Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital Research Institute, Vancouver, BC, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Genet Med. 2024 Sep;26(9):101173. doi: 10.1016/j.gim.2024.101173. Epub 2024 May 31.
We evaluated DECIDE, an online pretest decision-support tool for diagnostic genomic testing, in nongenetics specialty clinics where there are no genetic counselors (GCs).
Families of children offered genomic testing were eligible to participate. Fifty-six parents/guardians completed DECIDE at home, at their convenience. DECIDE includes an integrated knowledge quiz and decisional conflict screen. Six months later, parents were offered follow-up questionnaires and interviews about their experiences.
Forty parents (71%) had sufficient knowledge and no decisional conflict surrounding their testing decision, but 6 of this group had residual questions. These 6, plus 16 with decisional conflict or insufficient knowledge, saw a GC. At follow-up, little-to-no decisional regret and few negative emotions were identified in any parents. Most chose testing and described their decision as easy, yet stressful, and described many motivations for sequencing. Parents appreciated the simple comprehensive information DECIDE provided and the ability to view it in a low-stress environment.
DECIDE provides adequate decision-support to enable most parents to make value-consistent choices about genetic testing for their child. Parents reported that DECIDE helped to clarify motivations for pursuing (or declining) testing. DECIDE is a timely, well-tested, and accessible tool in clinical settings without GCs.
我们评估了 DECIDE，这是一种用于诊断性基因组检测的在线预测试决策支持工具，适用于没有遗传咨询师（GC）的非遗传专业诊所。
接受基因组检测的儿童的家属有资格参与。56 名父母/监护人在家中自行完成 DECIDE，时间方便。DECIDE 包括一个集成的知识测验和决策冲突屏幕。六个月后，为父母提供有关他们体验的后续问卷调查和访谈。
40 名父母（71%）对他们的检测决策有足够的知识，且没有决策冲突，但这组中有 6 人仍有疑问。这 6 人加上有决策冲突或知识不足的 16 人，咨询了 GC。在随访中，几乎没有父母感到决策后悔或出现负面情绪。大多数人选择了检测，并表示他们的决定容易，但压力大，并描述了进行测序的多种动机。父母赞赏 DECIDE 提供的简单全面的信息，以及在低压力环境中查看信息的能力。
DECIDE 提供了足够的决策支持，使大多数父母能够对其孩子的基因检测做出符合价值观的选择。父母报告说，DECIDE 有助于澄清进行（或拒绝）检测的动机。DECIDE 是一种及时、经过充分测试且易于在没有 GC 的临床环境中使用的工具。
