Genomics and Precision Medicine: Translating Sequence to Clinical Action

This chapter examines how advances in whole-genome and whole-exome sequencing have transformed the diagnosis and management of complex and rare diseases, enabling individualised treatment strategies rooted in a patient’s unique genomic profile. It reviews the evolving landscape of genomic databases, variant interpretation frameworks, and the clinical integration of polygenic risk scores. The chapter also addresses challenges in equitable access, informed consent, and the bioinformatic infrastructure required for scalable genomic medicine.