Centre for Clinical Pharmacology and Therapeutics, Institute of Health Informatics, University College London, UK.
Professional Record Standards Body, London, UK.
Br J Clin Pharmacol. 2022 Jul;88(7):3201-3210. doi: 10.1111/bcp.15234. Epub 2022 Feb 14.
For diseases with a genetic cause, genomics can deliver improved diagnostics and facilitate access to targeted treatments. Drug pharmacodynamics and pharmacokinetics are often dependent on genetic variation underlying these processes. As pharmacogenomics comes of age, it may be the first way in which genomics is utilised at a population level. Still required is guidance and standards of how genomic information can be communicated within the health record, and how clinicians should be alerted to variation impacting the use of medicines.
The Professional Record Standards Body commissioned by NHS England developed guidance on using pharmacogenomics information in clinical practice. We conducted research with those implementing pharmacogenomics in England and internationally to produce guidance and recommendations for a systems-based approach.
A consensus viewpoint is that systems need to be in place to ensure the safe provision of pharmacogenomics information that is curated, actionable and up-to-date. Standards should be established with respect to notification and information exchange, which could impact new or existing prescribing and these must be in keeping with routine practice. Alerting systems should contribute to safer practices.
Ensuring pharmacogenetics information is available to make safer use of medicines will require a major effort, of which this guidance is a beginning. Standards are required to ensure useful genomic information within the health record can be communicated to clinicians in the right format and at the right times to be actioned successfully. A multidisciplinary group of stakeholders must be engaged in developing pharmacogenomic standards to support the most appropriate prescribing.
对于具有遗传原因的疾病，基因组学可以提供改进的诊断，并有助于获得靶向治疗。药物的药效学和药代动力学通常取决于这些过程的遗传变异。随着基因组学逐渐成熟，它可能是基因组学在人群水平上首次得到应用的方式。仍然需要指导和标准来规定如何在健康记录中传达基因组信息，以及临床医生应如何注意影响药物使用的变异。
NHS 英格兰委托专业记录标准机构制定了在临床实践中使用药物基因组学信息的指南。我们与在英格兰和国际上实施药物基因组学的人员进行了研究，以制定基于系统的方法的指南和建议。
人们普遍认为，需要建立系统来确保安全提供经过策展、可操作且最新的药物基因组学信息。应该制定关于通知和信息交换的标准，这些标准可能会影响新的或现有的处方，并且必须与常规实践保持一致。警报系统应该有助于更安全的实践。
确保提供药物遗传学信息以更安全地使用药物将需要付出巨大的努力，本指南只是一个开始。需要制定标准，以确保健康记录中的有用基因组信息能够以正确的格式和在适当的时间传达给临床医生，以便成功采取行动。必须让多学科利益相关者参与制定药物基因组学标准，以支持最合适的处方。
