• 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

英国国民保健制度将基因组医学纳入主流患者护理。

Integration of genomic medicine to mainstream patient care within the UK National Health Service.

机构信息

Centre for Public Health, School of Medicine, Dentistry & Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom.

Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom.

出版信息

Ulster Med J. 2024 Nov;93(3):111-118. Epub 2024 Nov 26.

PMID:39606143
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11591220/
Abstract

The integration of genomic medicine within mainstream patient care promises advances in healthcare and potential benefits for disease prediction and personalised treatment approaches. This paper explores the challenges of integrating genomic medicine within the UK's National Health Service (NHS) and potential solutions for alignment with the NHS's proposed long-term plan and Genome UK strategy. Critical challenges and knowledge gaps have been identified, including a referral-dependent system, unclear eligibility criteria, lack of policies and guidelines, gaps in clinical genomic competence, genomic sequencing costs, equity issues for genomic testing access across the UK, and data management and patient privacy concerns. Proposed solutions and future directions include extending genetic test ordering authority to include mainstream clinicians and establishing unambiguous eligibility criteria, policies and guidelines through a developing trained workforce and appropriate patient engagement. Moreover, expanded Whole Genome Sequencing (WGS) and pharmacogenomic testing approaches through up-scaling genomic sequencing capacity and standardising genetic testing across the UK will lower consumable costs. Leveraging artificial intelligence (AI) and data warehousing approaches will improve data management, particularly in the context of integration within electronic health records. In summary, the successful integration of genomic medicine within mainstream patient care holds transformative potential for healthcare provision. By recognising the challenges identified and embracing the proposed solutions, healthcare systems can revolutionise patient outcomes, advancing precision medicine and shaping the future of genomic-driven healthcare.

摘要

基因组医学与主流患者护理的整合有望推动医疗保健的发展,并为疾病预测和个性化治疗方法带来潜在益处。本文探讨了在英国国民保健制度(NHS)中整合基因组医学所面临的挑战,以及与 NHS 拟议的长期计划和英国基因组组织战略保持一致的潜在解决方案。已经确定了关键的挑战和知识差距,包括依赖转诊的系统、不明确的资格标准、缺乏政策和指南、临床基因组能力方面的差距、基因组测序成本、英国各地基因组检测准入的公平性问题,以及数据管理和患者隐私问题。拟议的解决方案和未来方向包括将遗传测试订单权限扩展到包括主流临床医生,并通过培养有能力的劳动力和适当的患者参与来建立明确的资格标准、政策和指南。此外,通过扩大基因组测序能力和在英国范围内标准化遗传测试,扩大全基因组测序(WGS)和药物基因组学测试方法将降低消耗品成本。利用人工智能(AI)和数据仓库方法将改善数据管理,特别是在电子健康记录整合方面。总之,基因组医学在主流患者护理中的成功整合为医疗保健提供带来了变革性的潜力。通过认识到所确定的挑战并采用所提出的解决方案,医疗保健系统可以彻底改变患者的治疗效果,推进精准医疗,并塑造基因组驱动的医疗保健的未来。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3487/11591220/596e50e0f7d1/umj-93-03-111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3487/11591220/596e50e0f7d1/umj-93-03-111-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3487/11591220/596e50e0f7d1/umj-93-03-111-g001.jpg

相似文献

1
Integration of genomic medicine to mainstream patient care within the UK National Health Service.英国国民保健制度将基因组医学纳入主流患者护理。
Ulster Med J. 2024 Nov;93(3):111-118. Epub 2024 Nov 26.
2
Pharmacogenomics in the UK National Health Service: opportunities and challenges.英国国民保健制度中的药物基因组学:机遇与挑战。
Pharmacogenomics. 2020 Nov;21(17):1237-1246. doi: 10.2217/pgs-2020-0091. Epub 2020 Oct 29.
3
The rise of the genome and personalised medicine.基因组学和个性化医学的兴起。
Clin Med (Lond). 2017 Dec;17(6):545-551. doi: 10.7861/clinmedicine.17-6-545.
4
Genomic medicine and risk prediction across the disease spectrum.基因组医学与疾病谱中的风险预测。
Crit Rev Clin Lab Sci. 2015;52(3):120-37. doi: 10.3109/10408363.2014.997930. Epub 2015 Jan 19.
5
Integrating genomics into clinical oncology: ethical and social challenges from proponents of personalized medicine.将基因组学整合到临床肿瘤学中:个性化医疗支持者面临的伦理和社会挑战。
Urol Oncol. 2014 Feb;32(2):187-92. doi: 10.1016/j.urolonc.2013.10.009.
6
Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network.在不同环境中实施基因组服务的挑战与策略:来自“实践中实施基因组学(IGNITE)”网络的经验
BMC Med Genomics. 2017 May 22;10(1):35. doi: 10.1186/s12920-017-0273-2.
7
Welcome to the new genomics: an introduction to the NHS Genomic Medicine Service for oral healthcare professionals.欢迎来到新的基因组学:面向口腔医疗专业人员的英国国家医疗服务体系基因组医学服务介绍。
Br Dent J. 2020 Nov;229(10):682-686. doi: 10.1038/s41415-020-2348-2. Epub 2020 Nov 27.
8
Imagining genomic medicine futures in primary care: General practitioners' views on mainstreaming genomics in the National Health Service.想象初级保健中的基因组医学未来:全科医生对国民保健制度中基因组学主流化的看法。
Sociol Health Illn. 2021 Nov;43(9):2121-2140. doi: 10.1111/1467-9566.13384. Epub 2021 Nov 13.
9
How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?法律如何支持基因组学和精准医学的发展,以促进健康公平,减少差距?
Ethn Dis. 2019 Dec 12;29(Suppl 3):623-628. doi: 10.18865/ed.29.S3.623. eCollection 2019.
10
"A very big challenge": a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England.“一项巨大挑战”:一项定性研究,旨在探索在英格兰实施国家基因组医学服务的早期障碍与推动因素。
Front Genet. 2024 Jan 4;14:1282034. doi: 10.3389/fgene.2023.1282034. eCollection 2023.

