The BabySeq project: implementing genomic sequencing in newborns.
The BabySeq project: implementing genomic sequencing in newborns.
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DOI：
10.1186/s12887-018-1200-1
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发表时间：
2018-07-09
期刊：
影响因子：
2.4
通讯作者：
Beggs AH
中科院分区：
文献类型：
--
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
基因组测序产生终生影响的最大机会是在新生儿时期。 “BabySeq 项目”是一项随机试验，旨在探索将基因组测序整合到健康和患病新生儿的护理中所产生的医学、行为和经济影响。新生儿家庭从波士顿儿童医院和布莱根妇女医院托儿所招募，其中一半被随机接受基因组测序和一份报告，其中包括单基因疾病变异、儿童期发病或可治疗疾病的隐性携带者变异以及药物基因组变异。所有家庭都会参加披露会议，其中包括为测序部门的家庭返回结果。结果是通过审查医疗记录以及对父母和医疗保健提供者进行调查来收集的，包括选择要报告的基因和变异的理由；基因组数据对患病和健康婴儿的医疗管理有何帮助；以及将基因组测序整合到健康和患病新生儿的护理中所产生的医疗、行为和经济影响。 BabySeq 项目将提供有关新生儿基因组测序的风险、收益和成本的经验数据，并将为与新生儿通用基因组筛查相关的政策决策提供信息。该研究已在 ClinicalTrials.gov 上注册，标识符：NCT02422511。注册日期：2015年4月10日。
The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The “BabySeq Project” is a randomized trial that explores the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of healthy and sick newborns. Families of newborns are enrolled from Boston Children’s Hospital and Brigham and Women’s Hospital nurseries, and half are randomized to receive genomic sequencing and a report that includes monogenic disease variants, recessive carrier variants for childhood onset or actionable disorders, and pharmacogenomic variants. All families participate in a disclosure session, which includes the return of results for those in the sequencing arm. Outcomes are collected through review of medical records and surveys of parents and health care providers and include the rationale for choice of genes and variants to report; what genomic data adds to the medical management of sick and healthy babies; and the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of healthy and sick newborns. The BabySeq Project will provide empirical data about the risks, benefits and costs of newborn genomic sequencing and will inform policy decisions related to universal genomic screening of newborns. The study is registered in ClinicalTrials.gov Identifier: NCT02422511. Registration date: 10 April 2015.
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影响因子：
12.3
作者：
Krier J;Barfield R;Green RC;Kraft P
通讯作者：
Kraft P
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：
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影响因子：
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作者：
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