Pharmacogenetic Testing for the Pediatric Gastroenterologist: Actionable Drug-Gene Pairs to Know.
Pharmacogenetic Testing for the Pediatric Gastroenterologist: Actionable Drug-Gene Pairs to Know.
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DOI：
10.3390/ph16060889
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发表时间：
2023-06-16
期刊：
影响因子：
--
通讯作者：
Shakhnovich V
中科院分区：
文献类型：
--
作者：
Sandritter T;Chevalier R;Abt R;Shakhnovich V
胃肠病学家通过药物遗传学测试代表了一些早期采用精确医学的人，在处方6-巯基嘌呤或硫唑嘌呤治疗炎症性肠病之前，他们接受了硫嘌呤S-甲基转移酶核苷酸二磷酸酶（TPMT）的前期基因分型。在过去的二十年里，药物遗传学检测已变得更容易获得其他基因相关的药物剂量个体化。胃肠病学家为炎症性肠病以外的疾病开出的常见药物现在有了可操作的指南，这可以提高药物的疗效和安全性;然而，对如何解释结果的清晰理解仍然是许多临床医生的挑战，排除了广泛实施基因型指导给药的药物，而不是6-巯基嘌呤和硫唑嘌呤。我们的目标是提供一个实用的教程，目前可用的药物遗传学检测的选择和结果解释的药物基因对重要的药物常用在儿科胃肠病学。我们专注于临床药物遗传学实施联盟（CPIC®）发布的循证临床指南，以强调相关的药物-基因对，包括质子泵抑制剂和选择性5-羟色胺再摄取抑制剂和细胞色素P450（CYP）2C 19，昂丹司琼和CYP 2D 6，6-巯基嘌呤和TMPT和NUDT水解酶15（NUDT 15），以及布地奈德和他克莫司和CYP 3A 5。
Gastroenterologists represent some of the earlier adopters of precision medicine through pharmacogenetic testing by embracing upfront genotyping for thiopurine S-methyltransferase nucleotide diphosphatase (TPMT) before prescribing 6-mercaptopurine or azathioprine for the treatment of inflammatory bowel disease. Over the last two decades, pharmacogenetic testing has become more readily available for other genes relevant to drug dose individualization. Common medications prescribed by gastroenterologists for conditions other than inflammatory bowel disease now have actionable guidelines, which can improve medication efficacy and safety; however, a clear understanding of how to interpret the results remains a challenge for many clinicians, precluding wide implementation of genotype-guided dosing for drugs other than 6-mercaptopurine and azathioprine. Our goal is to provide a practical tutorial on the currently available pharmacogenetic testing options and a results interpretation for drug–gene pairs important to medications commonly used in pediatric gastroenterology. We focus on evidence-based clinical guidelines published by the Clinical Pharmacogenetics Implementation Consortium (CPIC®) to highlight relevant drug–gene pairs, including proton pump inhibitors and selective serotonin reuptake inhibitors and cytochrome P450 (CYP) 2C19, ondansetron and CYP2D6, 6-mercaptopurine and TMPT and Nudix hydrolase 15 (NUDT15), and budesonide and tacrolimus and CYP3A5.
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