Scholarlink

<p>Pharmacogenetics enables personalization of drug therapy based on an individual’s genetic profile. Despite clinical relevance, implementation of pharmacogenetics remains limited. In Italy, integration is fragmented, with heterogeneous practices and a lack of national coordination. A comprehensive assessment of the current landscape is essential. A nationwide survey was conducted between January and October 2025 to map laboratories providing pharmacogenetic testing. A structured questionnaire collected data on institutional characteristics, testing workflows, pharmacogene panels, analytical methodologies, interpretation procedures, and reimbursement. Forty-nine laboratories participated (response rate: 65%). Most were part of public institutions (82%), primarily general or research hospitals. Testing was predominantly performed in medical genetics units (39%) and focused on oncology, specifically <i>DPYD</i> (94%) and <i>UGT1A1</i> (84%) for fluoropyrimidine and irinotecan therapies. Adherence to national (SIF/AIOM) and international (CPIC/DPWG) guidelines was generally high; compliance with AMP Tier 1 analytical standards varied substantially. Pharmacological counseling was provided by only 29% of laboratories, mainly by clinical pharmacology units. Considerable heterogeneity emerged in testing platforms, bioinformatics tools, and the use of CE-IVD-certified kits. Marked geographical disparities were evident, with pharmacogenetic activity concentrated in Northern Italy. This survey provides the first national overview of pharmacogenetics implementation in Italy, revealing variability in laboratory practices, interpretation standards, and clinical integration. While oncology-related testing is widely adopted and guideline adherence is increasing, the lack of a coordinated national framework restricts consistency and equitable access. Establishing a coordinated network of pharmacogenetic laboratories with harmonized standards for testing, reporting, and education is crucial for evidence-based pharmacogenetic care.</p><p></p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Pharmacogenetic testing in Italy: results of a nationwide survey by the Joint Working Group for the pharmacogenetics implementation in Italy

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年4月3日

查看全文
  • Rossana Roncato,
  • Samantha Perfler,
  • Martina Gambron,
  • Enrico Zoroddu,
  • Monica Rosa Miozzo,
  • Sabrina Angelini,
  • Massimo Gennarelli,
  • Gabriele Stocco,
  • Valeria Conti,
  • Amelia Filippelli,
  • Paola Borgiani,
  • Giuseppe Novelli,
  • Alessio Squassina,
  • Matteo Floris,
  • Erika Cecchin,
  • Myriam Alcalay,
  • Manuela Badiali,
  • Marco Benati,
  • Francesca Daniela Bertola,
  • Gabriella Bianchino,
  • Elisa Boldrin,
  • Elisa Bonomi,
  • Beatrice Bortesi,
  • Concetta Cafiero,
  • Daniele Calistri,
  • Mario Capasso,
  • Anna Paola Capra,
  • Rita Congiu,
  • Francesca Crosti,
  • Matteo Curtarello,
  • Jessica Cusato,
  • Giulia D’Addario,
  • Alessandra D’Urso,
  • Emanuela De Bellis,
  • Dario De Biase,
  • Giovanna De Matteis,
  • Maria Dono,
  • Matteo Fabbri,
  • Antonella Fabretto,
  • Mosè Favarato,
  • Stefano Fogli,
  • Alessandra Franzoni,
  • Luca Gallelli,
  • Sabrina Rita Giglio,
  • Mara Giordano,
  • Giorgia Girotto,
  • Paola Grammatico,
  • Cristina Lapucci,
  • Sonia Lastraioli,
  • Barbara Mancini,
  • Irene Mancini,
  • Simona Natalina Mellone,
  • Pierantonio Menna,
  • Roberta Minari,
  • Rossana Mineri,
  • Giuseppe Miscio,
  • Lorena Mosca,
  • Antonino Moschella,
  • Stefania Murru,
  • Davide Nicoli,
  • Sara Orecchia,
  • Gloria Pessina,
  • Claudia Rengucci,
  • Nicoletta Sacchi,
  • Federica Sangiuolo,
  • Maria Scatolini,
  • Lisa Simi,
  • Sabine Stioui,
  • Silvia Tabano,
  • Luisa Toffolatti,
  • Stefania Tommasi,
  • Davide Trerè,
  • Alessandro Ubiali,
  • Sheila Ulivi,
  • Monica Zanussi

摘要

Pharmacogenetics enables personalization of drug therapy based on an individual’s genetic profile. Despite clinical relevance, implementation of pharmacogenetics remains limited. In Italy, integration is fragmented, with heterogeneous practices and a lack of national coordination. A comprehensive assessment of the current landscape is essential. A nationwide survey was conducted between January and October 2025 to map laboratories providing pharmacogenetic testing. A structured questionnaire collected data on institutional characteristics, testing workflows, pharmacogene panels, analytical methodologies, interpretation procedures, and reimbursement. Forty-nine laboratories participated (response rate: 65%). Most were part of public institutions (82%), primarily general or research hospitals. Testing was predominantly performed in medical genetics units (39%) and focused on oncology, specifically DPYD (94%) and UGT1A1 (84%) for fluoropyrimidine and irinotecan therapies. Adherence to national (SIF/AIOM) and international (CPIC/DPWG) guidelines was generally high; compliance with AMP Tier 1 analytical standards varied substantially. Pharmacological counseling was provided by only 29% of laboratories, mainly by clinical pharmacology units. Considerable heterogeneity emerged in testing platforms, bioinformatics tools, and the use of CE-IVD-certified kits. Marked geographical disparities were evident, with pharmacogenetic activity concentrated in Northern Italy. This survey provides the first national overview of pharmacogenetics implementation in Italy, revealing variability in laboratory practices, interpretation standards, and clinical integration. While oncology-related testing is widely adopted and guideline adherence is increasing, the lack of a coordinated national framework restricts consistency and equitable access. Establishing a coordinated network of pharmacogenetic laboratories with harmonized standards for testing, reporting, and education is crucial for evidence-based pharmacogenetic care.