Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units

被引：3

作者：

D'Gama, Alissa M. ^{[1
,2
,3
,4
]}

Agrawal, Pankaj B. ^{[2
,3
,4
,5
,6
]}

机构：

[1] Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Div Epilepsy & Neurophysiol, Boston, MA USA

[2] Boston Childrens Hosp, Neonatal Genom Program, Div Newborn Med, Boston, MA 02115 USA

[3] Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA

[4] Harvard Med Sch, Dept Pediat, Boston, MA 02115 USA

[5] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA

[6] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

来源：

JOURNAL OF PERINATOLOGY | 2023年 / 43卷 / 07期

关键词：

BARRIERS; DIVERSE;

D O I：

10.1038/s41372-023-01630-7

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Genetic disorders are a leading cause of morbidity and mortality in infants admitted to neonatal intensive care units. This population has immense potential to benefit from genomic medicine, as early precision diagnosis is critical to early personalized management. However, the implementation of genomic medicine in neonatology thus far has arguably worsened health inequities, and strategies are urgently needed to achieve equitable access to genomics in neonatal care. In this perspective, we demonstrate the utility of genomic sequencing in critically ill infants and highlight three key recommendations to advance equitable access: recruitment of underrepresented populations, education of non-genetics providers to empower practice of genomic medicine, and development of innovative infrastructure to implement genomic medicine across diverse settings.

引用

页码：963 / 967

页数：5

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