PDF(Pubmed)
Abstract：
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.
摘要：
药物遗传学研究影响药物反应的基因序列，实现个性化用药。这种方法减少了药物引起的不良反应,提高了临床疗效,使其成为个性化医疗的关键考虑因素。许多指导方针，由全球财团和科学组织绘制，编码基因型驱动的管理超过120种活性物质。正如科学界承认基因型定制疗法相对于传统的不可知药物管理的好处，推动其在意大利医疗保健系统中实施的势头正在增强。这种演变受到几个因素的影响，包括改善对患者基因型的获取，测序成本降低，大规模遗传研究的发展，直接面向消费者的药物遗传学测试越来越受欢迎，以及药物遗传学指南的不断完善。由于EMA（欧洲药品管理局）和AIFA（意大利药品管理局）在药物说明书上提供基因型信息，而没有明确的基因检测临床适应症，在意大利，药物遗传学测试的监管是一个紧迫的问题。在这份手稿中,我们回顾了如何克服在意大利医疗保健系统的临床实践中实施药物遗传学检测的障碍.我们特别强调的是种系测试，鉴于缺乏明确的国家指令，与体细胞药物遗传学相反。
