• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

评估和实施人类基因组测序以改善健康的适当应用的合作转化研究框架。

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.

机构信息

Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, United States of America.

Maine-Dartmouth Family Medicine Residency Program, Augusta, Maine, United States of America.

出版信息

PLoS Med. 2018 Aug 2;15(8):e1002631. doi: 10.1371/journal.pmed.1002631. eCollection 2018 Aug.

DOI:10.1371/journal.pmed.1002631
PMID:30071015
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6071954/
Abstract

In a Policy Forum, Muin Khoury and colleagues discuss research on the clinical application of genome sequencing data.

摘要

在政策论坛中，Muin Khoury 及其同事讨论了基因组测序数据临床应用的研究。

相似文献

1
A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.评估和实施人类基因组测序以改善健康的适当应用的合作转化研究框架。
PLoS Med. 2018 Aug 2;15(8):e1002631. doi: 10.1371/journal.pmed.1002631. eCollection 2018 Aug.
2
Translating personalized genomic medicine into clinical practice: evidence, values, and health policy.将个性化基因组医学转化为临床实践：证据、价值观与卫生政策。
Genome. 2015 Dec;58(12):491-7. doi: 10.1139/gen-2015-0145. Epub 2015 Nov 18.
3
Continued importance in translation from research to health policy in China.在中国，从研究到卫生政策的转化中持续具有重要性。
J Transl Med. 2016 Sep 20;14:272. doi: 10.1186/s12967-016-1021-7.
4
Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.更正：一个用于评估和实施人类基因组测序的合理使用以改善健康状况的协作性转化研究框架。
PLoS Med. 2018 Aug 16;15(8):e1002650. doi: 10.1371/journal.pmed.1002650. eCollection 2018 Aug.
5
Physician professionalism and accountability: the role of collaborative improvement networks.医师的专业性和责任感：合作改进网络的作用。
Pediatrics. 2013 Jun;131 Suppl 4:S204-9. doi: 10.1542/peds.2012-3786G.
6
Shared decision making: Implications for return of results from whole-exome and whole-genome sequencing.共享决策：全外显子组测序和全基因组测序结果回报的影响。
Transl Behav Med. 2018 Jan 29;8(1):80-84. doi: 10.1093/tbm/ibx048.
7
Translating tuberculosis research into global policies: the example of an international collaboration on diagnostics.将结核病研究转化为全球政策：以诊断国际合作为例。
Int J Tuberc Lung Dis. 2011 Oct;15(10):1283-93. doi: 10.5588/ijtld.11.0297.
8
Cancer genome sequencing and functional genomics: from translational to clinical medicine.癌症基因组测序与功能基因组学：从转化医学到临床医学
Pharmacogenomics. 2011 Oct;12(10):1371-4. doi: 10.2217/pgs.11.108.
9
Transferring research from researchers to knowledge users: the importance of relationships and getting them right.将研究成果从研究人员传递给知识使用者：关系的重要性及正确处理这些关系
J Health Serv Res Policy. 2016 Apr;21(2):134-6. doi: 10.1177/1355819615602030. Epub 2015 Sep 30.
10
Precision Medicine, Genome Sequencing, and Improved Population Health.精准医学、基因组测序与改善人群健康。
JAMA. 2018 May 15;319(19):1979-1980. doi: 10.1001/jama.2018.2925.

