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1
Policy brief: Improve coverage of newborn genetic screening to include the Recommended Uniform Screening Panel and newborn screening registry.政策简报：提高新生儿基因筛查覆盖率，纳入推荐统一筛查项目和新生儿筛查登记系统。
Nurs Outlook. 2017 Jul-Aug;65(4):480-484. doi: 10.1016/j.outlook.2017.04.009. Epub 2017 May 8.
2
Newborn screening: toward a uniform screening panel and system.新生儿筛查：迈向统一的筛查项目和系统。
Genet Med. 2006 May;8 Suppl 1(Suppl 1):1S-252S. doi: 10.1097/01.gim.0000223891.82390.ad.
3
Issues with the new developmental screening and surveillance policy statement.新的发育筛查与监测政策声明相关问题。
Pediatrics. 2007 Apr;119(4):861-2; discussion 862-3. doi: 10.1542/peds.2006-3530.
4
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.
5
American Academy of Pediatrics, Committee on Genetics: Issues in newborn screening.美国儿科学会遗传学委员会：新生儿筛查问题
Pediatrics. 1992 Feb;89(2):345-9.
6
Newborn blood spot screening.新生儿血斑筛查
RCM Midwives. 2005 May;8(5):216-8.
7
Expanded newborn genetic testing urged.
JAMA. 2004 Nov 17;292(19):2325-6. doi: 10.1001/jama.292.19.2325.
8
Universal screening for hyperbilirubinemia.
Nurs Womens Health. 2010 Feb;14(1):83-84. doi: 10.1111/j.1751-486X.2010.01516.x.
9
Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.被提名列入推荐统一筛查小组的条件的决策过程：美国卫生与公众服务部部长遗传性新生儿和儿童疾病咨询委员会的声明。
Genet Med. 2014 Feb;16(2):183-7. doi: 10.1038/gim.2013.98. Epub 2013 Aug 1.
10
Expanded newborn screening: anticipating the future.扩大新生儿筛查：展望未来。
RCM Midwives. 2005 Aug;8(8):350-3.

引用本文的文献

1
Integrating genomics into Canadian oncology nursing policy: Insights from a comparative policy analysis.将基因组学纳入加拿大肿瘤护理政策：来自比较政策分析的见解。
J Adv Nurs. 2024 Nov;80(11):4488-4509. doi: 10.1111/jan.16099. Epub 2024 Mar 21.
2
Nurses' Knowledge, Attitudes, Confidence, and Practices with Genetics and Genomics: A Theory-Informed Integrative Review Protocol.护士在遗传学和基因组学方面的知识、态度、信心及实践：一项基于理论的综合综述方案
J Pers Med. 2022 Aug 24;12(9):1358. doi: 10.3390/jpm12091358.
3
Neonatal Screening for Congenital Metabolic and Endocrine Disorders–Results From Germany for the Years 2006–2018.新生儿先天性代谢和内分泌疾病筛查——2006-2018 年德国的结果。
Dtsch Arztebl Int. 2021 Feb 19;118(7):101-108. doi: 10.3238/arztebl.m2021.0009.
4
Current status and future directions of U.S. genomic nursing health care policy.美国基因组护理医疗政策的现状和未来方向。
Nurs Outlook. 2021 May-Jun;69(3):471-488. doi: 10.1016/j.outlook.2020.12.006. Epub 2021 Jan 22.
5
Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection.用于质谱检测的扩展型全自动新生儿筛查方法
Int J Neonatal Screen. 2017 Dec 29;4(1):2. doi: 10.3390/ijns4010002. eCollection 2018 Mar.
6
Joint Influence of SNPs and DNA Methylation on Lipids in African Americans From Hypertensive Sibships.单核苷酸多态性（SNPs）与DNA甲基化对高血压同胞关系的非裔美国人脂质的联合影响
Biol Res Nurs. 2018 Mar;20(2):161-167. doi: 10.1177/1099800417752246. Epub 2018 Jan 16.
7
Improving -Omics-Based Research and Precision Health in Minority Populations: Recommendations for Nurse Scientists.改善基于组学的少数民族人群研究和精准健康：护士科学家的建议。
J Nurs Scholarsh. 2018 Jan;50(1):11-19. doi: 10.1111/jnu.12358. Epub 2017 Nov 15.

本文引用的文献

1
Genome Sequencing Technologies and Nursing: What Are the Roles of Nurses and Nurse Scientists?基因组测序技术与护理：护士及护士科学家的角色是什么？
Nurs Res. 2017 Mar/Apr;66(2):198-205. doi: 10.1097/NNR.0000000000000211.
2
Genomic newborn screening: public health policy considerations and recommendations.基因组新生儿筛查：公共卫生政策考量与建议
BMC Med Genomics. 2017 Feb 21;10(1):9. doi: 10.1186/s12920-017-0247-4.
3
Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis.通过DNA拷贝数分析提高产前筛查的准确性。
N Engl J Med. 2017 Jan 12;376(2):188-189. doi: 10.1056/NEJMc1604205.
4
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.临床外显子组和基因组测序中次要发现报告的建议，2016年更新版（美国医学遗传学与基因组学学会次要发现v2.0）：美国医学遗传学与基因组学学会政策声明
Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17.
5
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.欧洲裔和非裔美国人中可操作疾病的基因组变异的综合外显率。
Sci Transl Med. 2016 Nov 9;8(364):364ra151. doi: 10.1126/scitranslmed.aag2367.
6
Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs.新生儿全基因组筛查？国家新生儿筛查项目的宪法界限。
Pediatrics. 2016 Jan;137 Suppl 1(Suppl 1):S8-15. doi: 10.1542/peds.2015-3731D.
7
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.全基因组测序在 1696 例新生儿队列中检测新生儿筛查疾病的效用。
Genet Med. 2016 Mar;18(3):221-30. doi: 10.1038/gim.2015.111. Epub 2015 Sep 3.
8
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.美国医学遗传学与基因组学学会政策声明：关于临床全基因组测序中次要发现的分析和报告的更新建议
Genet Med. 2015 Jan;17(1):68-9. doi: 10.1038/gim.2014.151. Epub 2014 Nov 13.
9
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.临床测序探索研究联盟中基因组序列数据中可操作基因的识别的过程和初步结果。
Genet Med. 2013 Nov;15(11):860-7. doi: 10.1038/gim.2013.133. Epub 2013 Oct 24.
10
Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.被提名列入推荐统一筛查小组的条件的决策过程：美国卫生与公众服务部部长遗传性新生儿和儿童疾病咨询委员会的声明。
Genet Med. 2014 Feb;16(2):183-7. doi: 10.1038/gim.2013.98. Epub 2013 Aug 1.

Policy brief: Improve coverage of newborn genetic screening to include the Recommended Uniform Screening Panel and newborn screening registry.

作者信息

Starkweather Angela, Coleman Bernice, Barcelona de Mendoza Veronica, Fu Mei, Taylor Jacquelyn, Henderson Wendy, Kenner Carole, Walker Deborah, Amankwaa Linda, Anderson Cindy

机构信息

Genomic Nursing & Health Care Expert Panel.

Genomic Nursing & Health Care Expert Panel.

出版信息

Nurs Outlook. 2017 Jul-Aug;65(4):480-484. doi: 10.1016/j.outlook.2017.04.009. Epub 2017 May 8.

DOI:10.1016/j.outlook.2017.04.009
PMID:28601255
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5771243/
Abstract
摘要