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.
Abstract
摘要
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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。
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本文引用的文献
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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.
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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.
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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.
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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.
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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.
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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.
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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。
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Genet Med. 2014 Feb;16(2):183-7. doi: 10.1038/gim.2013.98. Epub 2013 Aug 1.
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