PDF(Pubmed)
Abstract：
A Variant of Uncertain Significance (VUS) is a difference in the DNA sequence with uncertain consequences for gene function. A VUS in a hereditary cancer gene should not change medical care, yet some patients undergo medical procedures based on their VUS result, highlighting the unmet educational needs among patients and healthcare providers. To address this need, we developed, evaluated, and refined novel educational materials to explain that while VUS results do not change medical care, it remains important to share any personal or family history of cancer with family members given that their personal and family medical history can guide their cancer risk management. We began by reviewing the prior literature and transcripts from interviews with six individuals with a VUS result to identify content and design considerations to incorporate into educational materials. We then gathered feedback to improve materials via a focus group of multidisciplinary experts and multiple rounds of semi-structured interviews with individuals with a VUS result. Themes for how to improve content, visuals, and usefulness were used to refine the materials. In the final round of interviews with an additional 10 individuals with a VUS result, materials were described as relatable, useful, factual, and easy to navigate, and also increased their understanding of cancer gene VUS results.
摘要：
不确定显著性变体(VUS)是对基因功能具有不确定后果的DNA序列的差异。遗传性癌基因中的VUS不应该改变医疗护理，然而，一些患者根据他们的VUS结果接受医疗程序，强调患者和医疗保健提供者未满足的教育需求。为了满足这一需求，我们开发了,评估，并改进了新颖的教育材料，以解释虽然VUS结果不会改变医疗保健，与家庭成员分享任何个人或家族癌症病史仍然很重要,因为他们的个人和家族病史可以指导他们的癌症风险管理.我们首先回顾了对六个人的访谈中的先前文献和成绩单，并获得了VUS结果，以确定要纳入教育材料的内容和设计考虑因素。然后，我们通过多学科专家的焦点小组以及对具有VUS结果的个人进行多轮半结构化访谈来收集反馈以改进材料。如何改进内容的主题，视觉效果,和有用性被用来提炼材料。在最后一轮对另外10名具有VUS结果的个人的采访中，材料被描述为相关的，有用的,事实,易于导航，也增加了他们对癌基因VUS结果的了解。
