Michigan State University College of Nursing, East Lansing, MI 48824, USA.
J Nurs Scholarsh. 2013 Mar;45(1):79-88. doi: 10.1111/jnu.12006. Epub 2013 Jan 31.
PURPOSE: Neuropsychiatric disorders contribute substantially to disease burden and quality of life across the lifespan and the globe. The purpose of this article is to review the state of the science regarding genomic contributions to selected common neuropsychiatric conditions and to examine the consequent immediate and future implications for nursing practice and research. ORGANIZING CONSTRUCT: Our work is guided by an ecological model that recognizes that common diseases are complex or multifactorial, meaning that multiple genomic and environmental factors contribute to their etiology. METHODS: A review of the literature was conducted to determine the state of the science in relationship to the genomic contributions to selected neuropsychiatric disorders. FINDINGS: Neuropsychiatric conditions are genomically heterogeneous, both within a single disorder and across groups of disorders. While recent genomic research yields clinically validated and useful information for a small subset of persons (e.g., predictive genetic testing for Huntington disease and early-onset Alzheimer disease), broad clinical application of genetic information is not yet available. In addition, the implications of genomics for the development and targeting of nonpharmacologic treatment strategies is largely unexplored. CONCLUSIONS: Further research is needed to expand knowledge beyond genomic risk for the presence of disease to knowledge about the genomic risk for symptoms, symptom burden, and tailored symptom management interventions. CLINICAL RELEVANCE: Knowledge about the genomic influences on neuropsychiatric conditions suggests important implications for practicing nurses in the identification of persons at risk, provision of follow-up support, and in the administration of medications.
目的:精神神经疾病在全球范围内严重影响着各年龄段人群的疾病负担和生活质量。本文旨在综述与特定常见精神神经疾病相关的基因组贡献的研究现状,并探讨其对护理实践和研究的直接和未来影响。
组织构建:我们的研究工作以生态模型为指导,该模型认识到常见疾病是复杂的或多因素的,这意味着多种基因组和环境因素共同导致其发病。
方法:对文献进行综述,以确定与特定精神神经疾病的基因组贡献相关的科学现状。
结果:精神神经疾病在单一疾病和多种疾病群体中具有基因组异质性。虽然最近的基因组研究为一小部分人提供了具有临床验证和有用的信息(例如,亨廷顿病和早发性阿尔茨海默病的预测性基因检测),但遗传信息的广泛临床应用尚不可用。此外,基因组学对非药物治疗策略的开发和靶向的影响在很大程度上尚未得到探索。
结论:需要进一步研究,将关于疾病存在的基因组风险的知识扩展到关于症状、症状负担和个性化症状管理干预的基因组风险的知识。
临床相关性:关于精神神经疾病的基因组影响的知识表明,对于有风险的人群的识别、后续支持的提供以及药物的管理,对于执业护士具有重要的意义。
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