Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems.
Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems.
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DOI：
10.1089/nsm.2019.0010
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发表时间：
2020-01-01
影响因子：
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通讯作者：
Kurnat-Thoma, Emma
中科院分区：
文献类型：
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作者：
Kurnat-Thoma, Emma
简介：精准医学（PM）时代呈现出前所未有的遗传/基因组计划、信息和生物信息学工具的激增，以增强靶向分子诊断和治疗性治疗。截至2020年2月29日，美国国立卫生研究院（NIH）国家生物技术信息中心（NCBI）基因检测登记处包含来自560个实验室的12，268种条件和18，686个基因的64，860项基因检测，食品和药物管理局有404个用于药物标签的药物基因组学生物标志物条目。基于人群的研究计划，包括NIH的All of Us和退伍军人事务部的百万退伍军人计划，以及英国生物库，联合收割机基因组生物储存库与电子病历（即，国家人类基因组研究所的[NHGRI的]电子病历和基因组学[eMERGE]网络）。学习卫生保健系统正在实施临床基因组学筛查计划和精确肿瘤学计划。然而，没有足够的医学遗传学家、护士遗传学家和遗传学顾问来实施PM实施所需的临床基因测试的数量。研究方法：对美国基因组医学翻译、PM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）趋势进行了范围审查。结果如下：卫生保健提供机构和系统开始实施基因检测，这是推动PM，特别是在肿瘤学，药物遗传学，产科和产前诊断领域。为了确保PM的安全采用和临床翻译，医疗保健系统有道德责任确保其提供者和一线工作人员为订购，使用和解释基因检测信息做好充分准备。结论：有一些高质量的循证教育资源和CDS工具可用。卫生保健系统领导者、一线提供者和工作人员之间的强有力的伙伴关系，加上合理的目标设定，可以帮助提高PM翻译的兴趣。
Introduction: 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 All of Us and Veterans Affairs' Million Veteran Program, 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. Methods: 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. Results: 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. Conclusion: 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.