Epilepsy Genetics Program, Division of Epilepsy and Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Neonatal Genomics Program, Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.
J Perinatol. 2023 Jul;43(7):963-967. doi: 10.1038/s41372-023-01630-7. Epub 2023 Feb 11.
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.
遗传疾病是导致新生儿重症监护病房收治婴儿发病率和死亡率的主要原因。这一人群非常有潜力从基因组医学中受益,因为早期的精准诊断对于早期的个性化管理至关重要。然而,迄今为止,基因组医学在新生儿学中的应用无疑加剧了健康不平等,因此迫切需要制定策略,在新生儿护理中实现公平获得基因组学的机会。在这篇观点文章中,我们展示了基因组测序在危重症婴儿中的应用,并强调了推进公平获取机会的三项关键建议:招募代表性不足的人群、教育非遗传学提供者以增强基因组医学的实践能力,以及开发创新基础设施,在不同环境中实施基因组医学。