Boston College, Connell School of Nursing, Chestnut Hill, Massachusetts (Dr Uveges); Division of Genetics and Genomics, Division of Endocrinology, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts (Dr Holm); and Harvard Medical School, Boston, Massachusetts (Dr Holm).
Adv Neonatal Care. 2021 Dec 1;21(6):473-481. doi: 10.1097/ANC.0000000000000834.
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.
To provide scientific evidence and guidance on the current genetic and genomic applications pertinent to neonatal care.
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.
Providing nurses with the most up-to-date evidence on genetic and genomic applications ensures their involvement and contributions to quality neonatal care.
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.
遗传和基因组健康应用正在迅速发展。为了指导当前的护理实践，需要对新生儿群体的这些应用进行清晰和更新的描述。
提供与新生儿护理相关的当前遗传和基因组应用的科学证据和指导。
使用“新生儿/新生儿”和“遗传学”、“基因组学”、“新生儿筛查”、“药物基因组学”、“伦理”和“法律”等搜索词，在 CINAHL 和 PubMed 上进行了搜索。还进行了 Google 搜索，以综合专业指南、立场声明和当前的遗传实践。
发现/结果：报告了新生儿遗传评估的组成部分，包括新生儿体格检查、家族史和与新生儿相关的实验室检查的详细信息。描述了新生儿筛查的历史和过程，以及全外显子组和基因组测序等进展对新生儿筛查的影响。描述了目前主要在新生儿研究背景下使用的基因组应用——药物基因组学，并陈述了其未来的影响。最后，详细说明了这些遗传和基因组应用的具体伦理和法律含义，以及为护士提供的遗传/基因组资源。
为护士提供最新的遗传和基因组应用证据，确保他们参与并为优质新生儿护理做出贡献。
需要进行遗传/基因组学研究，以了解遗传/基因组应用对新生儿群体的影响，以及这些新应用将如何改变新生儿护理。
