Citywide premarital genomic screening in a Middle Eastern population

Area of Science:

• Genomics
• Medical Genetics
• Public Health

Background:

• Autosomal recessive disorders pose a significant genetic health burden.
• Premarital screening is crucial for genetic counseling and reproductive planning.
• Dubai initiated a novel citywide premarital genomic screening program.

Purpose of the Study:

• To assess the feasibility and clinical utility of a mandatory premarital genomic screening program in Dubai.
• To identify carrier frequencies for autosomal recessive disorders in prospective couples.
• To evaluate the impact of screening results on reproductive decisions.

Main Methods:

• Sequencing of 782 genes associated with autosomal recessive disorders.
• Enrollment of prospective couples through 18 primary healthcare centers in Dubai.
• Analysis of carrier status and homozygous pathogenic variants.

Main Results:

• 8% of 1,000 couples screened were identified as carriers of disease-causing variants.
• Carrier rates were significantly higher than in previous studies.
• 4 couples (2.5%) were incidentally found to be homozygous for pathogenic variants.
• 80% of at-risk couples proceeded with marriage, utilizing reproductive interventions.

Conclusions:

• Citywide premarital genomic screening is feasible and clinically useful.
• The program effectively identifies couples at risk for genetic disorders.
• Genomic screening can inform reproductive choices and reduce the burden of rare diseases.