• 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

遗传学与初级保健:提高认识与加强合作。

Genetics and Primary Care: Raising Awareness and Enhancing Cooperation.

机构信息

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri.

出版信息

Mo Med. 2024 Jul-Aug;121(4):277-283.

PMID:39575065
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11578565/
Abstract

The rapid evolution of the field of genetics in the past several years has opened new opportunities for diagnosis of treatment of genetic disorders. However, the limited availability of medical geneticists has led to difficulty in meeting this evolving need. Integrating awareness of genetic disorders and genetic screening into primary care may facilitate early diagnosis, while strategic support and cooperative care between primary care physicians and geneticists can improve long term management.

摘要

近年来,遗传学领域的快速发展为遗传疾病的诊断和治疗开辟了新的机会。然而,医学遗传学家的数量有限,导致难以满足这一不断发展的需求。将遗传疾病意识和基因筛查纳入初级保健中,可以促进早期诊断,而初级保健医生和遗传学家之间的战略支持和合作护理可以改善长期管理。

相似文献

1
Genetics and Primary Care: Raising Awareness and Enhancing Cooperation.遗传学与初级保健:提高认识与加强合作。
Mo Med. 2024 Jul-Aug;121(4):277-283.
2
Primary care physicians as providers of frontline genetic services.基层医疗医生作为一线基因服务的提供者。
Fetal Diagn Ther. 1993 Apr;8 Suppl 1:213-9. doi: 10.1159/000263890.
3
Next-generation human genetics.下一代人类遗传学。
Genome Biol. 2011 Sep 14;12(9):408. doi: 10.1186/gb-2011-12-9-408.
4
Recommendations of the European society of human genetics on genetic testing for common disorders.欧洲人类遗传学会关于常见疾病基因检测的建议。
Genet Test Mol Biomarkers. 2011 May;15(5):291-2. doi: 10.1089/gtmb.2011.1519.
5
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.全基因组测序在加拿大单基因疾病中的临床应用:加拿大医学遗传学家学院立场声明
J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7.
6
RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.RNA剪接与基因检测:遗传疾病中剪接缺陷的检测与解读
Eur J Hum Genet. 2010 Jun;18(6):737-8. doi: 10.1038/ejhg.2010.18. Epub 2010 Feb 24.
7
Revisiting the Roles of Primary Care Clinicians in Genetic Medicine.重新审视基层医疗临床医生在基因医学中的作用。
JAMA. 2020 Oct 27;324(16):1607-1608. doi: 10.1001/jama.2020.18745.
8
Genetics of common disease: a primary care priority aligned with a teachable moment?常见疾病的遗传学:与一个可教育时机相契合的基层医疗重点?
Genet Med. 2008 Feb;10(2):81-2. doi: 10.1097/GIM.0b013e3181639a6d.
9
Genetics and genomic medicine in Sri Lanka.斯里兰卡的遗传学和基因组医学。
Mol Genet Genomic Med. 2019 Jun;7(6):e744. doi: 10.1002/mgg3.744. Epub 2019 May 20.
10
Oversight of genetic testing: an update.基因检测的监管:最新情况
J Mol Diagn. 2001 Aug;3(3):85-91. doi: 10.1016/S1525-1578(10)60656-3.

本文引用的文献

1
Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.门诊初级保健基因检测入门:应检测什么项目及检测考虑因素。
Mo Med. 2022 Jul-Aug;119(4):390-396.
2
Genetic Testing: Disclosure to Patients and Payors and the Risks In Between.基因检测:向患者及支付方的披露与其间的风险
Mo Med. 2022 Jul-Aug;119(4):329-332.
3
Ethical Considerations in Precision Medicine and Genetic Testing in Internal Medicine Practice: A Position Paper From the American College of Physicians.精准医学和内科实践中的遗传检测中的伦理考量:美国医师学院的立场文件。
Ann Intern Med. 2022 Sep;175(9):1322-1323. doi: 10.7326/M22-0743. Epub 2022 Jul 26.
4
Primary care physician referral practices regarding BRCA1/2 genetic counseling in a major health system.主要医疗保健系统中初级保健医生对 BRCA1/2 基因咨询的转诊实践。
Breast Cancer Res Treat. 2022 Sep;195(2):153-160. doi: 10.1007/s10549-022-06523-5. Epub 2022 Jul 16.
5
Health Supervision for Children and Adolescents With Down Syndrome.唐氏综合征儿童和青少年的健康监督
Pediatrics. 2022 May 1;149(5). doi: 10.1542/peds.2022-057010.
6
Case-finding and genetic testing for familial hypercholesterolaemia in primary care.在初级保健中进行家族性高胆固醇血症的病例发现和基因检测。
Heart. 2021 Dec;107(24):1956-1961. doi: 10.1136/heartjnl-2021-319742. Epub 2021 Sep 14.
7
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).外显子组和基因组测序用于患有先天畸形或智力障碍的儿科患者:美国医学遗传学与基因组学学会(ACMG)的循证临床指南。
Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1.
8
Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial.比较在两个医疗保健系统中符合遗传评估标准的初级保健患者中提供癌症遗传学服务的交付模式:BRIDGE 随机对照试验。
BMC Health Serv Res. 2021 Jun 2;21(1):542. doi: 10.1186/s12913-021-06489-y.
9
Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder.自闭症谱系障碍基因检测的致病性产出。
Pediatrics. 2020 Oct;146(4). doi: 10.1542/peds.2019-3211. Epub 2020 Sep 16.
10
Breast Cancer Risk Assessment: A Step-Wise Approach for Primary Care Providers on the Front Lines of Shared Decision Making.乳腺癌风险评估:一线初级保健提供者实施共享决策的分步方法。
Mayo Clin Proc. 2020 Jun;95(6):1268-1275. doi: 10.1016/j.mayocp.2020.04.017.