Current Trends in Genetics and Neonatal Care

Background: Genetic and genomic health applications are rapidly changing. A clear and updated description of these applications for the neonatal population is needed to guide current nursing practice. Purpose: To provide scientific evidence and guidance on the current genetic and genomic applications pertinent to neonatal care. Methods: A search of CINAHL and PubMed was conducted using the search terms “newborn/neonatal” and “genetics,” “genomics,” “newborn screening,” “pharmacogenomics,” “ethical,” and “legal.” Google searches were also conducted to synthesize professional guidelines, position statements, and current genetic practices. Findings/Results: Components of the newborn genetic assessment, including details on the newborn physical examination, family history, and laboratory tests pertinent to the newborn, are reported. The history and process of newborn screening are described, in addition to the impact of advancements, such as whole exome and genome sequencing, on newborn screening. Pharmacogenomics, a genomic application that is currently utilized primarily in the research context for neonates, is described and future implications stated. Finally, the specific ethical and legal implications for these genetic and genomic applications are detailed, along with genetic/genomic resources for nurses. Implications for Practice: Providing nurses with the most up-to-date evidence on genetic and genomic applications ensures their involvement and contributions to quality neonatal care. Implications for Research: Ongoing genetic/genomic research is needed to understand the implications of genetic/genomic applications on the neonatal population and how these new applications will change neonatal care.