Department of Pharmacotherapy and Translational Research and Center for Pharmacogenomics, University of Florida, Gainesville, FL, USA.
Departments of Pediatrics and Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Genet Med. 2019 Oct;21(10):2255-2263. doi: 10.1038/s41436-019-0484-3. Epub 2019 Mar 21.
A number of institutions have clinically implemented CYP2D6 genotyping to guide drug prescribing. We compared implementation strategies of early adopters of CYP2D6 testing, barriers faced by both early adopters and institutions in the process of implementing CYP2D6 testing, and approaches taken to overcome these barriers.
We surveyed eight early adopters of CYP2D6 genotyping and eight institutions in the process of adoption. Data were collected on testing approaches, return of results procedures, applications of genotype results, challenges faced, and lessons learned.
Among early adopters, CYP2D6 testing was most commonly ordered to assist with opioid and antidepressant prescribing. Key differences among programs included test ordering and genotyping approaches, result reporting, and clinical decision support. However, all sites tested for copy-number variation and nine common variants, and reported results in the medical record. Most sites provided automatic consultation and had designated personnel to assist with genotype-informed therapy recommendations. Primary challenges were related to stakeholder support, CYP2D6 gene complexity, phenotype assignment, and sustainability.
There are specific challenges unique to CYP2D6 testing given the complexity of the gene and its relevance to multiple medications. Consensus lessons learned may guide those interested in pursuing similar clinical pharmacogenetic programs.
许多机构已经在临床实践中实施 CYP2D6 基因分型以指导药物处方。我们比较了 CYP2D6 检测早期采用者的实施策略、早期采用者和机构在实施 CYP2D6 检测过程中面临的障碍，以及克服这些障碍所采取的方法。
我们调查了 8 个 CYP2D6 基因分型的早期采用者和 8 个正在采用的机构。收集了关于检测方法、结果报告程序、基因型结果的应用、面临的挑战和经验教训的数据。
在早期采用者中，CYP2D6 检测最常用于辅助阿片类药物和抗抑郁药的处方。方案之间的主要差异包括测试订购和基因分型方法、结果报告和临床决策支持。然而，所有站点都测试了拷贝数变异和 9 个常见变体，并在病历中报告了结果。大多数站点提供自动咨询，并指定人员协助进行基于基因型的治疗建议。主要挑战与利益相关者的支持、CYP2D6 基因的复杂性、表型分配和可持续性有关。
鉴于该基因的复杂性及其与多种药物的相关性，CYP2D6 检测存在特定的挑战。共识经验教训可能为那些有兴趣开展类似临床药物遗传学项目的人提供指导。
