Hastings Cent Rep. 2018 Jul;48 Suppl 2:S45-S46. doi: 10.1002/hast.886.
A significant portion of newborns cared for in the neonatal intensive care unit or other ICUs, such as the cardiac ICU, have a medical condition with a genetic component, including congenital malformations, the leading cause of death in the NICU. In many cases, however, it is not clear which condition the child has or what can be done to help him or her. Genomic sequencing of sick newborns has the potential to bypass the prolonged journey to a diagnosis, improving the medical care of individual infants. Sequencing also has the potential to benefit others beyond the child whose genome is sequenced and his or her immediate family. Sequence data from sick newborns will expand medicine's understanding of genetic diseases, leading to improvements in clinicians' ability to counsel family and to provide even more targeted care. Not only will more frequent use of sequencing lead to discovery of new genes; it will also provide unique insights into the full spectrum of known Mendelian genetic diseases, so-called phenotypic expansion, when a gene previously recognized as associated with a phenotype is found to be associated with an expanded set of clinical features. Genetic and environmental changes that modify the expression of a genetic disease may also be elucidated.
相当一部分在新生儿重症监护病房或其他 ICU 中接受治疗的新生儿，如心脏 ICU 中的新生儿，存在具有遗传成分的医疗状况，包括先天性畸形，这是 NICU 中导致死亡的主要原因。然而，在许多情况下，尚不清楚孩子患有哪种疾病，或者可以采取什么措施来帮助他或她。对患病新生儿进行基因组测序有可能避免冗长的诊断过程，从而改善个体婴儿的医疗护理。测序还有可能使除了接受基因组测序的孩子及其直系亲属之外的其他人受益。来自患病新生儿的序列数据将扩大医学对遗传疾病的认识，从而提高临床医生为家庭提供咨询和提供更有针对性的护理的能力。测序的更频繁使用不仅将导致新基因的发现；它还将提供对已知孟德尔遗传疾病全貌的独特见解，即所谓的表型扩展，当先前被认为与表型相关的基因被发现与一组扩大的临床特征相关联时。还可以阐明改变遗传疾病表达的遗传和环境变化。
