医生是否知道何时推患者进行基因检测?
R John Presutti1, George G A Pujalte1, Amelita Woodruff1
1Department of Family Medicine, Mayo Clinic, Jacksonville, Florida, USA.
Journal of genetic counseling
|September 9, 2023
概括
大多数初级保健医生 (PCP) 不承认所有推的家族史问题作为基因测试转诊指标. 许多PCP还缺乏足够的遗传学培训和接触遗传学专家,这影响了患者的护理.
科学领域:
- 遗传学 遗传学 是一个
- 初级医疗保健医学 一级医疗保健医学
- 医学教育 医学教育
背景情况:
- 初级保健医生 (PCP) 经常遇到患者的遗传问题,但往往缺乏专门的专业知识.
- 目前的指导方针建议在基因测试转诊时使用与癌症相关的家族病史问卷,然后进行遗传咨询.
研究的目的:
- 评估PCP在多大程度上利用美国癌症协会的家族史问题作为基因测试转诊的触发因素.
- 确定影响PCP转诊决定进行基因检测的因素.
主要方法:
- 一项涉及88个PCP在全国会议上的横截面研究.
- 针对PCP,美国癌症协会提出了七个家族史问题,以评估他们对转诊的感知意义.
主要成果:
- 大多数PCP (76-83%) 在七个问题中,只有两个问题被认为是转案触发因素.
- 较低的百分比 (22-55%) 识别了剩余的五个问题.
- 很少有PCP报告有足够的遗传学培训 (3.4%),只有44.3%的人可以随时找到遗传学专家.
结论:
- 基因检测专家对基因检测转诊的标准化家族史问题表现出有限的认可.
- 不足够的遗传学培训和对专家的有限访问阻碍了适当的转诊.
- 改善PCP对遗传检测和转诊途径的教育对于优化患者获得遗传服务至关重要.
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