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相关概念视频

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Preventive Healthcare Services01:30

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Preventive healthcare services keep people healthy via frequent check-ups, screening, and counseling. They primarily aid in disease prevention rather than treating an acute or chronic illness. Preventive treatment also keeps individuals productive and energetic, allowing them to work well into their retirement years. Examples of preventive care services include:
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Primary care promotes wellness and prevents disease. This care includes health promotion, education, protection (such as immunizations), early disease screening, and environmental considerations. Settings providing this type of healthcare include physician offices, public health clinics, school nursing, and community health nursing.
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初级保健提供者对儿童扩展基因组查的观点

Elizabeth Kathleen Branch1, Megan C Roberts2, Margaret Waltz1

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初级保健提供者看到基于年龄的基因组查 (ABGS) 的价值,但需要支持实施. 解决患者的成本和资源的可用性是整合这一儿科基因组测序方法的关键.

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科学领域:

  • 基因组医学是基因组医学.
  • 儿科初级护理 儿科初级护理
  • 实施科学 实施科学

背景情况:

  • 将儿科基因组查扩展到新生儿查之外,对初级保健提供者提出了实施挑战.
  • 一个新的基于年龄的基因组查 (ABGS) 范式旨在将针对可采取行动的疾病的定向基因组测序集成到常规儿童护理中.
  • 了解提供者的观点对于成功实施ABGS至关重要.

研究的目的:

  • 确定实施基于年龄的基因组查 (ABGS) 在儿科初级保健中的决定因素和策略.
  • 评估初级保健提供者对基因组查实用性,好处,障碍和促进者的看法.
  • 为设计试点ABGS计划和未来基因组实施研究提供信息.

主要方法:

  • 在北卡罗来纳州,一项电子调查分发给家庭医学和儿科初级保健临床医生.
  • 调查项目评估了针对性基因组查的感知实用性,益处,障碍和促进者.
  • 用描述性统计和内容分析分析数据.

主要成果:

  • 在93名受访者中,超过85%的人认为基因组查很重要,但30%的人缺乏实施信心.
  • 准备,证据,实力和质量被列为计划的关键好处.
  • 患者成本 (87%的担忧) 和可用资源 (75%的担忧) 是最重要的障碍.

结论:

  • 调查结果强调,需要制定具体计划,以解决供应商的时间和资源问题,以便在ABGS中共享决策.
  • 试点计划的设计必须包含克服已识别的障碍的战略.
  • 未来的研究应该集中在儿科初级保健中基因组查的实际实施策略上.