• 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

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.

作者信息

Baple Emma L, Scott Richard H, Banka Siddharth, Buchanan James, Fish Louise, Wynn Sarah, Wilkinson Dominic, Ellard Sian, MacArthur Daniel G, Stark Zornitza

机构信息

RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.

Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.

出版信息

Nat Med. 2024 Jul;30(7):1823-1825. doi: 10.1038/s41591-024-03055-x.

DOI:10.1038/s41591-024-03055-x
PMID:38898121
Abstract
摘要

相似文献

1
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.探索针对罕见病的基因组新生儿筛查的益处、危害和成本。
Nat Med. 2024 Jul;30(7):1823-1825. doi: 10.1038/s41591-024-03055-x.
2
Sequencing projects will screen 200,000 newborns for disease.测序项目将对20万名新生儿进行疾病筛查。
Science. 2022 Dec 16;378(6625):1159. doi: 10.1126/science.adg2858. Epub 2022 Dec 15.
3
Cost-Effectiveness Methods and Newborn Screening Assessment.成本效益分析方法与新生儿筛查评估。
Adv Exp Med Biol. 2017;1031:267-281. doi: 10.1007/978-3-319-67144-4_16.
4
Cost-effectiveness of neonatal screening for Duchenne muscular dystrophy--how does this compare to existing neonatal screening for metabolic disorders?
Soc Sci Med. 1993 Aug;37(4):541-7. doi: 10.1016/0277-9536(93)90289-g.
5
Is the ``$1000 Genome'' really $1000? Understanding the full benefits and costs of genomic sequencing.“千美元基因组”真的只需1000美元吗？了解基因组测序的全部益处与成本。
Technol Health Care. 2015;23(3):373-9. doi: 10.3233/THC-150900.
6
A primer on economic evaluations related to expansion of newborn screening for genetic and metabolic disorders.关于与扩大遗传性和代谢性疾病新生儿筛查相关的经济评估入门指南。
J Obstet Gynecol Neonatal Nurs. 2006 Nov-Dec;35(6):692-9. doi: 10.1111/j.1552-6909.2006.00098.x.
7
Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.在诊断过程的早期进行基因组测序是否有影响？一项关于临床结局和成本效益的随访研究。
Genet Med. 2019 Jan;21(1):173-180. doi: 10.1038/s41436-018-0006-8. Epub 2018 May 15.
8
Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease.针对罕见儿童疾病的危险且昂贵的筛查与治疗：以克拉伯病为例。
Dev Disabil Res Rev. 2011;17(1):15-8. doi: 10.1002/ddrr.133.
9
Commercial Interests, the Technological Imperative, and Advocates: Three Forces Driving Genomic Sequencing in Newborns.商业利益、技术需求与倡导者：推动新生儿基因组测序的三股力量。
Hastings Cent Rep. 2018 Jul;48 Suppl 2:S43-S44. doi: 10.1002/hast.885.
10
Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.罕见病的遗传新生儿筛查作为未来基因组医学的门户：Screen4Care EU-IMI 项目。
Orphanet J Rare Dis. 2023 Oct 4;18(1):310. doi: 10.1186/s13023-023-02916-x.

引用本文的文献

1
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.早期筛查项目中扩展基因组新生儿筛查的可行性及临床应用价值
Nat Med. 2025 Sep 5. doi: 10.1038/s41591-025-03945-8.
2
[Genetic screening and follow-up results in 3 001 newborns in the Yunnan region].[云南地区3001例新生儿的基因筛查及随访结果]
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Jun 15;27(6):654-660. doi: 10.7499/j.issn.1008-8830.2412134.
3
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.

