医生对中国罕见病遗传检测的使用和看法:全国性的横截面研究
Weida Liu1, Peng Liu1, Dan Guo2
1Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Orphanet journal of rare diseases
|August 10, 2023
概括
76%的医生用于罕见疾病的基因检测,具有显著的区域和专业差异. 高成本仍然是临床实践中广泛采用的重大挑战.
科学领域:
- 医学遗传学 医学遗传学
- 罕见疾病的诊断 罕见疾病的诊断
- 临床实践 临床实践
背景情况:
- 遗传检测对于诊断和管理罕见疾病至关重要.
- 关于遗传检测在罕见疾病管理中的当前利用和挑战的数据有限.
- 这项研究通过检查中国临床医生中基因测试的采用来解决这一差距.
研究的目的:
- 确定基因测试在罕见疾病的诊断和治疗中的利用率.
- 确定临床医生使用的特定遗传检测方法.
- 了解医生在用于罕见疾病的基因检测时面临的挑战.
主要方法:
- 在中国治疗罕见疾病的医生中进行了一项横截面电子问卷调查.
- 该调查收集了有关使用基因测试,使用的方法和遇到问题的数据.
- 数据是从2022年6月到10月收集的,涵盖了中国的所有地区.
主要成果:
- 76.0%的医生利用遗传检测发现罕见疾病,中国东部 (79.2%) 的比例高于中部 (75.9%) 和西部 (71.9%) 的比例.
- 儿科医生使用率最高 (94.1%),外科医生使用率最低 (58.3%).
- 全外因子测序是最常用的方法;高成本是医生遇到的主要挑战.
结论:
- 遗传检测在罕见疾病实践中被广泛采用,但存在区域差异.
- 了解利用模式可以为资源分配提供信息,并改善罕见疾病流行病学.
- 解决成本等挑战对于在罕见疾病护理中更广泛地实施基因测试至关重要.
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