提供者报告的经验,障碍和对遗传检测的观点,作为自闭症诊断的一部分
Amy Wang1, India D Little1, Dennis Carter2
1National Human Genome Research Institute, Social and Behavioral Research Branch, Bethesda, Maryland, United States of America.
PloS one
|February 5, 2024
概括
建议对自闭症进行基因检测,但未得到充分利用. 医疗保健提供者面临成本和缺乏培训等障碍,导致临床使用率降低,研究转介率增加.
科学领域:
- 神经发育障碍 神经发育障碍
- 遗传学 遗传学 是一个
- 临床心理学 临床心理学
背景情况:
- 专业组织建议用于自闭症诊断的基因检测.
- 在自闭症社区内,关于基因测试的好处存在分歧.
- 在推的基因测试指南和实际的临床实践之间仍然存在很大的差距.
研究的目的:
- 调查医疗保健提供者在自闭症诊断过程中对遗传测试的观点.
- 确定导致自闭症临床遗传检测率低的因素.
- 了解临床医生在自闭症遗传测试方面的经验和培训需求.
主要方法:
- 质量研究涉及采访14名医疗保健提供者 (主要是心理学博士).
- 使用五步框架分析分析数据.
- 探索自闭症诊断过程和遗传检测实践.
主要成果:
- 提供者对自闭症遗传检测的看法通常是积极的或混合的.
- 遗传测试往往没有显著改变提供者的临床实践.
- 测试的障碍包括成本,家庭压倒,竞争需求和道德问题.
- 观察到一种倾向,即将患者转移到研究,而不是临床遗传测试.
- 提供者表示需要更多的遗传学培训,并确定了特定的不确定性领域.
结论:
- 需要加强临床医生对自闭症遗传检测的用途和局限性的教育.
- 解决提供者培训差距对于弥合推和临床实施之间的差距至关重要.
- 临床医生未来的遗传学教育应该集中在确定不确定性和实际应用的领域.
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