Genomic information is rapidly becoming a cornerstone of personalized medicine, offering transformative potential for clinical practice. This chapter explores the critical role of genomics in enabling earlier diagnosis, precise treatment, risk prediction, and preventive healthcare strategies. Advances in sequencing technologies, data integration, and bioinformatics allow for tailored healthcare solutions based on an individual's genetic profile, combined with clinical, lifestyle, and environmental data. Integration with electronic health records, mHealth technologies, and artificial intelligence further enhances clinical decision-making. The chapter highlights current applications of genomic medicine in oncology, rare diseases, and pharmacogenomics and the growing relevance of polygenic risk scores in managing common chronic diseases. It also discusses the need for harmonized data governance, infrastructure development, professional training, and public engagement to ensure equitable and effective implementation. These developments are situated within the broader landscape of national and international initiatives-including ICPerMed, 1Million Genomes, and the Genome of Europe project-that aim to foster collaboration, standardization, and equitable access to genomic healthcare across populations. Clinical areas where genomics has already demonstrated substantial value are discussed while identifying key challenges and priorities for advancing the future of personalized medicine.
Cardoso et al. (Thu,) studied this question.
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