Rensink Max J, Schermer M H N, Tibben A, Bijlsma E K, de Bot S T, Kievit J A, Bolt L L E
Medical Ethics, Philosophy and History of Medicine, Erasmus University Medical Centre, Dr. Molewaterplein 40, Rotterdam, 3015 GD, The Netherlands.
Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands.
Hum Genet. 2025 May 26. doi: 10.1007/s00439-025-02750-0.
Currently, new research projects aim to develop prognostic models that more accurately predict the age of onset and progression of disease for adult-onset autosomal dominant neurodegenerative diseases that lack disease-modifying treatments. While such predictions can be important for medical research and valuable in clinical practice, the perspectives of mutation carriers on receiving onset and progression predictions have not yet been explored. In this Dutch qualitative interview study, conducted between May and August 2023, the preferences, views, and concerns of 25 asymptomatic mutation carriers of Huntington's Disease, Spinocerebellar Ataxia type 1, or Spinocerebellar Ataxia type 3 regarding onset and progression predictions were examined. Reasons for wanting to receive onset and progression predictions included life planning, preparing for the disease, informing family members, and reducing uncertainty and hypervigilance. Reasons against included concerns about negative psychological effects, the expectation of similar disease progression as family members, and a preference for receiving progression information at a later stage. Most participants were open towards disclosure of onset predictions but more hesitant regarding receiving progression information. The reasons expressed and the preferred predicted age ranges varied among age groups, and some differences in preferences were observed between the three diseases. These findings may guide the development and responsible implementation of such prognostic models and can support healthcare professionals in the counselling of mutation carriers of adult-onset genetic neurodegenerative diseases.
目前，新的研究项目旨在开发预后模型，以更准确地预测缺乏疾病修饰治疗的成人发病常染色体显性神经退行性疾病的发病年龄和疾病进展。虽然这种预测对医学研究很重要且在临床实践中有价值，但尚未探讨突变携带者对接受发病和进展预测的看法。在这项于2023年5月至8月进行的荷兰定性访谈研究中，研究了25名亨廷顿舞蹈症、1型脊髓小脑共济失调或3型脊髓小脑共济失调的无症状突变携带者对发病和进展预测的偏好、观点及担忧。希望获得发病和进展预测的原因包括生活规划、为疾病做准备、告知家庭成员以及减少不确定性和过度警惕。反对的原因包括担心负面心理影响、期望与家庭成员有相似的疾病进展，以及倾向于在后期获得进展信息。大多数参与者对披露发病预测持开放态度，但对接收进展信息更为犹豫。不同年龄组表达的原因和偏好的预测年龄范围有所不同，三种疾病之间也观察到了一些偏好差异。这些发现可能会指导此类预后模型的开发和负责任的实施，并有助于医疗保健专业人员为成人发病的遗传性神经退行性疾病突变携带者提供咨询。
