Oas Hannah, Cook Lola, Schwantes-An Tae-Hwi, Walsh Laurence E, Wills Anne-Marie, Mata Ignacio F, Nance Martha A, Beck James C, Naito Anna, Marder Karen, Alcalay Roy N, Verbrugge Jennifer
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Neurology and Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
NPJ Parkinsons Dis. 2024 Oct 25;10(1):202. doi: 10.1038/s41531-024-00805-z.
Genetic testing for Parkinson's disease (PD) is infrequently performed due to perceptions of low utility. We investigated the personal utility in PD GENEration and how results lead to enrollment in additional research studies. Participants (n = 972) underwent genetic testing, results disclosure, genetic counseling, and completed a survey examining the perceived personal utility of their results and interest in participating in additional studies. Most participants found their genetic test results useful, including satisfying curiosity (81%), feeling good about helping the medical community (80%), and having information to share with family (77%). There were no significant differences in responses based on result type. Forty-five percent of participants expressed interest in participating in research studies; whereas 16% of participants confirmed enrollment. Our results suggest that participants find personal utility in genetic testing regardless of results. Although participants may be interested in enrolling in additional research, they may need support and resources.
由于认为实用性较低，帕金森病（PD）的基因检测很少进行。我们调查了帕金森病基因检测项目中的个人效用，以及检测结果如何促使参与者加入其他研究。参与者（n = 972）接受了基因检测、结果告知、遗传咨询，并完成了一项调查，该调查考察了他们对检测结果个人效用的认知以及参与其他研究的兴趣。大多数参与者认为他们的基因检测结果有用，包括满足好奇心（81%）、因有助于医学界而感觉良好（80%）以及有信息可与家人分享（77%）。根据结果类型，回答没有显著差异。45%的参与者表示有兴趣参与研究；而16%的参与者确认已登记参加。我们的结果表明，无论检测结果如何，参与者都能从基因检测中找到个人效用。尽管参与者可能有兴趣参加其他研究，但他们可能需要支持和资源。
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