遗传学和新生儿护理的当前趋势。

Melissa K Uveges, Ingrid A Holm
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引用次数: 0

摘要

背景:遗传学和基因组健康的应用正在迅速变化。需要对新生儿人群的这些应用进行清晰和更新的描述,以指导当前的护理实践。目的:为当前新生儿护理相关的遗传学和基因组学应用提供科学依据和指导。方法:使用检索词“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”对CINAHL和PubMed进行检索。还进行了谷歌搜索,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细节。描述了新生儿筛查的历史和过程,以及诸如全外显子组和基因组测序等进展对新生儿筛查的影响。药物基因组学是一种基因组应用,目前主要用于新生儿的研究背景下,描述和未来的影响说明。最后,详细介绍了这些遗传和基因组应用的具体伦理和法律含义,以及护士的遗传/基因组资源。对实践的影响:为护士提供最新的遗传和基因组应用的证据,确保他们的参与和贡献高质量的新生儿护理。对研究的影响:需要进行遗传/基因组研究,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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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