O8 Disease nomenclature: exploring the views of patients and families affected by rare genetic conditions

Inconsistent naming for rare genetic syndromes – such as multiple, changing, or inappropriate names – can be a barrier to finding information and support. There is an increasing need for an internationally standardised disease nomenclature, which incorporates the views of patients. This study explored the views of individuals and families affected by rare genetic and chromosomal conditions, focusing on their preferences for names, challenges faced, and the impact on accessing information and support. An online mixed-methods questionnaire was distributed via Unique, a charity that supports families affected by rare chromosome and gene disorders. Responses from 117 participants were analysed using statistics and thematic content analysis. Findings revealed a preference for eponymous names, which were easier to remember and explain. Participants with these names reported fewer barriers to support, while some respondents with genetic location-based names felt their condition had ‘no name’. Responses demonstrated that names should be easy to pronounce, spell and remember and be consistent internationally to facilitate access to relevant information. Naming conventions play a crucial role in shaping experiences, and family perspectives must be central to nomenclature development. A unified approach that balances technical accuracy with the emotional, social, and practical impact of nomenclature would improve the patient experience.