Division of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
School of Social and Political Science, Science, Technology and Innovation Studies, University of Edinburgh, Edinburgh, UK.
Health Expect. 2024 Apr;27(2):e14024. doi: 10.1111/hex.14024.
Motor neuron disease (MND) (also known as amyotrophic lateral sclerosis) is a life-limiting neurodegenerative condition. In up to 20% of people with MND, a pathogenic variant associated with autosomal dominant inheritance can be identified. Children of people carrying a pathogenic variant have a 50% chance of inheriting this and a higher, although harder to predict, chance of developing the disease compared to the general adult population. This paper explores the experience of living with the genetic risk of MND.
We undertook a UK-based interview study with 35 individuals, including: 7 people living with genetically-mediated forms of MND; 24 asymptomatic relatives, the majority of whom had an increased risk of developing the disease; and 4 unrelated partners.
We explore how individuals make sense of genetic risk, unpacking the interplay between genetic knowledge, personal perception, experiences of the disease in the family, age and life stage and the implications that living with risk has for different aspects of their lives. We balance an emphasis on the emotional and psychological impact described by participants, with a recognition that the salience of risk fluctuates over time. Furthermore, we highlight the diverse strategies and approaches people employ to live well in the face of uncertainty and the complex ways they engage with the possibility of developing symptoms in the future. Finally, we outline the need for open-ended, tailored support and information provision.
Drawing on wider literature on genetic risk, we foreground how knowledge of MND risk can disrupt individuals' taken-for-granted assumptions on life and perceptions of the future, but also its contextuality, whereby its relevance becomes more prominent at critical junctures. This research has been used in the development of a public-facing resource on the healthtalk.org website.
People with experience of living with genetic risk were involved throughout the design and conduct of the study and advised on aspects including the topic guide, sampling and recruitment and the developing analysis. Two patient and public involvement contributors joined a formal advisory panel.
运动神经元病（MND）（也称为肌萎缩侧索硬化症）是一种具有生命限制的神经退行性疾病。在高达 20%的 MND 患者中，可以发现与常染色体显性遗传相关的致病性变异。携带致病性变异的人的子女有 50%的机会遗传这种变异，并且与一般成年人群相比，他们患这种疾病的几率更高，尽管更难预测。本文探讨了患有 MND 遗传风险的生活经历。
我们在英国进行了一项基于访谈的研究，参与者包括：7 名患有遗传性 MND 的人；24 名无症状亲属，其中大多数有患病的高风险；以及 4 名无关的伴侣。
我们探讨了个体如何理解遗传风险，剖析了遗传知识、个人感知、家族中疾病的经历、年龄和生活阶段之间的相互作用，以及这种风险对他们生活不同方面的影响。我们平衡了参与者所描述的情感和心理影响的重点，同时认识到风险的显著性会随时间而波动。此外，我们强调了人们为了在不确定的情况下过上美好生活而采用的多样化策略和方法，以及他们应对未来出现症状的可能性的复杂方式。最后，我们概述了需要提供开放式、定制化的支持和信息。
借鉴更广泛的遗传风险文献，我们强调了 MND 风险知识如何破坏个体对生活和未来的既定假设，但也强调了其背景性，即其相关性在关键时刻更为突出。这项研究已被用于开发 healthtalk.org 网站上的面向公众的资源。
有遗传风险生活经验的人参与了研究的设计和进行，并就主题指南、抽样和招募以及正在进行的分析等方面提供了建议。两名患者和公众参与成员加入了一个正式的顾问小组。
