ASSESSING THE OUTCOMES AND EFFECTIVENESS OF THE NATIONAL PREMARITAL GENETIC SCREENING PROGRAM IN QATAR

Abstract

Background: Premarital screening (PMS) programs have been increasingly implemented in various countries due to their potential to reduce the incidence of genetic diseases. In Qatar, a PMS program has been in place since 2009 as a mandatory prerequisite for marriage. Since then, its outcomes have not been explored. Aim: To assess the outcomes and effectiveness of Qatar's PMS program. To identify potential gaps in its implementation and provide insights to guide improvements. Methods: A retrospective population-based study on the PMS testing results for the conditions cystic fibrosis (CF), homocystinuria (HCU) and spinal muscular atrophy (SMA) from 2009 to 2023. Results: A total of 75,767 tests were initiated within this period with 99% of samples belonging to nationals. Testing for CF (47%) and HCU (48%) was similarly high compared to SMA which was lower (5%), consistent with its optional screening status. The most common age at marriage was 20-30 years for females and 31-40 years for males. Our study sample included 50908 individuals. Carrier rates were highest for SMA (4.47%), followed by HCU (2.06%) and CF (1.46%). Among all carriers, HCU was the most common (n=498), followed by CF (n=349) and SMA (n=126). Among at-risk couples, 43.5% were positive for SMA, 30.5% for HCU, and 25.9% for CF. Consanguinity was reported in 46% of positive couples (where data was available) and was significantly associated with a higher likelihood of positive results (p < 0.001). More than half (53.6%) of at-risk couples continued with marriage. Among those, 92% did not have affected children. Use of reproductive assistance with genetic testing was observed in 12.6% of positive couples, while 7.5% did not utilize it. Importantly, use of such technology was significantly associated with a reduced incidence of affected children. Conclusion: Qatar's PMS program was effective in reaching its end-goal which is reducing the incidence of the specified conditions. However, the absence of affected children among at-risk couples may be influenced by various factors, including chance, infertility, or pregnancies with yet unknown outcomes. Therefore, while the results are encouraging, they should be interpreted with caution. Our findings demonstrate the success of the program approach but highlights the need for enhanced risk counseling after positive results, and the need for public educational campaigns highlighting the importance of premarital testing and the potential risks associated with consanguinity.