Genomic medicine in neonatal care: progress and challenges

Abstract

During the neonatal period, many genetic disorders present and contribute to neonatal morbidity and mortality. Genomic medicine-the use of genomic information in clinical care- has the potential to significantly reduce morbidity and mortality in the neonatal period and improve outcomes for this population. Diagnostic genomic testing for symptomatic newborns, especially rapid testing, has been shown to be feasible and have diagnostic and clinical utility, particularly in the short-term. Ongoing studies are assessing the feasibility and utility, including personal utility, of implementation in diverse populations. Genomic screening for asymptomatic newborns has also been studied, and the acceptability and feasibility of such an approach remains an active area of investigation. Emerging precision therapies, with examples even at the "n-of-1" level, highlight the promise of precision diagnostics to lead to early intervention and improve outcomes. To sustainably implement genomic medicine in neonatal care in an ethical, effective, and equitable manner, we need to ensure access to genetics and genomics knowledge, access to genomic tests, which is currently limited by payors, feasible processes for ordering these tests, and access to follow up in the clinical and research realms. Future studies will provide further insight into enablers and barriers to optimize implementation strategies.

Fig. 1. Opportunities for Genetic Testing during the Fetal-Neonatal Continuum.

Diagnostic genetic testing, including genomic sequencing, can occur prenatally for a fetus suspected to have a genetic disorder, or at delivery or postnatally for a newborn suspected to have a genetic disorder. For an asymptomatic newborn, newborn screening soon after birth can detect a group of intervenable early-onset conditions and genomic newborn screening has the potential to detect many more conditions. Created with Biorender.com.

Fig. 2. Considerations for implementation of genomic medicine in neonatal care.

This figure summarizes considerations discussed in the text for implementation of genomic medicine in neonatal care in three main parts of the genomic medicine process: 1) selection of newborns for genetic testing, 2) ordering genetic testing, and 3) returning results of genetic testing and follow up. Created with Biorender.com.