引用本文的文献

1
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.主流医疗保健中用于罕见病的基因组测序技术:实施现状
Eur J Hum Genet. 2025 Aug 22. doi: 10.1038/s41431-025-01925-7.
2
Academic and clinical perspectives of metagenome sequencing as a diagnostic tool for infectious disease: an interpretive phenomenological study.宏基因组测序作为传染病诊断工具的学术与临床视角:一项解释现象学研究
BMC Infect Dis. 2025 Mar 31;25(1):448. doi: 10.1186/s12879-025-10820-x.

本文引用的文献

1
Competencies of the UK nursing and midwifery workforce to mainstream genomics in the National Health Service: the ongoing gap between perceived importance and confidence in genomics.英国护理和助产人员在国民医疗服务体系中使基因组学成为主流的能力:对基因组学的认知重要性与信心之间仍存在差距。
Front Genet. 2023 Jun 16;14:1125599. doi: 10.3389/fgene.2023.1125599. eCollection 2023.
2
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction.快速基因组测序诊断肝功能障碍的儿科患者。
J Pediatr. 2023 Sep;260:113534. doi: 10.1016/j.jpeds.2023.113534. Epub 2023 Jun 2.
3
Microcosting diagnostic genomic sequencing: A systematic review.
微成本诊断基因组测序:系统评价。
Genet Med. 2023 Jun;25(6):100829. doi: 10.1016/j.gim.2023.100829. Epub 2023 Mar 16.
4
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.一个 12 基因药物遗传学检测面板以预防药物不良反应:一项开放标签、多中心、对照、集群随机交叉实施研究。
Lancet. 2023 Feb 4;401(10374):347-356. doi: 10.1016/S0140-6736(22)01841-4.
5
The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review.大规模基因组筛查或诊断计划的实施:快速证据回顾。
Eur J Hum Genet. 2023 Mar;31(3):282-295. doi: 10.1038/s41431-022-01259-8. Epub 2022 Dec 14.
6
ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation.ClinPharmSeq:用于临床药物基因组学实施的靶向测序面板。
PLoS One. 2022 Jul 28;17(7):e0272129. doi: 10.1371/journal.pone.0272129. eCollection 2022.
7
A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.北爱尔兰全基因组测序实施情况的形成性研究。
Genes (Basel). 2022 Jun 21;13(7):1104. doi: 10.3390/genes13071104.
8
Adverse drug reactions, multimorbidity and polypharmacy: a prospective analysis of 1 month of medical admissions.药物不良反应、多种合并症和多种药物治疗:对 1 个月医疗入院的前瞻性分析。
BMJ Open. 2022 Jul 4;12(7):e055551. doi: 10.1136/bmjopen-2021-055551.
9
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.英国国家医疗服务体系 10 万基因组计划:集中式基因组测序在儿童癌症中的可行性和实用性。
Br J Cancer. 2022 Jul;127(1):137-144. doi: 10.1038/s41416-022-01788-5. Epub 2022 Apr 22.
10
Residual ctDNA after treatment predicts early relapse in patients with early-stage non-small cell lung cancer.治疗后残留 ctDNA 可预测早期非小细胞肺癌患者的早期复发。
Ann Oncol. 2022 May;33(5):500-510. doi: 10.1016/j.annonc.2022.02.007. Epub 2022 Mar 17.