在基因组测序结果出炉后,专家对儿童获得社区基础治疗和教育服务的观点
Simon M Outram1, Julia E H Brown2, Matthew Norstad2
1Division of Prevention Science, University of California San Francisco, San Francisco, CA.
概括
社区专家发现,儿科基因组测序结果很少直接影响服务资格. 然而,遗传发现可以支持对患有罕见疾病的儿童的诊断和未来护理计划.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 医疗保健服务研究 医疗保健服务研究
背景情况:
- 儿科基因组测序越来越多地用于罕见疾病.
- 根据这些结果,家庭寻求治疗和教育支持服务.
- 基于社区的专家在服务提供中发挥着至关重要的作用.
研究的目的:
- 评估基于社区的专家对寻求儿童基因组测序后服务的家庭的反应.
- 了解基因组数据在获取罕见儿科疾病支持方面的当前实用性.
主要方法:
- 与15个社区服务提供商进行了定性访谈.
- 参与者与具有智力和发育差异的儿童一起工作.
- 作为更大的外体序列测序实用性检查的一部分进行的研究.
主要成果:
- 服务推和评估系统是复杂的.
- 遗传诊断是次要的行为观察服务资格.
- 社会资本显著影响服务采购.
- 当前的遗传结果往往对服务资格没有直接影响.
结论:
- 基因组结果目前对罕见儿科疾病的服务提供有有限的直接影响.
- 积极的基因组测试可以证实行为诊断,并告知未来的需求.
- 需要将遗传知识与现有的评估方法整合起来.
- 为了在复杂的服务系统中导航,需要加强家庭支持.
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