomic screening in January 2025, targeting all Emirati couples via 18 primary healthcare centers or the DubaiNow app. Couples request screening digitally, receive educational videos, provide blood samples, and get results within two weeks on average. Samples are processed at the Dubai Health Genomic Medicine Center using NovaSeq platforms for high-coverage exome/genome sequencing.

The gene panel combines 558 UAE-mandated genes (based on disease severity) with 224 population-specific variants from Emirati databases. Variants are classified per ACMG guidelines, with confirmatory testing for complex cases like alpha-thalassemia. Positive findings trigger genetic counseling, where options like IVF with embryo selection are explained. About 1,000 Emirati couples marry annually in Dubai, making the program scalable.

The Landmark Nature Medicine Study: Methods and Scope

Led by Khulood Alblooshi from Mohammed Bin Rashid University (MBRU) and Dubai Health, the study analyzed the first 1,000 couples screened from January to July 2025. Researchers sequenced 782 genes for autosomal recessive disorders, achieving 98 percent success rates and rapid turnaround times optimized to under 12 days for genomes.

Participants, mostly aged 20-29, reflected Dubai's demographics with 32 percent self-reported consanguinity. Sequencing covered coding regions deeply, cross-verified with SNP genotyping for sample integrity. At-risk couples (both carriers of pathogenic/likely pathogenic variants in the same gene) received counseling; surveys gauged perceptions.

Revealing Findings: 8 Percent At-Risk and Diverse Disorders

The study uncovered 79 at-risk couples—8 percent (95% CI 6.4-9.7%)—a rate double Australia's 3.9 percent from a similar but non-consanguineous cohort. Hemoglobinopathies topped the list at 41 percent (32 cases: 21 alpha-thalassemia, 11 beta-thalassemia/sickle cell), but 59 percent involved 33 other genes spanning 51 conditions, including cystic fibrosis, primary ciliary dyskinesia, and congenital adrenal hyperplasia.

Local genes detected 18 percent unique risks, highlighting founder variants like CYP1B1 glaucoma. Notably, 2.5 percent of carriers were incidentally homozygous—affected themselves—underscoring screening's diagnostic value. Consanguinity correlated strongly: 64 percent of at-risk couples shared identical variants.

For deeper insights into the study's methodology and data, explore the full publication here.

Couples' Decisions: IVF Adoption and Program Impact

Of the 79 at-risk couples, 80 percent (63) married, opting for Al Amal-funded IVF with PGT-M—up to three cycles for four children—avoiding affected births. Twenty percent (16) canceled plans, crediting screening for informed choices. Surveys showed 89 percent valued the program, 62 percent supported IVF, though 68 percent felt anxious awaiting results.

Recent reports indicate rising IVF uptake among screened couples, empowering family planning. Dr. Ahmad Abou Tayoun, corresponding author, noted: "This identifies risks early, guiding preventive options like IVF to greatly reduce disease incidence."

Technological Backbone: From Sequencing to AI-Enhanced Analysis

Dubai Health's Genomic Medicine Center leverages Illumina NovaSeq for exome/genome sequencing at 100x/30x coverage, with orthogonal validation for pseudogenes. AI tools aid variant prioritization, drawing from ClinVar, HGMD, and Emirati databases. Digital integration ensures 90 percent results within 14 days, minimizing delays.

• Short-read WES/WGS: Cost-effective, high accuracy.
• Long-read for thalassemias: Resolves structural variants.
• App-based workflow: Education, tracking, counseling referrals.

Public Health Transformation: Reducing Rare Disease Burden

With rare diseases affecting 6-8 percent of births globally—higher in consanguineous groups—this program could slash incidence via prevention. Cost savings from avoided lifelong treatments (e.g., thalassemia transfusions) are substantial, estimated millions annually per emirate. Nationally, UAE's Emirati Genome Strategy integrates screening into precision medicine, fostering healthier generations.

Broader impacts include data for gene panels refinement and equity in access, with free services for nationals. For context on outcomes, see coverage in The National.

Higher Education's Pivotal Role in UAE Genomics Research

MBRU, UAEU, and Khalifa University collaborate with DHA, training genomicists and analyzing data. MBRU's involvement exemplifies how UAE universities drive applied research, from variant databases to AI tools. Programs like MSc Biomedical Sciences produce experts like lead author Khulood Alblooshi, bridging academia and healthcare.

This synergy positions UAE as a genomics hub, attracting talent and funding for rare disease studies.

Global Benchmarks: UAE Leads in Consanguineous Contexts

Saudi Arabia's 2004 program halved thalassemia births via targeted screening. Israel's Dor Yeshorim screens Orthodox Jews anonymously. Australia's Mackenzie Mission (non-mandatory) hit 3.9 percent at-risk. Dubai's 8 percent reflects consanguinity but shows higher yield, informing scalable models for Qatar, Kuwait.

Navigating Challenges: Ethics, Counseling, and Equity

Challenges include counseling overload, anxiety (68 percent reported), and panel gaps (e.g., non-coding variants). Ethical issues like stigma are addressed via confidential digital delivery and non-directive counseling. Equity ensures free access, with expansions to residents planned.

Stakeholders emphasize education: 88 percent of providers recommend expansion.

Future Outlook: National Rollout and Innovations

UAE aims for full Emirati coverage by 2030, integrating polygenic risks and newborn screening. Innovations like long-read sequencing and AI will refine panels. Success metrics: reduced disorder births, cost savings, empowered families. As Dr. Abou Tayoun states, it's a "transformative opportunity" for rare disease prevention.

Couples planning marriage can access screening via DHA centers or apps, starting informed journeys.

Photo by Nelemson Guevarra on Unsplash