实施药物基因组学检测：阿肯色儿童医院的单中心经验
Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.
作者信息
Gill Pritmohinder S, Yu Feliciano B, Porter-Gill Patricia A, Boyanton Bobby L, Allen Judy C, Farrar Jason E, Veerapandiyan Aravindhan, Prodhan Parthak, Bielamowicz Kevin J, Sellars Elizabeth, Burrow Andrew, Kennedy Joshua L, Clothier Jeffery L, Becton David L, Rule Don, Schaefer G Bradley
机构信息
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
Arkansas Children's Research Institute, Little Rock, AR 72202, USA.
出版信息
J Pers Med. 2021 May 11;11(5):394. doi: 10.3390/jpm11050394.
Pharmacogenomics (PGx) is a growing field within precision medicine. Testing can help predict adverse events and sub-therapeutic response risks of certain medications. To date, the US FDA lists over 280 drugs which provide biomarker-based dosing guidance for adults and children. At Arkansas Children's Hospital (ACH), a clinical PGx laboratory-based test was developed and implemented to provide guidance on 66 pediatric medications for genotype-guided dosing. This PGx test consists of 174 single nucleotide polymorphisms (SNPs) targeting 23 clinically actionable PGx genes or gene variants. Individual genotypes are processed to provide per-gene discrete results in star-allele and phenotype format. These results are then integrated into EPIC- EHR. Genomic indicators built into EPIC-EHR provide the source for clinical decision support (CDS) for clinicians, providing genotype-guided dosing.
药物基因组学（PGx）是精准医学中一个不断发展的领域。检测有助于预测某些药物的不良事件和亚治疗反应风险。迄今为止，美国食品药品监督管理局（FDA）列出了超过280种药物，这些药物为成人和儿童提供基于生物标志物的给药指导。在阿肯色儿童医院（ACH），开发并实施了一项基于临床PGx实验室的检测，以针对66种儿科药物提供基因型指导给药的指导。这项PGx检测由针对23个临床可操作的PGx基因或基因变体的174个单核苷酸多态性（SNP）组成。对个体基因型进行处理，以星型等位基因和表型格式提供每个基因的离散结果。然后将这些结果整合到EPIC-EHR中。EPIC-EHR中内置的基因组指标为临床医生提供临床决策支持（CDS）的来源，提供基因型指导给药。
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