数字平台对基因咨询在查环境中的影响
Chloe Mighton1,2, Alli Jan3, Ling Lee3
1Genomics Health Services Research Program, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
European journal of human genetics : EJHG
|February 13, 2026
概括
遗传学顾问 (GA) 数字工具有效地支持家长在儿科急性护理中进行机会性基因组查的决定. GA使用改进的知识和决策,帮助基因组查计划的可扩展性.
科学领域:
- 基因组医学是基因组医学.
- 数字健康数字健康
- 儿科急性护理 儿科急性护理
背景情况:
- 可扩展的基因组查需要有效的测试前教育和决策支持.
- 在儿科急性护理中,机会性基因组查对父母的决策提出了独特的挑战.
研究的目的:
- 评估遗传学顾问 (GA) 数字平台在支持机会性基因组查的家长决策方面的实用性.
- 评估GA对遗传咨询会议和家长理解的影响.
主要方法:
- 为接受基因组测试的儿童的父母提供了一个数字平台 (遗传学顾问).
- 基因咨询会议被分析质量,调查评估知识和决策.
- 研究了与GA的接触及其对辅导互动和知识保留的影响.
主要成果:
- 52%的家庭参与了GA;81%的参加遗传咨询的人使用了GA.
- 在普遍采用时,GA使用与咨询期间的担忧和问题较少相关.
- 在所有调查点上,GA用户表现出更高的知识保留率.
- 83%的受访者认为,在没有进一步的遗传咨询的情况下,GA为决策提供了足够的信息.
结论:
- 遗传学顾问数字平台有效地支持父母对机会性基因组查的决策.
- GA增强了家长的知识和信心,有助于基因组查计划的可扩展性.
- 像GA这样的数字工具可以简化儿科急症护理机构的基因组查过程.
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