目标:我们评估了决定,用于诊断基因组测试的在线预测试决策支持工具,在没有遗传咨询师(GC)的非遗传学专业诊所。
方法:提供基因组测试的儿童家庭有资格参与。56名父母/监护人在家完成决定,在他们方便的时候。DECIDE包括一个集成的知识测验和决策冲突屏幕。六个月后,向父母提供了关于他们经历的随访问卷和访谈。
结果:40位父母(71%)拥有足够的知识,并且没有围绕其测试决定的决策冲突,但该组中有6位存在剩余问题。这六个,加上16个决策冲突或知识不足,看到了一个遗传咨询师.在后续行动中,在任何父母中,几乎没有决定性的遗憾和负面情绪。大多数人选择测试并描述他们的决定很容易,然而压力很大,并描述了测序的许多动机。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。
结论:DECIDE提供了足够的决策支持,使大多数父母能够对孩子的基因检测做出价值一致的选择。父母报告说,DECIDE有助于澄清进行(或拒绝)测试的动机。决定是及时的,经过良好的测试,和在没有GC的临床环境中可访问的工具。
OBJECTIVE: We evaluated DECIDE, an online pretest decision-support tool for diagnostic genomic testing, in nongenetics specialty clinics where there are no genetic counselors (GCs).
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.