Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
Institute for Better Health, Trillium Health Partners, Mississauga, Ontario, Canada.
Clin Genet. 2022 Jan;101(1):3-19. doi: 10.1111/cge.14024. Epub 2021 Jul 13.
Person-centered care (PCC) is recognized as a key component of the delivery of quality healthcare and a model for healthcare systems worldwide. The experience of illness through a person's perspective is one domain defining PCC contributing to a growing interest in examining the lived experiences of illness. This scoping review sought to examine what is known from the existing literature about the lived experiences of persons gene-positive for or living with Huntington's disease (HD) as described in their own voices and to outline prominent psychosocial themes of those experiences. Five databases were systematically searched and analyzed resulting in 19 publications for inclusion. Using a thematic analysis, five prominent psychosocial themes were identified: grappling with control, avoidance as an escape from realities, adaptation to new realities, managing emotions, and appreciation for life. Variation in themes existed across HD life stage of being undiagnosed or diagnosed with HD. The findings of this review demonstrate that individuals who are gene-positive for or living with HD require support well beyond the disclosure of genetic testing and that it may be beneficial for healthcare providers to consider where along the life stage trajectory a person affected by HD may be to ensure the delivery of quality PCC.
以人为本的关怀（PCC）被认为是提供高质量医疗保健的关键组成部分，也是全球医疗保健系统的典范。从个人角度体验疾病是定义 PCC 的一个领域，这促使人们越来越关注疾病的真实体验。本范围综述旨在探讨现有文献中关于亨廷顿病（HD）基因阳性或患病个体自身描述的疾病体验的已知内容，并概述这些体验的主要心理社会主题。对五个数据库进行了系统搜索和分析，最终纳入了 19 篇出版物。使用主题分析，确定了五个主要的心理社会主题：努力控制、逃避现实、适应新现实、管理情绪和珍惜生命。在未被诊断或被诊断为 HD 的 HD 生命阶段，主题存在差异。本综述的结果表明，基因阳性或患有 HD 的个体需要的支持不仅仅是基因检测结果的披露，医疗保健提供者可能需要考虑受 HD 影响的个体在生命阶段轨迹中的位置，以确保提供高质量的 PCC。
