Sakon Colleen, Alicea Leah A, Patacca Heather, Brown Cynthia D, Skaar Todd C, Tillman Emma M
Pharmacy Department, Indiana University Health, Indianapolis, Indiana, USA.
Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Pediatr Pulmonol. 2022 Apr;57(4):903-907. doi: 10.1002/ppul.25809. Epub 2022 Jan 11.
Patients with cystic fibrosis (CF) are exposed to many drugs in their lifetime and many of these drugs have Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines that are available to guide dosing. Contemporary CF treatments are targeted to specific mutations in the CF transmembrane conductance regulator (CFTR) gene, and thus, require patients to have genetic testing before initiation of modulator therapy. However, aside from CFTR genetic testing, pharmacogenomic testing is not standard of care for CF patients.
The aim of this study is to determine the number of non-CFTR modulator medications with CPIC guidelines that are prescribed to patients with CF.
MATERIALS & METHODS: We identified all patients with a diagnosis of CF and queried our hospital electronic medical records (EMR) for all orders, including inpatient and prescriptions, for all drugs or drug classes that have CPIC actionable guidelines for drug-gene pairs that can be used to guide therapy.
We identified 576 patients with a diagnosis of CF that were treated at our institution during this 16-year period between June 2005 and May 2021. Of these patients, 504 patients (87.5%) received at least one drug that could have been dosed according to CPIC guidelines if pharmacogenomic results would have been available.
Patients with CF have high utilization of drugs with CPIC guidelines, therefore preemptive pharmacogenomic testing should be considered in CF patients at the time of CFTR genetic testing.
囊性纤维化（CF）患者一生中会接触多种药物，其中许多药物有临床药物基因组学实施联盟（CPIC）指南可用于指导给药。当代CF治疗针对CF跨膜传导调节因子（CFTR）基因的特定突变，因此，在启动调节剂治疗前需要患者进行基因检测。然而，除了CFTR基因检测外，药物基因组学检测并非CF患者的标准治疗方法。
本研究的目的是确定给CF患者开具的有CPIC指南的非CFTR调节剂药物的数量。
我们识别出所有诊断为CF的患者，并查询了我院电子病历（EMR）中所有有CPIC可操作的药物-基因对指南以指导治疗的药物或药物类别，包括住院医嘱和处方。
我们识别出在2005年6月至2021年5月这16年期间在我院接受治疗的576例诊断为CF的患者。在这些患者中，如果有药物基因组学结果，504例患者（87.5%）接受了至少一种可根据CPIC指南给药的药物。
CF患者对有CPIC指南的药物利用率很高，因此在进行CFTR基因检测时应考虑对CF患者进行预防性药物基因组学检测。
