Clinical Pharmacogenetics Implementation Consortium (CPIC)

临床药物遗传学实施联盟 (CPIC)

• 批准号: 8931457
• 负责人: TERI Ellen KLEIN
• 金额: $ 122.13万
• 依托单位: ST. JUDE CHILDREN'S RESEARCH HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-07-01 至 2018-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8931457
• 关键词: Address; Adopted; Algorithms; Alleles; Amitriptyline; CYP2C19 gene; CYP2D6 gene; Characteristics; Clinic; Clinical; Clinical Practice Guideline; Communities; Data; Electronic Health Record; Evaluation; Funding; Gene Frequency; Genes; Genetic Translation; Genetic screening method; Genomics; Genotype; Goals; Grouping; Guidelines; Individual; Inherited; Institute of Medicine (U.S.); Journals; Laboratories; Language; Level of Evidence; Link; Literature; Medical; Medical Genetics; Medical Records; Medicine; Methods; Metoprolol; Mind; Outcome; Patients; Peer Review; Pharmaceutical Preparations; Pharmacogenetics; Pharmacogenomics; Pharmacotherapy; Phenotype; Procedures; Process; Provider; PubMed; Publishing; Recommendation; Registries; Research; Research Infrastructure; Research Personnel; Resources; Societies; System; TPMT gene; Test Result; Testing; Time; Translating; Translations; Uncertainty; United States Agency for Healthcare Research and Quality; United States National Institutes of Health; Update; Variant; Vendor; Work; base; clinical practice; clinically actionable; design; genetic variant; implementation research; improved; knowledge base; pharmacogenetic testing; precision medicine; public health relevance; response; statistics; thiopurine; tool; working group

 DESCRIPTION (provided by applicant): Inherited genomic variability is one of the major causes of inter-individual variability in drug response. Even for those genes and drugs for which there is clearly clinical utility to use genetic testing as one tool to improve prescribing, use of pharmacogenetic testing in the clinic has not been rapidly adopted. The goal of the Clinical Pharmacogenetics Implementation Consortium (CPIC) is to accelerate proper use of pharmacogenomic tests in the clinic. CPIC was formed in late 2009 as a shared project between PharmGKB and NIH's Pharmacogenomics Research Network (PGRN). CPIC addresses what has been one of the major barriers to clinical implementation of pharmacogenetic tests: the lack of freely available, peer-reviewed, updatable, and detailed gene/drug clinical practice guidelines. CPIC guidelines enable the translation of genetic laboratory test results into actionable prescribing decisions for specific drugs, centering on genes or drugs. Priority is given to gene/drug groupings for which the evidence for actionable prescribing is strongest. Following peer-review, CPIC guidelines are simultaneously published in a leading journal and posted to PharmGKB. A key assumption underlying CPIC guidelines is that as clinical genomic testing expands, clinicians are faced with uncertainty about how to use genetic test results, even if they have not explicitly ordered a test for a specific drug. Thus, CPIC guidelines help clinicians understand how to use available genetic test results to guide prescribing and do not focus on whether to order genetic tests. Each CPIC guideline adheres to a standard format that includes which variants define alleles, assignment of function to alleles, translation of diplotypes into phenotypes, prescribing recommendations (graded according to strength), graded evidence to support prescribing recommendations, allele frequencies world-wide, and algorithms and example language for clinical decision support. As of August 2014, CPIC has published 19 guidelines or updates, encompassing 31 drugs. The guidelines are widely cited, accessed, and downloaded, and are being used by leading external groups. Going forward, this resource will accomplish its goals via two specific aims. In Aim 1, CPIC will continue its work to select, create curate, and update CPIC guidelines (7-14/year) for all clinically actionable gene/drug groupings, and selectively expand the guidelines to include definitive clinical recommendations for non- actionable drugs linked to otherwise actionable genes. In Aim 2, CPIC will enhance access to and input into guidelines by external groups such as NIGMS's PGRN, NHGRI's Genomic Medicine Working group, AHRQ's www.guidelines.gov, NIH's Genetic Test Registry, PubMed, FDA, NHGRI's ClinGen, IOM's Genomic Medicine Roundtable, and professional societies by systematically evaluating community usage of CPIC guidelines on an ongoing basis to respond to the community and make enhancements as needed. Besides providing critical resources needed by the clinical pharmacogenomics community, CPIC guidelines provide proof of principle methods and processes that may be useful for other use cases in clinical implementation of genomic medicine.

 描述（由申请人提供）：遗传基因组变异是药物反应个体间变异的主要原因之一。即使对于那些明显具有临床效用的基因和药物，使用基因检测作为改善处方的一种工具，也可以使用 遗传药理学检测在临床上尚未得到迅速采用。临床药物遗传学实施联盟 (CPIC) 的目标是加速药物基因组学测试在临床中的正确使用。 CPIC 成立于 2009 年底，是 PharmGKB 和 NIH 药物基因组学研究网络 (PGRN) 之间的共享项目。 CPIC 解决了药物遗传学测试临床实施的主要障碍之一：缺乏免费提供的、经过同行评审的、可更新的、详细的基因/药物临床实践指南。 CPIC 指南能够将基因实验室测试结果转化为以基因或药物为中心的特定药物的可操作处方决策。优先考虑可采取行动的处方证据最强的基因/药物分组。经过同行评审后，CPIC 指南同时在领先期刊上发表并发布到 PharmGKB。 CPIC 指南的一个关键假设是，随着临床基因组检测的扩大，临床医生面临着如何使用基因检测结果的不确定性，即使他们没有明确要求对特定药物进行检测。因此，CPIC 指南帮助临床医生了解如何使用现有的基因检测结果来指导处方，而不是关注是否进行基因检测。每个 CPIC 指南都遵循标准格式，其中包括定义等位基因的变体、等位基因的功能分配、双倍型到表型的翻译、处方建议（根据强度分级）、支持处方建议的分级证据、全球等位基因频率以及用于临床决策支持的算法和示例语言。截至2014年8月，太保已发布19个指南或更新，涵盖31种药物。该指南被广泛引用、访问和下载，并被外部领先团体所使用。展望未来，该资源将通过两个具体目标来实现其目标。在目标 1 中，CPIC 将继续为所有临床可操作基因/药物组选择、制定和更新 CPIC 指南（7-14/年），并有选择地扩展指南，以包括与其他可操作基因相关的不可操作药物的明确临床建议。在目标 2 中，CPIC 将通过系统评估社区对 CPIC 指南的使用情况，加强外部团体（如 NIGMS 的 PGRN、NHGRI 基因组医学工作组、AHRQ 的 www.guidelines.gov、NIH 基因检测注册中心、PubMed、FDA、NHGRI 的 ClinGen、IOM 基因组医学圆桌会议和专业协会）对指南的获取和输入 持续响应社区并根据需要进行改进。除了提供临床药物基因组学界所需的关键资源外，CPIC 指南还提供了可能对基因组医学临床实施中的其他用例有用的原理方法和流程的证明。