Norris Madeline, Dalton Rachel, Alam Benish, Eddy Elizabeth, Nguyen Khoa A, Cavallari Larisa H, Sumfest Jill, Wiisanen Kristin, Cicali Emily J
Department of Pharmacotherapy and Translational Research, University of Florida College of Pharmacy, Gainesville, FL, United States.
Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville, FL, United States.
Front Genet. 2023 Aug 23;14:1249003. doi: 10.3389/fgene.2023.1249003. eCollection 2023.
This manuscript reports on a pilot program focused on implementing pharmacogenetic testing within the framework of an employer-sponsored medical plan at University of Florida (UF) Health. The aim was to understand the challenges associated with program implementation and to gather insights into patient attitudes towards PGx testing. The pilot program adopted a partially preemptive approach, targeting patients on current prescriptions for medications with relevant gene-drug associations. Patients were contacted via phone or through the MyChart system and offered pharmacogenetic testing with no additional direct costs. Of 244 eligible patients, 110 agreed to participate. However, only 61 returned the mailed DNA collection kits. Among these, 89% had at least one potentially actionable genotype-based phenotype. Post-test follow-up revealed that while the majority viewed the process positively, 71% preferred a consultation with a pharmacogenetic specialist for better understanding of their results. Barriers to implementation ranged from fatigue with the healthcare system to a lack of understanding of the pharmacogenetic testing and concerns about privacy and potential misuse of genetic data. The findings underscore the need for clearer patient education on pharmacogenetic results and suggest the importance of the role of pharmacogenetic-trained pharmacists in delivering this education. They also highlight issues with relying on incomplete or inaccurate medication lists in patients' electronic health record. The implementation revealed less obvious challenges, the understanding of which could be beneficial for the success of future preemptive pharmacogenetic implementation programs. The insights from the pilot program served to bridge the information gap between patients, providers, and pharmacogenetic -specialists, with the ultimate goal of improving patient care.
本手稿报告了一项试点项目，该项目专注于在佛罗里达大学健康中心（UF Health）雇主赞助的医疗计划框架内实施药物遗传学检测。目的是了解与项目实施相关的挑战，并深入了解患者对药物基因组学检测的态度。试点项目采用了部分先发制的方法，针对正在使用具有相关基因-药物关联的药物进行当前处方治疗的患者。通过电话或MyChart系统联系患者，并提供药物遗传学检测，无需额外直接费用。在244名符合条件的患者中，110人同意参与。然而，只有61人退回了邮寄的DNA采集试剂盒。在这些人中，89%至少有一种基于基因型的潜在可采取行动的表型。检测后的随访显示，虽然大多数人对这个过程持积极态度，但71%的人希望与药物遗传学专家进行咨询，以便更好地理解他们的检测结果。实施的障碍包括对医疗系统的疲劳、对药物遗传学检测的缺乏了解以及对隐私和基因数据潜在滥用的担忧。研究结果强调了对患者进行更清晰的药物遗传学检测结果教育的必要性，并表明受过药物遗传学培训的药剂师在提供这种教育方面的重要作用。它们还突出了依赖患者电子健康记录中不完整或不准确的药物清单所存在的问题。该实施揭示了一些不太明显的挑战，了解这些挑战可能有助于未来先发制药物遗传学实施项目的成功。试点项目的见解有助于弥合患者、提供者和药物遗传学专家之间的信息差距，最终目标是改善患者护理。
