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临床医生对遗传咨询过程的知识,态度和实践
Jyoti P Kulkarni1, Sangeetha Arumugam1, Nandha Kumar Subbiah1
1Genetics Unit, Department of Anatomy, All India Institute of Medical Sciences, Mangalagiri, Mangalagiri, IND.
Cureus
|October 27, 2023
概括
临床医生认识到为患者和家人提供遗传咨询的重要性,强调家族史,遗传模式和遗传检测. 有效的遗传咨询对于减少遗传疾病的社会负担至关重要.
科学领域:
- 医学遗传学 医学遗传学
- 临床遗传学 临床遗传学
- 基因咨询 基因咨询
背景情况:
- 遗传学在医学中发挥着重要作用,需要临床医生适应临床遗传学的快速进展.
- 遗传性疾病影响患者,家庭和社区,强调需要明智决策和减少疾病负担.
- 了解临床医生的遗传咨询知识,态度和实践对于有效的患者护理至关重要.
研究的目的:
- 评估临床医生关于遗传咨询的知识,态度和做法.
- 评估医疗保健专业人员对遗传咨询组件的感知重要性.
- 确定在临床实践中实施综合遗传咨询的障碍和促进因素.
主要方法:
- 一个结构化,预先验证的问卷被分配给60名临床医生在各个部门.
- 答案采集使用利克尔特比例表,并使用描述性统计和百分比来分析.
主要成果:
- 大约90%的临床医生肯定了多代家族病史,遗传模式,复发风险和遗传检测的重要性.
- 关于向家庭提供基因测试教育和将阳性病例转介给支持小组,观察到积极的反应.
- 大多数参与者都同意,遗传咨询对于孩子的父母和面临遗传疾病风险的夫妇来说至关重要.
结论:
- 临床医生可能缺乏对遗传原因,可用的测试的认识,或者面临全面遗传咨询的时间限制.
- 延长,多次会议的遗传咨询对于有效减少遗传疾病的社会负担至关重要.
- 改善临床医生与遗传咨询实践的接触,可以改善患者和家庭的结果.
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