Clinical Pharmacogenetics Implementation Consortium (CPIC)

摘要 药物基因组学经常被认为是临床上最容易被吸收的基因组研究的子集。 医药。在过去的几年里，领先的机构已经开始使用药物遗传学测试结果来指导 在一些临床环境中开出处方，但临床实施工作证明了这一严格 需要指导方针来最佳地使用药物遗传学测试结果。认识到这一需求，我们成立了 临床药物遗传学实施联盟(CPIC®)在2009年。CPIC的目标是提供 将原始基因检测信息转换为针对特定疾病的处方建议所需的资源 基因/药物配对。这是通过创建、管理和传播同行评议的 以证据为基础、免费提供的临床实践基因/药物指南。CPIC是美国国立卫生研究院唯一支持的团体 专注于将药物基因组变异转化为处方行为。我们有两个具体目标：目标 目标1是创建、管理和更新药物遗传学指南，目标2是与指南使用者和 其他公共基因组资源，以协调努力，传播CPIC内容，并响应 全球基因组学领域的需求。CPIC指南是在标准同行评审后发布的，并且是 同时在网上发布，以便在出现新信息时实时更新指南。CPIC 根据标准化标准将基因/药物对分配到可操作的级别。CPIC调查员，工作 与每个内容领域的国际公认的专家一起，为那些符合以下条件的基因编写临床指南 显然对至少一种药物是可以起诉的。指导方针遵循最佳实践，使用标准化格式、评分 关于临床建议的证据水平和强度，以及遵循符合以下条件的作者过程 符合美国医学研究所临床指南的最佳实践。指导方针包括以下表格 定义等位基因、赋予等位基因功能、估计主要祖先中等位基因频率的基因组变异 分组，将双倍型转换为表型，为表型提供处方可操作性，并包括 临床决策支持语言范例。CPIC将继续进行大量的外展工作，并已 导致对CPIC准则的广泛接受和认可。内容的组织方式是为了方便 广泛的研究和临床社区，包括相关的公共数据库，如PharmGKB，Clingen， ClinVar和PharmVar。

ABSTRACT Pharmacogenomics is often cited as the subset of genomic research that is most amenable to uptake in clinical medicine. Over the last few years, leading institutions have begun using pharmacogenetic test results to guide prescribing in some clinical settings, but clinical implementation efforts have documented that rigorous guidelines are needed to optimally use pharmacogenetic test results. Recognizing this need, we formed the Clinical Pharmacogenetics Implementation Consortium (CPIC®) in 2009. The goal of CPIC is to provide resources needed to translate raw genetic test information into prescribing recommendations for specific gene/drug pairs. This is accomplished through the creation, curation, and dissemination of peer-reviewed, evidence-based, freely available clinical practice gene/drug guidelines. CPIC is the only NIH-supported group to focus on translation of pharmacogenomic variation into prescribing actions. We have two specific aims: Aim 1 is to create, curate, and update pharmacogenetic guidelines, and Aim 2 is to work with guideline users and other public genomic resources to coordinate efforts, disseminate CPIC content, and be responsive to the needs of the global genomics community. CPIC guidelines are published after standard peer review, and are simultaneously posted online allowing for real-time updates of guidelines as new information emerges. CPIC assigns gene/drug pairs to levels of actionability based on standardized criteria. CPIC investigators, working with internationally recognized experts in each content area, write clinical guidelines for those genes that are clearly actionable for at least one drug. Guidelines follow best practices, using a standardized format, grading for levels of evidence and strength of clinical recommendations, and adhering to authorship processes that are consistent with the Institute of Medicine best practices for clinical guidelines. Guidelines include tables of the genomic variants that define alleles, assign function to alleles, estimate allele frequency among major ancestry groups, translate diplotypes into phenotypes, provide prescribing actionability for phenotypes, and include example clinical decision support language. Considerable outreach efforts by CPIC will continue and have resulted in broad uptake and endorsement of CPIC guidelines. Content is organized to facilitate usage by the broad research and clinical community, including related public databases such as PharmGKB, ClinGen, ClinVar, and PharmVar.