イタリアにおけるDPYDとUGT1A1検査の摂取量と薬剤遺伝学ガイドラインの遵守:EQA提供者からの5年展望
Rossana Roncato1,2, Samantha Perfler1, Diletta Pasin1
1Experimental and Clinical Pharmacology, Centro di Riferimento Oncologico di Aviano IRCCS, Aviano, Italy.
British journal of clinical pharmacology
|September 4, 2025
まとめ
イタリアの研究室では,薬剤遺伝検査の精度とガイドラインの遵守が改善されています. 外部品質評価では,DPYDとUGT1A1テストの採用が増加し,特定のゲノタイプ化パネルと正確な臨床解釈の利用が増加しています.
科学分野:
- 薬剤遺伝学
- 臨床研究室科学
- 分子診断
背景:
- 薬剤遺伝検査の実施には,現在の実験室の慣行を理解する必要があります.
- 外部品質評価 (EQA) プログラムは,実験室のパフォーマンスの評価と改善に不可欠です.
- 欧州分子遺伝学品質ネットワーク (EMQN) ファルマコスキームは,薬剤遺伝学的試験の評価のための枠組みを提供します.
研究 の 目的:
- イタリアの研究所の薬剤遺伝学ガイドラインと勧告の実施を調査する.
- 5年 (2019年から2023年) の間における薬剤遺伝検査の進化を分析する.
- 薬物遺伝学的な報告における臨床解釈の正確性とガイドラインの遵守を評価する.
主な方法:
- EMQN Pharmaco-scheme (2019-2023) に参加しているイタリアの研究所の匿名化された臨床薬理学報告の分析.
- DPYDとUGT1A1の薬物相互作用に焦点を当てた88件の報告の評価
- ゲノタイプ化パネルの評価,方法論,ガイドライン参照,解釈の正確性
主要な成果:
- イタリアの研究室は,EQA制度に欧州からの出願の45%を寄与した.
- 2023年までにSIF-AIOMパネルの97%の利用率でDPYDとUGT1A1テストの採用を大幅に増加させる.
- 主要ガイドラインに沿った正確な臨床解釈は34% (2021) から63% (2023) に増加した.
- 商用IVDキットを用いて,アレル差別が好ましい遺伝子型決定方法となった.
結論:
- この研究は,イタリアのEQAプログラム参加者の薬剤遺伝検査の実践のスナップショットを提示しています.
- 臨床薬剤遺伝学における精度とガイドラインの遵守の改善に向けた励ましの傾向が観察されています.
- 薬剤遺伝学の実践における意識と調和の増大は,この研究結果に反映されています.
関連する概念動画
Nonlinear Pharmacokinetics: Dependence of Elimination Half-Life and Dose Clearance
293
The elimination half-life and drug clearance of drugs following nonlinear kinetics can vary with dosage. The Michaelis-Menten parameters and drug concentration influence these factors. As the dose increases, the elimination half-life tends to lengthen, resulting in a reduction in clearance and a disproportionately larger area under the curve. The total clearance can be derived from the Michaelis-Menten equation for drugs following a one-compartment model.
A study on guinea pigs examined the...
A study on guinea pigs examined the...
293
Factors Affecting Drug Response: Overview
2.3K
When it comes to infants and young children, they are typically administered smaller doses of medication in comparison to adults. This is primarily because their organ functions still need to fully develop, meaning their bodies are not as efficient at metabolizing or eliminating drugs. Additionally, their blood-brain barrier is more permeable than in adults. As a result, high concentrations of drugs can easily penetrate the central nervous system (CNS), potentially leading to neurological...
2.3K
Factors Affecting Protein-Drug Binding: Patient-Related Factors
111
Protein-drug binding, a pivotal aspect of pharmacokinetics, is subject to considerable variability influenced by an array of patient-related factors. The intricate interplay of age, individual differences, and pathological conditions significantly impact the binding dynamics and subsequent pharmacological effects.
Age stands as a key determinant in protein-drug binding. Neonates, characterized by low albumin content, experience heightened concentrations of unbound drugs such as phenytoin and...
Age stands as a key determinant in protein-drug binding. Neonates, characterized by low albumin content, experience heightened concentrations of unbound drugs such as phenytoin and...
111
Factors Influencing Drug Absorption: Disease States and Pharmacology
762
Multiple disease states can significantly influence the oral drug absorption process by affecting blood flow and the functionality of the gastrointestinal (GI) system. Various GI diseases, including conditions that alter GI motility, such as diarrhea, decreased acid secretions (achlorhydria), and infections, have been associated with reduced drug absorption.
Substances such as alcohol and specific drugs, including antineoplastics, can also negatively impact drug absorption. For instance,...
Substances such as alcohol and specific drugs, including antineoplastics, can also negatively impact drug absorption. For instance,...
762
Carrier-Mediated Transport
540
Carrier-mediated transport is a pivotal process in drug absorption, particularly for lipid-insoluble drugs, and encompasses facilitated diffusion and active transport. Facilitated diffusion allows drugs to move along their concentration gradient without energy expenditure, while active transport utilizes ATP to drive drug movement against this gradient.
Active transport involves two types of membrane-spanning transporters: uptake and efflux. Uptake transporters are expressed in the small...
Active transport involves two types of membrane-spanning transporters: uptake and efflux. Uptake transporters are expressed in the small...
540
Nonlinear Pharmacokinetics: Role of Transporters
91
A drug's nonlinear kinetics can be influenced by a diverse range of transporter proteins that serve as crucial players in drug distribution. These transporters, found within cells, can enhance or reduce local drug concentrations by facilitating the influx or efflux of drugs. For instance, the expression of xenobiotic transporters can be influenced by factors such as age and gender, potentially impacting the linearity of drug response.
Polymorphisms occurring in drug transporters can alter...
Polymorphisms occurring in drug transporters can alter...
91


