Modern Medical Laboratory Journal

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This research aims to evaluate the evolutionary trajectory of the MSc in Medical Genetics program at Mashhad University of Medical Sciences (MUMS), focusing on the transition from classical biochemical screening to modern genomic analysis. The field of medical genetics in Iran has transitioned from basic biochemical screening to the analysis of complex genomic architecture. Mashhad University of Medical Sciences (MUMS) has played a seminal role in this evolution. We specifically examine the foundational molecular diagnostic work on phenylketonuria (PKU) and beta-thalassemia (β-thalassemia), which established the regional mutation spectrum and continues to inform current educational practices. We discuss how these classical molecular techniques provided the foundation for modern next-generation sequencing (NGS) and precision medicine education. Furthermore, we highlight current challenges, including the bioinformatics bottleneck, ethical considerations in genetic counseling, and the need to integrate whole-exome sequencing (WES) data with traditional targeted methods. The main conclusion is that maintaining competence in classical diagnostic techniques while simultaneously integrating NGS, bioinformatics, and genetic counseling is essential for sustainable medical genetics education in populations with high rates of consanguinity.
 

Keywords: Next-Generation Sequencing (NGS), Whole Exome Sequencing (WES), Bioinformatics Training, Precision Medicine.

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