期刊
GENETICS IN MEDICINE
卷 19, 期 2, 页码 215-223出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2016.87
关键词
CPIC; nomenclature; pharmacogenetics; pharmacogenomics; terminology
资金
- National Institutes of Health (NIH) [R24 GM115264, R24 GM61374, K23 GM104401, U19 GM61388]
Introduction: Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goal was to develop terms that can be broadly applied to characterize pharmacogenetic allele function and inferred phenotypes. Materials and methods: Terms currently used by genetic testing laboratories and in the literature were identified. The Clinical Pharmacogenetics Implementation Consortium (CPIC) used the Delphi method to obtain a consensus and agree on uniform terms among pharmacogenetic experts. Results: Experts with diverse involvement in at least one area of pharmacogenetics (clinicians, researchers, genetic testing laborato- rians, pharmacogenetics implementers, and clinical informaticians; n = 58) participated. After completion of five surveys, a consensus (>70%) was reached with 90% of experts agreeing to the final sets of pharmacogenetic terms. Discussion: The proposed standardized pharmacogenetic terms will improve the understanding and interpretation Of pharmacogenetic tests and reduce confusion by maintaining consistent nomenclature. These standard terms can also facilitate pharmacogenetic data sharing across diverse electronic health care recbrd systems with clinical decision support.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据