Shape Research, Change Lives: Setting priorities in genetic syndrome research

Background: Thousands of people with a genetic syndrome currently live in the UK, yet research priorities are very rarely shaped by individuals with genetic syndrome themselves. This project begins to address this unmet need. We focus on the following three genetic syndromes: Down Syndrome (DS), Fragile X Syndrome (FXS) and Williams Syndrome (WS). The aim of the project is to understand the priorities of the UK DS, FXS and WS communities and how they compare to the current research landscape. We will disseminate our findings to funders and policy makers, such that, in time, our findings can contribute to improved outcomes for individuals with genetic syndromes. This paper will focus on the findings specific to the DS community.

Research questions:

1. How much research on DS currently exists and what does it focus upon?
2. What are the research priorities of the DS community and how does this align to the research identified in (1)?

Method: We conducted a review of published literature and research funding on DS in the UK in the last 10 years, which we categorised into 10 research topics. We consulted with the DS community on their research priorities via online focus groups and surveys. This included a range of stakeholders: children, adolescents, adults with DS parent/carers, practitioners and researchers.

Results: Preliminary findings indicate a mismatch between the research topics that have received most funding and research attention in the last decade compared to the priorities of the DS community. Most DS research in the UK focused on co-occurring conditions (including Alzheimer's), diagnostic tools and cognition. Research from our community survey is ongoing; based on our focus group findings, there is an indication that the DS community would like to see a shift in research agendas, with more attention given to research with practical implications to daily life, improved access to services and increased societal awareness.

Conclusion: A closer collaboration between the DS community, researchers, funders and policymakers is needed to ensure priorities are aligned and research is having an impact on improving lives.