Finkelstein Joseph, Friedman Carol, Hripcsak George, Cabrera Manuel
Department of Biomedical Informatics, Columbia University, New York, NY, USA.
Department of Medicine, Columbia University, New York, NY, USA.
Pharmgenomics Pers Med. 2016 Apr 15;9:31-45. doi: 10.2147/PGPM.S101474. eCollection 2016.
Pharmacogenomic (PGx) testing has been increasingly used to optimize drug regimens; however, its potential in older adults with polypharmacy has not been systematically studied. In this hypothesis-generating study, we employed a case series design to explore potential utility of PGx testing in older adults with polypharmacy and to highlight barriers in implementing this methodology in routine clinical practice. Three patients with concurrent chronic heart and lung disease aged 74, 78, and 83 years and whose medication regimen comprised 26, 17, and 18 drugs, correspondingly, served as cases for this study. PGx testing identified major genetic polymorphisms in the first two cases. The first case was identified as "CYP3A4/CYP3A5 poor metabolizer", which affected metabolism of eleven prescribed drugs. The second case had "CYP2D6 rapid metabolizer" status affecting three prescribed medications, two of which were key drugs for managing this patient's chronic conditions. Both these patients also had VKORC1 allele *A, resulting in higher sensitivity to warfarin. All cases demonstrated a significant number of potential drug-drug interactions. Both patients with significant drug-gene interactions had a history of frequent hospitalizations (six and 23, respectively), whereas the person without impaired cytochrome P450 enzyme activity had only two acute episodes in the last 5 years, although he was older and had multiple comorbidities. Since all patients received guideline-concordant therapy from the same providers and were adherent to their drug regimen, we hypothesized that genetic polymorphism may represent an additional risk factor for higher hospitalization rates in older adults with polypharmacy. However, evidence to support or reject this hypothesis is yet to be established. Studies evaluating clinical impact of PGx testing in older adults with polypharmacy are warranted. For practical implementation of pharmacogenomics in routine clinical care, besides providing convincing evidence of its clinical effectiveness, multiple barriers must be addressed. Introduction of intelligent clinical decision support in electronic medical record systems is required to address complexities of simultaneous drug-gene and drug-drug interactions in older adults with polypharmacy. Physician training, clear clinical pathways, evidence-based guidelines, and patient education materials are necessary for unlocking full potential of pharmacogenomics into routine clinical care of older adults.
药物基因组学(PGx)检测已越来越多地用于优化药物治疗方案;然而,其在患有多种药物治疗的老年人中的潜力尚未得到系统研究。在这项产生假设的研究中,我们采用病例系列设计来探索PGx检测在患有多种药物治疗的老年人中的潜在效用,并强调在常规临床实践中实施该方法的障碍。三名患有慢性心肺疾病的患者,年龄分别为74岁、78岁和83岁,其药物治疗方案分别包含26种、17种和18种药物,作为本研究的病例。PGx检测在前两例中发现了主要的基因多态性。第一例被鉴定为“CYP3A4/CYP3A5慢代谢者”,这影响了11种处方药的代谢。第二例具有“CYP2D6快代谢者”状态,影响了3种处方药,其中两种是治疗该患者慢性病的关键药物。这两名患者还都有VKORC1等位基因*A,导致对华法林的敏感性更高。所有病例均显示出大量潜在的药物相互作用。两名有显著药物-基因相互作用的患者都有频繁住院史(分别为6次和23次),而细胞色素P450酶活性未受损的患者在过去5年中仅有2次急性发作,尽管他年龄较大且有多种合并症。由于所有患者都接受了来自相同医疗服务提供者的符合指南的治疗,并且坚持他们的药物治疗方案,我们推测基因多态性可能是患有多种药物治疗的老年人住院率较高的一个额外风险因素。然而,支持或反驳这一假设的证据尚未确立。有必要开展评估PGx检测对患有多种药物治疗的老年人临床影响的研究。为了在常规临床护理中实际实施药物基因组学,除了提供其临床有效性的令人信服的证据外,还必须解决多个障碍。需要在电子病历系统中引入智能临床决策支持,以解决患有多种药物治疗的老年人中药物-基因和药物-药物相互作用同时存在的复杂性。医生培训、明确的临床路径、循证指南和患者教育材料对于将药物基因组学的全部潜力释放到老年人的常规临床护理中是必要的。