日本儿童神经病学家关于发育迟缓/智力残疾患者基因测试的决定:全国调查
Tetsuya Okazaki1, Chisako Aoki2, Kaori Adachi3
1Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan; Department of Clinical Genetics and Genomic Medicine, Okayama University Hospital, Okayama, Japan.
日本的儿童神经病学家对发育迟缓/智力障碍 (DD/ID) 的基因检测有不同的方法. 专业培训影响决策,强调需要改进教育和标准化基因诊断政策.
科学领域:
- 医学遗传学 医学遗传学
- 儿科神经学 儿科神经学
背景情况:
- 基因分析技术的进步使得更多的发育迟缓/智力障碍 (DD/ID) 诊断成为可能.
- 医生的决定和区域可访问性影响DD/ID的基因测试利用.
研究的目的:
- 评估日本儿童神经病学家对DD/ID遗传检测的态度.
- 确定在DD/ID病例中影响遗传测试决策的因素.
主要方法:
- 在2023年2月至3月期间,在日本认证的儿科神经病学家中进行了在线调查.
- 该调查包括266名参与者,包括41名经过认证的临床遗传学家.
主要成果:
- 在日本,G-banding是最常见的DD/ID一线遗传测试.
- 30%的儿科神经病学家不会测试DD / ID没有异常,而临床遗传学家的比例为15%.
- 临床遗传学家报告染色体微阵列分析 (CMA) 的经验高于儿科神经学家 (75.6%对39.2%).
结论:
- 专业的遗传培训极大地影响了对DD/ID进行遗传检测的决定.
- 提高教育和获得遗传学专家的机会可以在日本标准化DD/ID遗传诊断.
- 标准化基因测试政策对于更广泛的DD/ID测试可用性至关重要,特别是对于非遗传学专家.
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