DNA and genomics are becoming increasingly important to biomedical research, precision medicine, rare-disease diagnosis, cancer research, pharmacogenomics and population health in Italy. Italy has distinctive scientific and biological resources arising from substantial geographic and population diversity, a distributed network of research hospitals and universities, and an established national biobanking infrastructure. This narrative review examines the development and strategic role of DNA-based research in Italy, focusing on population genetics, biobanking, genomic medicine, rare diseases, cancer, pharmacogenomics, data governance and ethical considerations. Italian population-genomic studies demonstrate measurable genetic structure within the country, including differentiation involving Sardinia and gradients across the peninsula. At the infrastructure level, BBMRI.it connects Italian biobanks and biological-resource centres and supports access to samples including DNA together with clinical and research data. Italy is also participating in the European Genome of Europe initiative, which aims to build a European reference genome reflecting genetic and ancestral diversity. Recent Italian national strategy work has proposed strategic lines covering clinical implementation, specialized genomic centres, national genomic data infrastructure, professional training and public education. At the same time, genetic information presents distinctive privacy, consent, discrimination and governance challenges. The Italian data-protection framework imposes safeguards for processing genetic data and biological samples for scientific research. The review concludes that Italy's future DNA and genomics capacity will depend on interoperability, responsible data governance, equitable clinical translation, workforce development, high-quality biobanking and meaningful public and patient participation.
Keywords:DNA; genomics; Italy; population genetics; biobanking; precision medicine; rare diseases; cancer genomics; pharmacogenomics; genetic data governance