本文引用的文献

1
Population screening requires robust evidence-genomics is no exception.人群筛查需要有力的证据——基因组学也不例外。
Lancet. 2024 Feb 10;403(10426):583-586. doi: 10.1016/S0140-6736(23)02295-X. Epub 2023 Dec 6.
2
To boldly go: Unpacking the NHGRI's bold predictions for human genomics by 2030.勇往直前：解读 NHGRI 到 2030 年人类基因组学的大胆预测。
Am J Hum Genet. 2023 Nov 2;110(11):1829-1831. doi: 10.1016/j.ajhg.2023.09.010.
3
Determining the utility of diagnostic genomics: a conceptual framework.确定诊断基因组学的实用性：一个概念框架。
公众对基因组新生儿筛查的价值和实施的偏好：来自澳大利亚两项离散选择实验的见解。
Am J Hum Genet. 2025 Jul 3;112(7):1515-1527. doi: 10.1016/j.ajhg.2025.05.001. Epub 2025 May 28.
4
Tension between the need for certainty and numerous uncertainties-A focus group study on various perspectives on a potential genomic newborn screening program in Germany.确定性需求与诸多不确定性之间的矛盾——一项关于德国潜在基因组新生儿筛查项目不同观点的焦点小组研究
J Genet Couns. 2025 Jun;34(3):e70004. doi: 10.1002/jgc4.70004.
5
Data-driven consideration of genetic disorders for global genomic newborn screening programs.全球基因组新生儿筛查计划中基于数据对遗传疾病的考量。
Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9.
6
The Health Economics of Genomic Technologies: A Growing Evidence Base on Value.基因组技术的卫生经济学：基于价值的证据基础不断扩大。
Appl Health Econ Health Policy. 2025 May;23(3):331-335. doi: 10.1007/s40258-025-00970-z. Epub 2025 Apr 28.
7
Newborn screening for central congenital hypothyroidism: past, present and future.新生儿先天性中枢性甲状腺功能减退症筛查：过去、现在与未来
Eur Thyroid J. 2025 Feb 19;14(1). doi: 10.1530/ETJ-24-0329. Print 2025 Feb 1.
8
Feasibility of newborn screening for pyridoxine-dependent epilepsy.新生儿筛查吡哆醇依赖性癫痫的可行性。
Mol Genet Metab. 2025 Jan;144(1):109002. doi: 10.1016/j.ymgme.2024.109002. Epub 2024 Dec 16.
9
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism.将基因组新生儿筛查作为一种有效的公共卫生干预措施来实施：避开炒作与批评。
NPJ Genom Med. 2024 Dec 19;9(1):70. doi: 10.1038/s41525-024-00451-7.
10
Reduced Penetrance is Common Among Predicted Loss-of-Function Variants and is Likely Driven by Residual Allelic Activity.预测的功能丧失变异中，降低的外显率很常见，且可能由残余等位基因活性驱动。
medRxiv. 2025 Mar 20:2024.09.23.24314008. doi: 10.1101/2024.09.23.24314008.
Hum Genomics. 2023 Aug 16;17(1):75. doi: 10.1186/s40246-023-00524-1.
4
Genomic newborn screening for rare diseases.针对罕见病的基因组新生儿筛查。
Nat Rev Genet. 2023 Nov;24(11):755-766. doi: 10.1038/s41576-023-00621-w. Epub 2023 Jun 29.
5
Integrated multi-omics for rapid rare disease diagnosis on a national scale.基于一体化多组学的全国范围罕见病快速诊断
Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8.
6
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.澳大利亚基因组学：5 年国家计划加速基因组学在医疗保健中的整合的结果。
Am J Hum Genet. 2023 Mar 2;110(3):419-426. doi: 10.1016/j.ajhg.2023.01.018.
7
A perspective on life-cycle health technology assessment and real-world evidence for precision oncology in Canada.加拿大生命周期健康技术评估与精准肿瘤学真实世界证据的视角
NPJ Precis Oncol. 2022 Oct 25;6(1):76. doi: 10.1038/s41698-022-00316-1.
8
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.一种用于严重遗传疾病的通用新生儿筛查、诊断和精准医学的基因组测序系统。
Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24.
9
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.10 万基因组计划在医疗保健中的罕见病诊断 - 初步报告。
N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790.
10
Availability and funding of clinical genomic sequencing globally.全球临床基因组测序的可及性和资金情况。
BMJ Glob Health. 2021 Feb;6(2). doi: 10.1136/bmjgh-2020-004415.