Understanding patient engagement: exploring factors around utilisation of screening and surveillance services in individuals with or at risk of rare endocrine syndromes

Abstract

Individuals with rare genetic endocrine syndromes, such as von-Hippel Lindau, Multiple Endocrine Neoplasia and mutations in the succinate dehydrogenase complex genes can develop diverse and unpredictable new tumour formations. Regular screening is recommended as best practice for early detection and management of tumours in those deemed at risk. However, little is known about screening attendance in gene carriers and the experiences of screening which may influence attendance. The aim of this thesis was to address this gap by gaining a deeper understanding of how individuals carrying genes for rare endocrine tumour syndromes comprehend and use health services generally and, in particular, the service provided by the Barts endocrine screening clinics. This was a multimethod three staged study in the context of a national specialist clinic. Study 1 was a retrospective cohort study to determine screening attendance rates over a three-year period and examine the relationship between patient demographic characteristics and attendance. Study 2 examined the experience of attending appointments through in-depth interviews with 12 participants. Study 3 was designed to enhance engagement with initial screening through the co-production of an information resource using focus groups. Integration of qualitative findings explored the relationship between the themes. Study 1 identified an 83.27% attendance rate. Attendance showed no significant association with patient demographic characteristics. Study 2 interviews illuminated how the complexities of living with an incurable diagnosis interacted with the anticipation and attendance at screening. Study 3 resulted in a simple leaflet with signposting, noting the importance of reassurance and availability of family clinics. Issues regarding data quality and recruitment were encountered. These studies contribute to understanding of and engagement with patients with rare syndromes and screening. Considerations of data collection, life-course, diagnosis familiarity, family dynamics, practical accessibility and navigating the system are specific and novel insights that should inform future service delivery.