• 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

相似文献

1
Clinical utility of genetic and genomic services: context matters.遗传和基因组服务的临床效用：背景很重要。
Genet Med. 2016 Jul;18(7):672-4. doi: 10.1038/gim.2015.153. Epub 2015 Dec 10.
2
Direct-to-consumer genetic testing: the need to get retail genomics right.直接面向消费者的基因检测：正确开展零售基因组学的必要性。
Clin Pharmacol Ther. 2009 Jul;86(1):17-20. doi: 10.1038/clpt.2009.56.
3
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).儿科临床外显子组/基因组测序与参与过程：鼓励与大龄儿童及青少年进行积极沟通：需考虑的要点——美国医学遗传学与基因组学学会（ACMG）声明
Genet Med. 2018 Jul;20(7):692-694. doi: 10.1038/gim.2018.36. Epub 2018 Mar 22.
4
Regulation: The FDA is overcautious on consumer genomics.监管：美国食品药品监督管理局（FDA）对消费者基因组学过于谨慎。
Nature. 2014 Jan 16;505(7483):286-7. doi: 10.1038/505286a.
5
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).孕前/产前携带者筛查的实验室检测：美国医学遗传学与基因组学学会（ACMG）的技术标准。
Genet Med. 2024 Jul;26(7):101137. doi: 10.1016/j.gim.2024.101137. Epub 2024 May 30.
6
ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice.国际妇产科超声学会（ISUOG）关于无创产前检测（NIPT）对产前超声检查实践影响的共识声明。
Ultrasound Obstet Gynecol. 2014 Jul;44(1):122-3. doi: 10.1002/uog.13393. Epub 2014 Jun 3.
7
The genetic testing process: how much counseling is needed?基因检测过程：需要多少咨询？
J Clin Oncol. 2000 Nov 1;18(21 Suppl):60S-4S.
8
Genomic testing: a struggle for oncologists.基因组检测：肿瘤学家面临的一项难题。
J Natl Cancer Inst. 2014 Jun 6;106(6):dju172. doi: 10.1093/jnci/dju172. Print 2014 Jun.
9
Evaluation after five years of the cancer genetic counselling programme of Valencian Community (Eastern Spain).五年后对瓦伦西亚社区（西班牙东部）癌症遗传咨询计划的评估。
Fam Cancer. 2014 Jun;13(2):301-9. doi: 10.1007/s10689-013-9693-0.
10
Personalized medicine: Bring clinical standards to human-genetics research.个性化医疗：将临床标准引入人类遗传学研究。
Nature. 2012 Feb 15;482(7385):300-1. doi: 10.1038/482300a.

引用本文的文献

1
Influence and role of polygenic risk score in the development of 32 complex diseases.多基因风险评分在32种复杂疾病发生发展中的影响及作用
J Glob Health. 2025 Mar 10;15:04071. doi: 10.7189/jogh.15.04071.
2
Predictive Value of c.521T>C Polymorphism on Observed Changes in the Treatment of 1136 Statin-Users.c.521T>C 多态性对 1136 名他汀类药物使用者治疗观察变化的预测价值。
Genes (Basel). 2023 Feb 10;14(2):456. doi: 10.3390/genes14020456.
3
Pharmacogenomics and Pharmacogenetics: In Silico Prediction of Drug Effects in Treatments for Novel Coronavirus SARS-CoV2 Disease.药物基因组学与药物遗传学：新型冠状病毒SARS-CoV2疾病治疗中药物效应的计算机模拟预测
Pharmgenomics Pers Med. 2020 Oct 13;13:463-484. doi: 10.2147/PGPM.S270069. eCollection 2020.
4
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?社会健康决定因素对基因诊断探索之旅的影响：谁未被诊断，原因是什么，以及有何影响？
Pediatr Res. 2021 Jan;89(2):295-300. doi: 10.1038/s41390-020-01151-5. Epub 2020 Sep 15.
5
A proposal of a new evaluation framework towards implementation of genetic tests.一种新的遗传检测实施评估框架的建议
PLoS One. 2019 Aug 5;14(8):e0219755. doi: 10.1371/journal.pone.0219755. eCollection 2019.
6
Integrating Genomics into Healthcare: A Global Responsibility.将基因组学融入医疗保健：全球的责任。
Am J Hum Genet. 2019 Jan 3;104(1):13-20. doi: 10.1016/j.ajhg.2018.11.014.
7
Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.先天性心脏病的基因组学和表观基因组学：非洲的专家评论和经验教训。
OMICS. 2018 May;22(5):301-321. doi: 10.1089/omi.2018.0033.
8
EXAMINING EVIDENCE IN U.S. PAYER COVERAGE POLICIES FOR MULTI-GENE PANELS AND SEQUENCING TESTS.美国支付者对多基因panel 和测序检测的覆盖政策中的证据审查。
Int J Technol Assess Health Care. 2017 Jan;33(4):534-540. doi: 10.1017/S0266462317000903. Epub 2017 Oct 25.
9
Review of the Reported Measures of Clinical Validity and Clinical Utility as Arguments for the Implementation of Pharmacogenetic Testing: A Case Study of Statin-Induced Muscle Toxicity.作为实施药物基因检测依据的临床有效性和临床实用性报告措施综述：以他汀类药物引起的肌肉毒性为例
Front Pharmacol. 2017 Aug 23;8:555. doi: 10.3389/fphar.2017.00555. eCollection 2017.

本文引用的文献

1
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.实现代谢性先天性疾病的“三重目标”：对结果研究的挑战综述及新的基于实践证据框架的提出。
Genet Med. 2013 Jun;15(6):415-22. doi: 10.1038/gim.2012.153. Epub 2012 Dec 6.
2
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children.委员会报告：用于评估新生儿和儿童人群筛查候选条件的方法。
Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04.
3
Outcomes of interest in evidence-based evaluations of genetic tests.基于证据的基因检测评估中的研究结果。
Genet Med. 2010 Apr;12(4):228-35. doi: 10.1097/GIM.0b013e3181cdde04.
4
Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.EGAPP工作组的建议：针对新诊断的结直肠癌患者的基因检测策略，旨在降低亲属患林奇综合征的发病率和死亡率。
Genet Med. 2009 Jan;11(1):35-41. doi: 10.1097/GIM.0b013e31818fa2ff.
5
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group.实践与预防中基因组应用评估（EGAPP）计划：EGAPP工作组方法
Genet Med. 2009 Jan;11(1):3-14. doi: 10.1097/GIM.0b013e318184137c.
6
How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom.如何加强基因检测的评估？从ACCE框架及英国基因检测评估中汲取的经验教训。
Genet Med. 2005 Sep;7(7):495-500. doi: 10.1097/01.gim.0000179941.44494.73.
7
Cascade screening: whose information is it anyway?串联筛查：这到底是谁的信息？
Eur J Hum Genet. 2005 Apr;13(4):397-8. doi: 10.1038/sj.ejhg.5201373.

Clinical utility of genetic and genomic services: context matters.

作者信息

Dotson W David, Bowen M Scott, Kolor Katherine, Khoury Muin J

机构信息

Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

出版信息

Genet Med. 2016 Jul;18(7):672-4. doi: 10.1038/gim.2015.153. Epub 2015 Dec 10.

DOI:10.1038/gim.2015.153
PMID:26656648
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4902786/
Abstract
摘要