引用本文的文献

1
Using large-scale population-based data to improve disease risk assessment of clinical variants.利用基于大规模人群的数据改进临床变异的疾病风险评估。
Nat Genet. 2025 Jun 23. doi: 10.1038/s41588-025-02212-3.
2
Genetic screening of liver cancer: State of the art.肝癌的基因筛查：当前技术水平
World J Hepatol. 2024 May 27;16(5):716-730. doi: 10.4254/wjh.v16.i5.716.
3
Genetic Screening-Emerging Issues.遗传筛查——新出现的问题。
Genes (Basel). 2024 May 3;15(5):581. doi: 10.3390/genes15050581.
4
Whole genome sequencing and phylogenetic analysis of SARS-CoV-2 strains isolated during the COVID-19 pandemic in Nigeria.在尼日利亚新冠疫情期间分离出的严重急性呼吸综合征冠状病毒2（SARS-CoV-2）毒株的全基因组测序及系统发育分析
IJID Reg. 2024 Jan 17;10:174-178. doi: 10.1016/j.ijregi.2024.01.005. eCollection 2024 Mar.
5
Unexpected High Need for Genetic Testing in Rheumatology: A Cross-Sectional Cohort Study.意料之外的风湿科基因检测高需求：一项横断面队列研究。
Genes (Basel). 2023 Sep 24;14(10):1858. doi: 10.3390/genes14101858.
6
Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.儿童期基于年龄的基因组筛查：公共卫生基因组学实施中的伦理与实际考量
Int J Neonatal Screen. 2023 Jun 27;9(3):36. doi: 10.3390/ijns9030036.
7
Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers.患有乳腺癌、卵巢癌及其他癌症的致病性/可能致病性变异患者。
Balkan J Med Genet. 2023 May 2;25(2):5-14. doi: 10.2478/bjmg-2022-0023. eCollection 2023 May.
8
Investigating Psychological Impact after Receiving Genetic Risk Results-A Survey of Participants in a Population Genomic Screening Program.接受基因风险结果后的心理影响调查——一项针对人群基因组筛查项目参与者的调查
J Pers Med. 2022 Nov 22;12(12):1943. doi: 10.3390/jpm12121943.
9
The social construction of genomics and genetic analysis in ocular diseases in Ibadan, South-western Nigeria.尼日利亚西南部伊巴丹的眼疾中基因组学和遗传分析的社会构建。
PLoS One. 2022 Dec 1;17(12):e0278286. doi: 10.1371/journal.pone.0278286. eCollection 2022.
10
Editorial: DNA-based population screening for precision public health.社论：基于DNA的精准公共卫生人群筛查
Front Genet. 2022 Oct 24;13:1061329. doi: 10.3389/fgene.2022.1061329. eCollection 2022.

本文引用的文献

1
The personal and clinical utility of polygenic risk scores.多基因风险评分的个体和临床效用。
Nat Rev Genet. 2018 Sep;19(9):581-590. doi: 10.1038/s41576-018-0018-x.
2
Cardiovascular disease: The rise of the genetic risk score.心血管疾病：遗传风险评分的崛起。
PLoS Med. 2018 Mar 30;15(3):e1002546. doi: 10.1371/journal.pmed.1002546. eCollection 2018 Mar.
3
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.将全基因组测序整合到初级保健和心脏病学环境中的短期成本：一项试点随机试验。
Genet Med. 2018 Dec;20(12):1544-1553. doi: 10.1038/gim.2018.35. Epub 2018 Mar 22.
4
Precision Medicine, Genome Sequencing, and Improved Population Health.精准医学、基因组测序与改善人群健康。
JAMA. 2018 May 15;319(19):1979-1980. doi: 10.1001/jama.2018.2925.
5
Pharmacogenomic Testing and Warfarin: What Evidence Has the GIFT Trial Provided?药物基因组学检测与华法林：GIFT试验提供了哪些证据？
JAMA. 2017 Sep 26;318(12):1110-1112. doi: 10.1001/jama.2017.11465.
6
Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.在基因组医学中导航研究-临床界面：CSER 联盟的分析。
Genet Med. 2018 Apr;20(5):545-553. doi: 10.1038/gim.2017.137. Epub 2017 Aug 31.
7
Charting Our Future Together: Turning Discovery Science Into Cardiovascular Health.共同绘制我们的未来：将发现科学转化为心血管健康。
Circulation. 2017 Aug 15;136(7):615-617. doi: 10.1161/CIRCULATIONAHA.117.022149.
8
A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system.一种在学习型健康系统背景下加速基于基因组技术的证据生成的方法。
Genet Med. 2018 Apr;20(4):390-396. doi: 10.1038/gim.2017.122. Epub 2017 Aug 10.
9
Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.家族性高胆固醇血症的级联筛查与基因检测的应用
JAMA. 2017 Jul 25;318(4):381-382. doi: 10.1001/jama.2017.8543.
10
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.全基因组测序对健康成年患者的初级保健和结局的影响：一项先导随机试验。
Ann Intern Med. 2017 Jun 27;167(3):159-169. doi: 10.7326/M17-0188. Print 2017 Aug 1.