Holm Ingrid A, Agrawal Pankaj B, Ceyhan-Birsoy Ozge, Christensen Kurt D, Fayer Shawn, Frankel Leslie A, Genetti Casie A, Krier Joel B, LaMay Rebecca C, Levy Harvey L, McGuire Amy L, Parad Richard B, Park Peter J, Pereira Stacey, Rehm Heidi L, Schwartz Talia S, Waisbren Susan E, Yu Timothy W, Green Robert C, Beggs Alan H
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1.
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.
基因组测序对一生影响最大的时机是在新生儿期。“婴儿测序项目”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护理中的医学、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的托儿所招募，其中一半被随机分配接受基因组测序，并收到一份报告，该报告包括单基因疾病变异、儿童期发病或可采取行动的疾病的隐性携带者变异以及药物基因组学变异。所有家庭都参加一个结果披露环节，其中包括向测序组的家庭返还结果。通过查阅病历以及对父母和医疗服务提供者进行调查来收集结果，包括选择报告基因和变异的理由；基因组数据对患病和健康婴儿的医疗管理有何补充；以及将基因组测序整合到健康和患病新生儿护理中的医学、行为和经济影响。
“婴儿测序项目”将提供有关新生儿基因组测序的风险、益处和成本的实证数据，并为与新生儿普遍基因组筛查相关的政策决策提供参考。
该研究已在ClinicalTrials.gov注册，标识符：NCT02422511。注册日期：2015年4月10日。
