遗传学第一方法:扩大由非遗传学家医生进行遗传测试的实用性
Rotem Greenberg1, Noa Shefer Averbuch2, Lena Sagi-Dain3
1Clalit Research Institute, Innovation Division, Clalit Health Services, Ramat Gan, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
概括
非遗传学家医生可以有效地启动遗传测试,增加访问和转诊. 与遗传学家相比,这个程序在诊断产量上没有差异,改善了患者的护理.
科学领域:
- 医学遗传学 医学遗传学
- 内分泌学 在内分泌学.
背景情况:
- 全球对遗传测试的需求,由于遗传学家的短缺,造成了医疗保健系统的压力.
- 需要创新策略来提高基因测试的可访问性,减少等待时间,并提高患者护理.
研究的目的:
- 评估授权非遗传学家医生 (NGP) 在遗传咨询和测试中的可行性和影响.
- 评估NGP是否可以改善对遗传测试和患者结果的访问.
主要方法:
- 实施了4个步骤的"遗传学第一"计划,以培训和支持非政府组织.
- 选择了内分泌学作为最初的领域,专注于单一的糖尿病.
- 将NGP和临床遗传学家发起的测试之间的测试结果和诊断产量进行比较.
主要成果:
- 114名内分泌医生完成了培训计划.
- 在260个单基因糖尿病基因组测试中,NGP发起了68%的基因组测试,将转诊率增加了107%.
- 实现了30%的诊断收益率,NGP和临床遗传学家发起的测试之间没有显著差异.
结论:
- 让NGP参与基因测试是可行的,并且具有影响力.
- 这种方法提供了一个范式的转变,以扩大基因测试的访问和改善患者的结果.
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