Principles of Genomic Newborn Screening Programs: A Systematic Review.
Principles of Genomic Newborn Screening Programs: A Systematic Review.
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DOI：
10.1001/jamanetworkopen.2021.14336
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发表时间：
2021-07-01
影响因子：
13.8
通讯作者：
Amor DJ
中科院分区：
文献类型：
--
作者：
Downie L;Halliday J;Lewis S;Amor DJ
根据现有证据，应如何设计和实施新生儿基因组筛查(GNBs)计划？这项系统的审查确定了36篇相关文章，以提供在设计GNBS计划时需要考虑的要点。这些包括父母对检测的兴趣和接受；基因选择；临床有效性和实用性；以及伦理、法律和社会影响。研究结果表明，引入GNBs时应考虑到选择、灵活的同意以及透明的基因和疾病选择，最大限度地提高有效性和实用性，同时将不确定性降至最低，并反映社会的伦理价值。这项系统的回顾确定了在报告第一个基因组新生儿筛查试点项目后发现了什么，并总结了这些项目设计的要点。基因组新生儿筛查(GNBs)可能会优化儿童和家庭的健康和福祉。筛查计划必须是以证据为基础的、可接受的和有益的。确定在报告第一批GNBs试点项目后发现了什么，并总结了GNBs的设计要点。2021年4月14日进行了系统的文献综述，确定了36篇文章，涉及以下问题：(1)GNBs的兴趣是什么，会被吸收到什么？(2)应该包括哪些疾病和基因？(3)GNBs的有效性和实用性是什么？以及(4)其伦理、法律和社会影响是什么？只有当文章产生新的证据时，它们才会被包括在内；所有的评论文章都被排除在外。在纳入的36篇文章中，除了基因疾病纳入，这是高度可变的，其他的文章都高度一致。主要结论是需要平等的机会、适当的教育材料以及知情和灵活的同意。选择用于测试的基因的过程应该是透明的，并反映出父母重视预测的确定性而不是可操作性。分析数据时，应尽量减少不确定性和偶然发现。扩大传统新生儿筛查(TNBS)以确定更多危及生命和可治疗的疾病需要与征得新生儿父母同意进行基因组检测的复杂性以及tNBS总体摄入量可能下降的风险进行权衡。这些文献反映，儿童的自决权应该比整个家庭从新生儿基因组测试中受益的可能性更受重视。这项系统审查的结果表明，执行全球环境标准需要采取一种微妙的方法。我们的知识存在差距，例如不同人群的观点、卫生系统的能力以及卫生经济影响。必须严格评估结果，并确保项目能够发展，以实现效益最大化。
Based on current evidence, how should a genomic newborn screening (gNBS) program be designed and implemented? This systematic review identified 36 relevant articles to inform important points to consider in the design of a gNBS program. These covered parental interest and uptake of testing; gene selection; clinical validity and utility; and ethical, legal, and social implications. The findings suggest that gNBS should be introduced with key considerations regarding choice, flexible consent, and transparent gene and disease selection, maximizing validity and utility while minimizing uncertainty and reflecting the ethical values of society. This systematic review identifies what has been discovered following the reporting of the first genomic newborn screening pilot projects and summarizes key points for the design of these programs. Genomic newborn screening (gNBS) may optimize the health and well-being of children and families. Screening programs are required to be evidence based, acceptable, and beneficial. To identify what has been discovered following the reporting of the first gNBS pilot projects and to provide a summary of key points for the design of gNBS. A systematic literature review was performed on April 14, 2021, identifying 36 articles that addressed the following questions: (1) what is the interest in and what would be the uptake of gNBS? (2) what diseases and genes should be included? (3) what is the validity and utility of gNBS? and (4) what are the ethical, legal, and social implications? Articles were only included if they generated new evidence; all opinion pieces were excluded. In the 36 articles included, there was high concordance, except for gene disease inclusion, which was highly variable. Key findings were the need for equitable access, appropriate educational materials, and informed and flexible consent. The process for selecting genes for testing should be transparent and reflect that parents value the certainty of prediction over actionability. Data should be analyzed in a way that minimizes uncertainty and incidental findings. The expansion of traditional newborn screening (tNBS) to identify more life-threatening and treatable diseases needs to be balanced against the complexity of consenting parents of newborns for genomic testing as well as the risk that overall uptake of tNBS may decline. The literature reflected that the right of a child to self-determination should be valued more than the possibility of the whole family benefiting from a newborn genomic test. The findings of this systematic review suggest that implementing gNBS will require a nuanced approach. There are gaps in our knowledge, such as the views of diverse populations, the capabilities of health systems, and health economic implications. It will be essential to rigorously evaluate outcomes and ensure programs can evolve to maximize benefit.
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DOI：
10.1038/gim.2016.193
发表时间：
2017-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Ceyhan-Birsoy O;Machini K;Lebo MS;Yu TW;Agrawal PB;Parad RB;Holm IA;McGuire A;Green RC;Beggs AH;Rehm HL
通讯作者：
Rehm HL
影响因子：
2.4
作者：
Holm IA;Agrawal PB;Ceyhan-Birsoy O;Christensen KD;Fayer S;Frankel LA;Genetti CA;Krier JB;LaMay RC;Levy HL;McGuire AL;Parad RB;Park PJ;Pereira S;Rehm HL;Schwartz TS;Waisbren SE;Yu TW;BabySeq Project Team;Green RC;Beggs AH
通讯作者：
Beggs AH
影响因子：
5.3
作者：
Clark, Michelle M.;Starke, Zornitza;Kingsmore, Stephen F.
通讯作者：
Kingsmore, Stephen F.
影响因子：
2.7
作者：
Friedman, Jan M.;Cornel, Martina C.;Vears, Danya F.
通讯作者：
Vears, Danya F.
DOI：
10.1038/s41436-018-0105-6
发表时间：
2019-03
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Genetti CA;Schwartz TS;Robinson JO;VanNoy GE;Petersen D;Pereira S;Fayer S;Peoples HA;Agrawal PB;Betting WN;Holm IA;McGuire AL;Waisbren SE;Yu TW;Green RC;Beggs AH;Parad RB;BabySeq Project Team
通讯作者：
BabySeq Project Team