Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine

Jmel, Haifa; Sarno, Stefania; Giuliani, Cristina; Boukhalfa, Wided; Abdelhak, Sonia; Luiselli, Donata; Kefi, Rym

doi:10.1038/s41598-024-55239-7

Cited by 3 publications

(1 citation statement)

References 59 publications

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“…On the other side, half of all prescriptions in the United States is potentially affected by actionable germline PGt variants [ 25 ]. With the advent of population-scale research initiatives, it is also becoming feasible to estimate the prevalence of the most relevant pharmacogenetic variants in the European [ 26 ] and Italian populations [ 24 , 27 ]. Therefore, it is this becoming possible to assess which part of the population may be targeted by preventive pharmacogenetic initiatives.…”

Section: Introductionmentioning

confidence: 99%

Pharmacogenetics in Italy: current landscape and future prospects

Floris,

Moschella,

Alcalay

et al. 2024

Hum Genomics

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Pharmacogenetics investigates sequence of genes that affect drug response, enabling personalized medication. This approach reduces drug-induced adverse reactions and improves clinical effectiveness, making it a crucial consideration for personalized medical care. Numerous guidelines, drawn by global consortia and scientific organizations, codify genotype-driven administration for over 120 active substances. As the scientific community acknowledges the benefits of genotype-tailored therapy over traditionally agnostic drug administration, the push for its implementation into Italian healthcare system is gaining momentum. This evolution is influenced by several factors, including the improved access to patient genotypes, the sequencing costs decrease, the growing of large-scale genetic studies, the rising popularity of direct-to-consumer pharmacogenetic tests, and the continuous improvement of pharmacogenetic guidelines. Since EMA (European Medicines Agency) and AIFA (Italian Medicines Agency) provide genotype information on drug leaflet without clear and explicit clinical indications for gene testing, the regulation of pharmacogenetic testing is a pressing matter in Italy. In this manuscript, we have reviewed how to overcome the obstacles in implementing pharmacogenetic testing in the clinical practice of the Italian healthcare system. Our particular emphasis has been on germline testing, given the absence of well-defined national directives in contrast to somatic pharmacogenetics.

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Section: Introductionmentioning

confidence: 99%