Cecchin Erika, Roncato Rossana, Guchelaar Hendrik J, Toffoli Giuseppe
Farmacologia Sperimentale e Clinica, Centro di Riferimento Oncologico, IRCCS, via F. Gallini, 2, 33081 Aviano, Pordenone. Italy.
Experimental and Clinical Pharmacology, Centro Di Riferimento Oncologico- National Cancer Institute, 33081, Aviano. Italy.
Curr Pharm Biotechnol. 2017;18(3):204-209. doi: 10.2174/1389201018666170103103619.
Although the clinical validity of a number of pharmacogenetic markers is nowadays a matter of fact, and led authoritative scientific consortia as the Dutch Pharmacogenetic Working Group (DPWG) and the Clinical Pharmacogenomics Implementation Consortium (CPIC) to publish pharmacogenetic guidelines, the clinical implementation in real life remains challenging. Ubiquitous Pharmacogenomics (U-PGx) program is a coordinated effort that put together scientific and clinical expertise in the pharmacogenomic field, to implement the pre-emptive pharmacogenomic approach in the clinical practice in Europe, and to demonstrate its benefit in both patients' clinical outcome and quality of life, with an economic advantage for the healthcare system. The project is conceived as a clinical trial that will compare 4,000 patients, pre-emptively genotyped for a panel of pharmacogenes included in the DPWG guidelines, and treated accordingly, with 4,000 controls treated with the standard of care. All the genetic data will be prospectively collected and fully embedded into the patient's clinical record. An electronic clinical decision support system will be developed to alert physicians and pharmacists when a drug is being prescribed or dispensed to a patient with a risky genotype. U-PGx will test and harmonize this approach in seven healthcare environments (The Netherlands, Spain, UK, Italy, Austria, Greece, Slovenia) to set the basis for a future European healthcare system where an 'effective treatment optimization will be accessible to every European citizen' (www.upgx.eu).
尽管如今许多药物遗传学标志物的临床有效性已成为事实，并且促使荷兰药物遗传学工作组（DPWG）和临床药物基因组学实施联盟（CPIC）等权威科学联盟发布了药物遗传学指南，但在现实生活中的临床应用仍然具有挑战性。泛在药物基因组学（U-PGx）项目是一项协同努力，汇聚了药物基因组学领域的科学和临床专业知识，旨在在欧洲临床实践中实施前瞻性药物基因组学方法，并证明其对患者临床结局和生活质量的益处，同时为医疗保健系统带来经济优势。该项目被构想为一项临床试验，将对4000名患者进行前瞻性基因分型，这些患者针对DPWG指南中包含的一组药物基因进行了基因分型，并据此进行治疗，同时与4000名接受标准治疗的对照患者进行比较。所有基因数据将被前瞻性收集并完全纳入患者的临床记录中。将开发一个电子临床决策支持系统，当给具有风险基因型的患者开处方或配药时提醒医生和药剂师。U-PGx将在七个医疗环境（荷兰、西班牙、英国、意大利、奥地利、希腊、斯洛文尼亚）中测试并协调这种方法，为未来的欧洲医疗保健系统奠定基础，在该系统中“每个欧洲公民都能获得有效的治疗优化”（www.upgx.eu）。
