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在急性儿科环境中提供复杂的基因组查:家庭决策和结果

Melissa Martyn¹, Ling Lee², Alli Jan³

¹Murdoch Children's Research Institute, Parkville, VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC, Australia.

Genetics in medicine : official journal of the American College of Medical Genetics

|November 16, 2024

概括

在诊断后延迟基因组查可以改善家庭的理解和回忆. 大多数家庭发现决策更容易,并接受了延迟的报价,这表明这种方法应该被广泛试用.

科学领域:

基因组医学是基因组医学.
临床遗传学临床遗传学
生物伦理学生物伦理学

背景情况:

儿科急性护理中的基因组测序在高压力时期为家庭提供了复杂的决策.
目前的实践提供超快的基因组测序与诊断测试并发,可能压倒家庭.

研究的目的:

评估在诊断测试完成后提供基因组查的家庭的吸收,理解和服务提供偏好.
为了减少儿童急性护理机构的家庭和临床医生的决策复杂性.

主要方法:

一组235个家庭接受了超快速诊断基因组测序,随后提供了基因组查 (儿科发病,成人发病,夫妇携带者).
通过在三个时间点进行调查和遗传咨询成绩单的诱导性内容分析来收集数据.
评估了对结果的吸收,决策方便,理解和回忆.

主要成果:

119个家庭 (51%) 接受了遗传咨询,115个家庭 (49%) 接受了基因组查.
对夫妻携带者查的决定被认为比儿科或成人开始查更容易.
一个月后,这些家庭能够准确地回忆出新发现的病原体变异,78%的人认为延迟的报价是可以接受的.

结论:

将基因组查与急性诊断期分开是可行的,并得到了家庭的支持.
家庭表现出良好的知识和回忆,当基因组查被提供后诊断.
延迟的基因组查应该在临床实践中更广泛地进行试验.

关键词:

急性护理是一项急性护理.其他发现其他发现基因组卫生服务研究研究机会主义的基因组查.二次发现二次发现

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