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本文引用的文献

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Navigating the evidentiary turn in public health: Sensemaking strategies to integrate genomics into state-level chronic disease prevention programs.在公共卫生领域中应对证据转向:将基因组学纳入州级慢性病预防规划的意义构建策略。
Soc Sci Med. 2018 Aug;211:207-215. doi: 10.1016/j.socscimed.2018.06.026. Epub 2018 Jun 23.
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Understanding the potential of state-based public health genomics programs to mitigate disparities in access to clinical genetic services.理解基于州的公共卫生基因组学计划在减轻临床遗传服务获取方面的差异方面的潜力。
Genet Med. 2019 Feb;21(2):373-381. doi: 10.1038/s41436-018-0056-y. Epub 2018 Jun 12.
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Genetic testing insurance coverage trends: a review of publicly available policies from the largest US payers.基因检测保险覆盖趋势:对美国最大支付方公开政策的综述
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Transcriptional repressor Kaiso promotes epithelial to mesenchymal transition and metastasis in prostate cancer through direct regulation of miR-200c.转录抑制因子 Kaiso 通过直接调控 miR-200c 促进前列腺癌中的上皮间质转化和转移。
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False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.直接面向消费者的基因检测产生的假阳性结果强调了为适当的患者护理进行临床确认检测的重要性。
Genet Med. 2018 Dec;20(12):1515-1521. doi: 10.1038/gim.2018.38. Epub 2018 Mar 22.
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Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy.临床药物遗传学实施联盟(CPIC)关于 CYP2D6 和他莫昔芬治疗的指南。
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Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.种族/民族差异与遗传性癌症风险的多基因测序结果。
Genet Med. 2018 Feb;20(2):234-239. doi: 10.1038/gim.2017.96. Epub 2017 Jul 27.
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Genomics, Health Disparities, and Missed Opportunities for the Nation's Research Agenda.基因组学、健康差异与国家研究议程中错失的机遇。
JAMA. 2017 May 9;317(18):1831-1832. doi: 10.1001/jama.2017.3096.
10
Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors.基于人群的年轻乳腺癌幸存者样本中BRCA检测与癌症风险管理的种族差异。
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精准医学时代的多样性——从实验室到临床实践的转化。

Diversity in the Era of Precision Medicine - From Bench to Bedside Implementation.

机构信息

School of Public Health, University of North Texas (UNT) System College of Pharmacy, University of North Texas Health Science Center, Fort Worth, TX.

Graduate School of Biomedical Sciences, UNT Health Science Center, Fort Worth, TX.

出版信息

Ethn Dis. 2019 Jul 18;29(3):517-524. doi: 10.18865/ed.29.3.517. eCollection 2019 Summer.

DOI:10.18865/ed.29.3.517
PMID:31367173
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6645716/
Abstract

Recent evidence shows how patients' unique genetic makeup can affect disease outcomes and the increasing availability of targeted treatments promises a future in health care, whereby treatments will be tailored to individual needs. This article reports on the topics discussed at the 13th Annual Texas Conference on Health Disparities, organized by the Texas Center for Health Disparities at the University of North Texas Health Science Center; the meeting focused on the theme, "Diversity in the Era of Precision Medicine" and was held during June 2018 in Fort Worth, Texas. The primary focus of this conference, which brought together clinical and basic scientists, was on the inclusion of diversity in precision medicine to bridge the gap in health disparities. Here, we present the highlights of the conference that include the potential application of precision medicine at the population level, the effects of precision medicine and direct-to-consumer testing on health disparities, genetic basis of health disparities, pharmacogenomics, and strategies to enhance participation of under-represented populations in precision medicine. Furthermore, we conclude with recommendations for future implementation, including how to mitigate disparities in genomics services and enhance participation of diverse groups in clinical trials.

摘要

最近的证据表明,患者独特的基因构成如何影响疾病的结果,而靶向治疗的日益普及有望为医疗保健带来未来,即治疗将根据个体需求进行定制。本文报道了在第 13 届德克萨斯州健康差异年度会议上讨论的主题,该会议由北德克萨斯健康科学中心的德克萨斯州健康差异中心组织;会议的主题是“精准医学时代的多样性”,于 2018 年 6 月在德克萨斯州沃思堡举行。这次会议的主要重点是将多样性纳入精准医学,以弥合健康差异的差距。在这里,我们介绍了会议的重点,包括精准医学在人群层面的潜在应用、精准医学和直接面向消费者的测试对健康差异的影响、健康差异的遗传基础、药物基因组学以及增强代表性不足人群参与精准医学的策略。此外,我们还对未来的实施提出了建议,包括如何减轻基因组服务中的差异,并增强不同群体参与临床试验的程度。