The Role of Genome Sequencing in Neonatal Intensive Care Units.
The Role of Genome Sequencing in Neonatal Intensive Care Units.
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DOI：
10.1146/annurev-genom-120921-103442
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发表时间：
2022-08-31
影响因子：
8.7
通讯作者：
中科院分区：
文献类型：
--
作者：
遗传疾病在胎儿-新生儿适应过程中测试婴儿基因组的功能，是美国新生儿和婴儿死亡的主要原因。由于疾病的严重性、基因位点和等位基因异质性以及重叠/多样化的临床表型，新生儿重症监护病房的诊断基因组测序需要开发方法来缩短周转时间并改进基因组解释。 2012 年至 2021 年间，33 项临床研究记录了通过经济有效地识别致病基因组变异来进行一级快速或超快速全基因组测序的诊断和临床效用，这些变异改变了医疗管理，提出了新的治疗策略，并改善了预后。基因组诊断还可以预测父母和幸存先证者的生殖复发风险。利用实施科学和质量改进，基因组学习医疗保健系统的部署将通过将基因组测序整合到新生儿重症监护的最佳实践中，有助于降低新生儿和婴儿死亡率。
Genetic diseases test the functionality of an infant’s genome during fetal-neonatal adaptation and represent a leading cause of neonatal and infant mortality in the US. Due to disease acuity, gene locus and allelic heterogeneity, and overlapping/diverse clinical phenotypes, diagnostic genome sequencing in neonatal intensive care units has required development of methods to shorten turnaround time and to improve genomic interpretation. Between 2012 and 2021, 33 clinical studies have documented diagnostic and clinical utility of first-tier, rapid or ultra-rapid whole genome sequencing through cost-effective identification of pathogenic genomic variants which change medical management, suggest new therapeutic strategies, and refine prognosis. Genomic diagnosis also permits prediction of reproductive recurrence risk for parents and surviving probands. Using implementation science and quality improvement, deployment of a Genomic Learning Healthcare System will contribute to reduction of neonatal and infant mortality through integration of genome sequencing into best practice neonatal intensive care.
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DOI：
10.1016/j.jpeds.2020.06.020
发表时间：
2020-11
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Freed AS;Clowes Candadai SV;Sikes MC;Thies J;Byers HM;Dines JN;Ndugga-Kabuye MK;Smith MB;Fogus K;Mefford HC;Lam C;Adam MP;Sun A;McGuire JK;DiGeronimo R;Dipple KM;Deutsch GH;Billimoria ZC;Bennett JT
通讯作者：
Bennett JT
影响因子：
5.1
作者：
Franck, Linda S.;Kriz, Rebecca M.;Dimmock, David
通讯作者：
Dimmock, David
影响因子：
17.1
作者：
Kingsmore SF;Saunders CJ
通讯作者：
Saunders CJ
影响因子：
3.5
作者：
Bayat A;Bayat M;Rubboli G;Møller RS
通讯作者：
Møller RS
DOI：
10.1038/s41431-021-00954-2
发表时间：
2021-12
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Fridriksdottir R;Jonsson AJ;Jensson BO;Sverrisson KO;Arnadottir GA;Skarphedinsdottir SJ;Katrinardottir H;Snaebjornsdottir S;Jonsson H;Eiriksson O;Oskarsson GR;Oddsson A;Jonasdottir A;Jonasdottir A;Sigurdsson GH;Indridason EP;Sigurdsson SB;Bjornsdottir G;Saemundsdottir J;Magnusson OT;Bjornsson HT;Thorsteinsdottir U;Sigurdsson TS;Sulem P;Sigurdsson MI;Stefansson K
通讯作者：
Stefansson K