Kurnat-Thoma Emma
Department of Intramural Research, DHHS/NIH/NINR, Bethesda, Maryland, USA.
School of Nursing and Health Studies, Georgetown University, Washington, District of Columbia, USA.
Netw Syst Med. 2020 May 26;3(1):58-66. doi: 10.1089/nsm.2019.0010. eCollection 2020.
The precision medicine (PM) era presents unprecedented proliferation of genetic/genomic initiatives, information, and bioinformatic tools to enhance targeted molecular diagnosis and therapeutic treatments. As of February 29, 2020, the National Institutes of Health (NIH) National Center for Biotechnology Information (NCBI) Genetic Testing Registry contained 64,860 genetic tests for 12,268 conditions and 18,686 genes from 560 laboratories, and the Food and Drug Administration had 404 entries for pharmacogeneomic biomarkers used in drug labeling. Population-based research initiatives including NIH's and Veterans Affairs' , and the UK Biobank, combine use of genomic biorepositories with electronic medical records (i.e., National Human Genome Research Institute's [NHGRI's] electronic Medical Records and Genomics [eMERGE] Network). Learning health care systems are implementing clinical genomics screening programs and precision oncology programs. However, there are insufficient medical geneticists, nurse geneticists, and genetics counselors to implement expanding number of clinical genetic tests that are required for PM implementation. A scoping review of current (2014-2019) trends in U.S. genomic medicine translation, PM health care provider workforce education and training resources, and genomic clinical decision support (CDS) implementation tools was conducted. Health care delivery institutions and systems are beginning to implement genetic tests that are driving PM, particularly in the areas of oncology, pharmacogenetics, obstetrics, and prenatal diagnostics. To ensure safe adoption and clinical translation of PM, health care systems have an ethical responsibility to ensure their providers and front-line staff are adequately prepared to order, use, and interpret genetic test information. There are a number of high-quality evidenced-based educational resources and CDS tools available. Strong partnerships between health care system leaders, front-line providers and staff coupled with reasonable goal setting can help drive PM translation interests.
精准医学（PM）时代带来了基因/基因组计划、信息和生物信息工具前所未有的激增，以加强靶向分子诊断和治疗。截至2020年2月29日，美国国立卫生研究院（NIH）下属的国立生物技术信息中心（NCBI）的基因检测注册库包含来自560个实验室的针对12268种病症和18686个基因的64860项基因检测，美国食品药品监督管理局有404项用于药物标签的药物基因组生物标志物条目。包括NIH的以及退伍军人事务部的和英国生物银行在内的基于人群的研究计划，将基因组生物样本库与电子病历相结合（即美国国立人类基因组研究所[NHGRI]的电子病历与基因组学[eMERGE]网络）。学习型医疗保健系统正在实施临床基因组筛查计划和精准肿瘤学计划。然而，实施精准医学所需的临床基因检测数量不断增加，而医学遗传学家、护士遗传学家和遗传学顾问却不足。对美国基因组医学转化、精准医学医疗保健提供者劳动力教育和培训资源以及基因组临床决策支持（CDS）实施工具的当前（2014 - 2019年）趋势进行了范围界定审查。医疗保健提供机构和系统开始实施推动精准医学的基因检测，尤其是在肿瘤学、药物遗传学、妇产科和产前诊断领域。为确保精准医学的安全采用和临床转化，医疗保健系统有道德责任确保其提供者和一线工作人员有充分准备来订购、使用和解读基因检测信息。有许多高质量的循证教育资源和临床决策支持工具可供使用。医疗保健系统领导者、一线提供者和工作人员之间的强有力伙伴关系以及合理的目标设定有助于推动精准医学转化的兴趣。
