性发育差异的基因组测试:临床医生的实践和看法
Gabby Atlas1,2,3, Chloe Hanna1,2,3, Tiong Yang Tan1,2,3,4
1Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Clinical endocrinology
|August 19, 2024
概括
临床医生广泛认识到基因诊断对性别发育差异 (DSD) 的好处. 然而,障碍阻碍了基因组测试在临床实践中的实施,尽管它被认为是有用的.
科学领域:
- 医学遗传学 医学遗传学
- 内分泌学 在内分泌学.
- 儿科 儿科 儿科
背景情况:
- 性发育差异 (DSD) 涵盖了一系列影响性发育的疾病.
- 基因组测试在诊断和管理DSD方面发挥着至关重要的作用.
- 了解目前的临床方法对基因组测试在DSD是必不可少的.
研究的目的:
- 调查临床医生在DSD诊断和管理中对基因组测试的方法.
- 在当前的DSD基因组测试实践中识别感知到的优点,差距和障碍.
- 评估基因组测试在DSD护理中的实用性和实施.
主要方法:
- 在澳大利亚和新西兰,向管理DSD的临床医生分发了一份匿名在线调查.
- 调查问题涉及人口统计,对基因组测试的看法以及遗传学服务的可用性.
- 收集了临床医生关于基因组测试在DSD中的作用和实用性的意见.
主要成果:
- 97%的临床医生认为,在DSD中,基因诊断具有显著的益处.
- 48%的受访者报告了实施基因组测试的障碍.
- 基因组测试被认为是未充分利用的,在临床场景中采用不同的方法.
结论:
- 对DSD进行基因组测试的感知益处和临床实施之间存在差异.
- 确定了将基因组测试整合到标准DSD临床护理中的障碍.
- 尽管认为有好处,但在DSD中基因组测试在广泛临床采用方面面临挑战.
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