.
To address this concern, we have developed a comprehensive
genetic screening test tailored for national population screening. This test
targets approximately ~500 genes associated with genetic diseases that occur at
an increased frequency in populations across the Middle East. By focusing on
identifying pathogenic variants, the test facilitates the early identification
of otherwise healthy individuals who carry these variants. This proactive
approach creates opportunities for implementing timely clinical interventions,
significantly reducing the risk of adverse outcomes caused by missed or delayed
diagnoses.
Additionally, many of these genetic disorders are inherited
in autosomal recessive or X-linked patterns, placing individuals at risk of
unknowingly passing on genetic disorders to their children. Identifying
carriers through this screening allows for informed decision-making and
targeted interventions, ultimately improving long-term health outcomes for
individuals and future generations.