A model to implement genomic medicine in the neonatal intensive care unit

被引：0
作者：
Monica H. Wojcik
Alissa M. D’Gama
Pankaj B. Agrawal
机构：
[1] Boston Children’s Hospital and Harvard Medical School,Division of Newborn Medicine, Department of Pediatrics
[2] Boston Children’s Hospital and Harvard Medical School,Division of Genetics and Genomics, Department of Pediatrics
[3] Boston Children’s Hospital,The Manton Center for Orphan Disease Research
[4] The Broad Institute,Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology
[5] Boston Children’s Hospital and Harvard Medical School,undefined
来源：
Journal of Perinatology | 2023年 / 43卷
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摘要：
Rapid genomic sequencing has been shown to have a high diagnostic yield for critically ill infants, with multiple research studies demonstrating both diagnostic and clinical utility. However, clinical implementation of rapid sequencing in the neonatal intensive care unit (NICU), as well as other aspects of genomic medicine such as precision therapy, may be challenging. We describe the Neonatal Genomics Program, developed at our institution as a multidisciplinary approach to improve clinical genetic diagnosis and outcomes for infants in our NICU through genomic medicine. The creation of a dedicated program implementing genomic medicine to improve care in the NICU allows not only for improved access to genomic sequencing for rapid diagnosis, but also advancement of rare disease research and precision therapeutics. Ongoing efforts will help to define an optimal approach to genomic medicine in the NICU context.
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页码：248 / 252
页数：4
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