Institute of Artificial Intelligence, Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Vienna, Austria.
Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, The Netherlands.
PLoS One. 2022 Jun 8;17(6):e0268534. doi: 10.1371/journal.pone.0268534. eCollection 2022.
The clinical implementation of pharmacogenomics (PGx) could be one of the first milestones towards realizing personalized medicine in routine care. However, its widespread adoption requires the availability of suitable clinical decision support (CDS) systems, which is often impeded by the fragmentation or absence of adequate health IT infrastructures. We report results of CDS implementation in the large-scale European research project Ubiquitous Pharmacogenomics (U-PGx), in which PGx CDS was rolled out and evaluated across more than 15 clinical sites in the Netherlands, Spain, Slovenia, Italy, Greece, United Kingdom and Austria, covering a wide variety of healthcare settings.
We evaluated the CDS implementation process through qualitative and quantitative process indicators. Quantitative indicators included statistics on generated PGx reports, median time from sampled upload until report delivery and statistics on report retrievals via the mobile-based CDS tool. Adoption of different CDS tools, uptake and usability were further investigated through a user survey among healthcare providers. Results of a risk assessment conducted prior to the implementation process were retrospectively analyzed and compared to actual encountered difficulties and their impact.
As of March 2021, personalized PGx reports were produced from 6884 genotyped samples with a median delivery time of twenty minutes. Out of 131 invited healthcare providers, 65 completed the questionnaire (response rate: 49.6%). Overall satisfaction rates with the different CDS tools varied between 63.6% and 85.2% per tool. Delays in implementation were caused by challenges including institutional factors and complexities in the development of required tools and reference data resources, such as genotype-phenotype mappings.
We demonstrated the feasibility of implementing a standardized PGx decision support solution in a multinational, multi-language and multi-center setting. Remaining challenges for future wide-scale roll-out include the harmonization of existing PGx information in guidelines and drug labels, the need for strategies to lower the barrier of PGx CDS adoption for healthcare institutions and providers, and easier compliance with regulatory and legal frameworks.
药物基因组学（PGx）的临床应用可能是实现常规护理个体化医学的第一个里程碑之一。然而，其广泛采用需要有合适的临床决策支持（CDS）系统，而这往往受到缺乏适当的卫生信息技术基础设施的限制。我们报告了在大型欧洲研究项目 Ubiquitous Pharmacogenomics（U-PGx）中实施 CDS 的结果，该项目在荷兰、西班牙、斯洛文尼亚、意大利、希腊、英国和奥地利的 15 个以上临床站点中推出并评估了 PGx CDS，涵盖了广泛的医疗保健环境。
我们通过定性和定量的过程指标评估了 CDS 的实施过程。定量指标包括生成的 PGx 报告的统计数据、从样本上传到报告交付的中位数时间以及通过移动 CDS 工具检索报告的统计数据。通过对医疗保健提供者进行用户调查，进一步调查和研究了不同 CDS 工具的采用、采用率和可用性。回顾性分析了实施前进行的风险评估的结果，并将其与实际遇到的困难及其影响进行了比较。
截至 2021 年 3 月，已从 6884 个基因分型样本中生成了个性化 PGx 报告，中位数交付时间为 20 分钟。在受邀的 131 名医疗保健提供者中，有 65 名完成了问卷（回应率：49.6%）。不同 CDS 工具的总体满意度各不相同，每个工具的满意度在 63.6%到 85.2%之间。实施延迟的原因包括机构因素以及开发所需工具和参考数据资源（如基因型-表型映射）的复杂性等挑战。
我们证明了在多国、多语言和多中心环境中实施标准化 PGx 决策支持解决方案的可行性。未来大规模推广仍面临的挑战包括协调指南和药物标签中现有的 PGx 信息、为医疗机构和提供者采用 PGx CDS 降低障碍的策略，以及更轻松地遵守监管和法律框架。
