McDermott John Henry, Sharma Videha, Keen Jessica, Newman William Gerard
Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, UK.
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Ann Hum Genet. 2025 Sep;89(5):398-405. doi: 10.1111/ahg.12601. Epub 2025 May 13.
Pharmacogenomics, the use of germline genomic data to guide prescription to improve effective and safer medication, holds promise as a clinical intervention. To date in most health systems, there has been limited uptake of pharmacogenomic testing confined to a few single drug-gene associations. Here, we describe the current reactive model of single gene testing and the potential for this to change to a pre-emptive panel or genome-based approach. For this change to occur, three major challenges need to be addressed-the pharmacogenomic testing approach, the digital and data integration, and service delivery models. We explore some of the potential solutions and how pharmacogenomics can be integrated into routine care at scale for patient benefit.
药物基因组学，即利用种系基因组数据指导处方以提高药物疗效和安全性，有望成为一种临床干预手段。迄今为止，在大多数卫生系统中，药物基因组检测的应用有限，仅限于少数单一药物-基因关联。在此，我们描述了当前单基因检测的反应性模式以及向抢先式检测组合或基于基因组的方法转变的可能性。为了实现这一转变，需要应对三个主要挑战——药物基因组检测方法、数字和数据整合以及服务提供模式。我们探讨了一些潜在的解决方案以及如何将药物基因组学大规模整合到常规护理中以造福患者。
