Overview 

The prevalence of consanguineous marriages in Qatar has led to a higher incidence of genetic disorders, highlighting the need for targeted genetic screening initiatives. In response, an Expanded Reproductive Genetic Screening program is being developed to address these challenges and reduce the healthcare burden associated with genetic diseases. Central to this initiative is the Q-Scan, a custom-designed SNP genotyping microarray built using genomic data from the Qatar Genome Program (QGP) and Middle-East-specific knowledge bases. The Q-Scan is designed to detect genetic mutations prevalent in the Qatari population and founder mutations in the region, offering an efficient and cost-effective method for the early detection of reproductive genetic risks.

A pilot study is currently being designed to assess the Q-Scan technical performance, integration into clinical workflows, and its acceptability among the community. This study will inform the potential large-scale implementation of the Q-Scan within the national healthcare ecosystem.

By focusing on relevant genetic markers for the local population, the Q-Scan aims to contribute significantly to advancing reproductive health and genetic screening in Qatar, offering a practical solution for early detection and intervention.