实施遗传检测和咨询指南的障碍
Sophie Melly1, Amanda L Bergner1,2,3, Tristan Sands3
1Program in Genetic Counseling, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.
神经学家还没有完全执行无法解释的基因检测指南. 障碍包括保险,协调和有限的遗传咨询服务,
科学领域:
- 神经学
- 遗传学
- 临床实践指南
背景情况:
- 国家遗传咨询协会 (NSGC) 发布了2022年指导方针,建议所有无法解释的病例进行遗传检测和咨询.
- 该指南优先考虑外基因组/基因组测序 (ES/GS) 或多基因组 (MGP) 作为第一级测试.
研究的目的:
- 评估神经科医生是否遵守2022年NSGC针对不明原因的指导方针.
- 识别在治疗中阻碍基因检测和咨询的障碍
主要方法:
- 一项调查分发给在美国治疗的神经科医生.
- 收集了关于指导方针的认识,目前的基因测试实践和实施障碍的数据.
主要成果:
- 只有44%的神经科医生为大多数/所有无法解释的患者提供遗传检测;只有在怀疑遗传原因时,有46%的患者进行检测.
- 成年神经科医生报告了与儿童神经科医生相比更高的障碍,包括保险覆盖,测试协调和遗传咨询人员的访问.
- 虽然56%的人知道NSGC的指导方针,但大多数人认为它没有得到广泛宣传.
结论:
- 改善保险覆盖和获得遗传咨询服务对于更广泛地采用遗传检测和治疗不明原因而言至关重要.
- 需要有针对性的策略来支持成年神经科医生实施这些指南.
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