Tillman Emma M, McKinzie Cameron, Young Dave, Kam Charissa
Division of Clinical Pharmacology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Department of Pharmacy, University of North Carolina Medical Center, Chapel Hill, North Carolina, USA.
Pediatr Pulmonol. 2025 Aug;60(8):e71229. doi: 10.1002/ppul.71229.
Cystic fibrosis (CF) was once a fatal disease of childhood, but with advances in combination CFTR modulator therapies, life expectancy for persons with CF (PwCF) has increased. Despite remarkable improvements in life expectancy, CF is a chronic multiple organ system disease and comorbidities characterized by recurrent respiratory infections, pancreatic insufficiency, diabetes, liver disease, depression, anxiety, and bone disease resulting in exposure to many drugs. The Clinical Pharmacogenetics (PGx) Implementation Consortium (CPIC) publishes evidence-based guidelines for use of PGx to guide dosing for drug-gene interactions. This study aimed to assess the current use of PGx testing in CF care at CF Foundation-accredited care centers and affiliate programs (CFF-ACCAP) across the United States. A 14-item survey was distributed electronically to CF Foundation-accredited care centers and affiliate programs in the United States using the CF Foundation email exchange. Overall, 74 responses were received from a potential of the 287 CFF-ACCAP. Since each individual CFF-ACCAP may have had multiple team members who could have received and responded to the survey, it is possible that these responses include multiple respondents from a single center. Only eight (4%) respondents affirmed they were obtaining PGx testing beyond cystic fibrosis transmembrane conductance regulator (CFTR) and 66 (89%) respondents answered that they were not currently doing PGx for drug-gene pairs beyond CFTR. Based on this landscape survey, PGx is not commonly implemented in US CFF-ACCAP, but providers are open to using PGx to improve care in PwCF. Several barriers limit the implementation of PGx in CFF-ACCAP, which calls for guidance on how to effectively integrate PGx into CF clinical care.
囊性纤维化(CF)曾经是一种致命的儿童疾病,但随着CF跨膜传导调节因子(CFTR)联合调节剂疗法的进展,CF患者(PwCF)的预期寿命有所增加。尽管预期寿命有了显著提高,但CF是一种慢性多器官系统疾病,伴有反复呼吸道感染、胰腺功能不全、糖尿病、肝病、抑郁症、焦虑症和骨病等合并症,导致患者接触多种药物。临床药物遗传学(PGx)实施联盟(CPIC)发布基于证据的PGx使用指南,以指导药物-基因相互作用的剂量调整。本研究旨在评估美国CF基金会认可的护理中心和附属项目(CFF-ACCAP)在CF护理中PGx检测的当前使用情况。通过CF基金会电子邮件交换,以电子方式向美国CF基金会认可的护理中心和附属项目分发了一份包含14个条目的调查问卷。总体而言,在287个CFF-ACCAP中,共收到74份回复。由于每个CFF-ACCAP可能有多个团队成员可以接收并回复调查问卷,因此这些回复可能包括来自单个中心的多个受访者。只有8名(4%)受访者确认他们正在进行除囊性纤维化跨膜传导调节因子(CFTR)之外的PGx检测,66名(89%)受访者回答他们目前没有针对CFTR以外的药物-基因对进行PGx检测。基于这项概况调查,PGx在美国CFF-ACCAP中并不常用,但医疗服务提供者愿意使用PGx来改善PwCF的护理。几个障碍限制了PGx在CFF-ACCAP中的实施,这就需要有关如何有效地将PGx纳入CF临床护理的指导。