Exploring patient and carer expectations, experiences, and preferences of/for outcomes from genome sequencing for rare disease diagnosis: A qualitative outcomes model validation study

Background

Rare diseases (RDs), such as Angelman syndrome and retinitis pigmentosa, are individually rare yet collectively affect 6–8% of the general population. Diagnosis can take years and often requires many costly investigations. Genome sequencing (GS) is improving both RD diagnostic yield and diagnostic speed. However, the information uncovered is complex and can impact patients and informal carers across clinical, emotional, cognitive, behavioural and social outcomes. Many outcome models and evaluation frameworks have been proposed for genome sequencing. However, only a handful have adopted a patient‑ and/or carer‑perspective of utility, which is the perspective required when collecting utility data in economic evaluations.

Aims

This study aimed to evaluate the relevance and comprehensiveness of existing outcomes models in the target population, understand the impact of time on participants’ expectations and experiences of genome sequencing, and determine participants’ preferences for different outcomes.

Methods

Adults undergoing GS for RD diagnosis, and informal carers of children and adults undergoing sequencing, were recruited from three United Kingdom (UK) National Health Service (NHS) Genomic Medicine Services (GMS) over a 12‑month period. Participants completed a baseline survey, and a subset were interviewed. The interviews explored participants’ expectations and experiences of genome sequencing, including how these may have changed over time, and participants’ preferences for different outcomes.

Preliminary results

A large sample of 324 participants was recruited (104% of target) and completed the baseline survey, including 152 adults and 172 carers. Of these, 30 were interviewed. Analysis is ongoing.

Preliminary conclusions

This study found that the existing outcomes models are largely relevant and comprehensive in the context of adults undergoing GS for RD diagnosis, and informal carers of children and adults undergoing sequencing within the UK NHS GMS. Outcomes were overlapping and evolved over time. Adults and carers may obtain utility from outcomes experienced by others, such as family members.