Exploring mutation carriers’ preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study

Human Genetics, vol. 144, pp. 665–677

Abstract

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.

Authors 6

1. Max J. Rensink corresponding

   Erasmus MC

   Affiliation as printed

   Medical Ethics, Philosophy and History of Medicine, Erasmus University Medical Centre, Dr. Molewaterplein 40, Rotterdam, 3015 GD, The Netherlands. m.rensink@erasmusmc.nl

2. Maartje Schermer

   Erasmus MC

   Affiliation as printed

   Medical Ethics, Philosophy and History of Medicine, Erasmus University Medical Centre, Dr. Molewaterplein 40, Rotterdam, 3015 GD, The Netherlands

3. Aad Tibben Aachen Department of Clinical Genetics

   Leiden University Medical Center

   Affiliation as printed

   Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands

4. E. K. Bijlsma Aachen Department of Clinical Genetics

   Leiden University Medical Center

   Affiliation as printed

   Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands

5. Susanne Tamara de Bot Aachen Department of Neurology, Leiden University Medical Center (LUMC)

   Leiden University Medical Center

   Affiliation as printed

   Department of Neurology, Leiden University Medical Center, Leiden, 2333 ZA, The Netherlands

6. Job Kievit

   Erasmus MC

   Affiliation as printed

   Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, 3015 GD, The Netherlands