Written evidence submitted by Professor Emily Farran (SFC0061)

Shape Research, Change Lives: Setting priorities in genetic syndrome research https://www.surrey.ac.uk/research-projects/shape-research-change-lives-setting-priorities-genetic-syndrome-research#outputs

 

Summary

  1. Down syndrome (DS), Fragile X syndrome (FXS), Williams syndrome (WS) are example populations who are identified as having Special Educational Needs, and typically attend mainstream primary school. In the Shape Research, Change Lives project, funded by the Baily Thomas Charitable Fund and University of Surrey Higher Education and Innovation Fund (HEIF) allocation, we documented the research landscape on DS, FXS and WS, and asked the communities (children and adults with DS, FXS, and WS, their families, practitioners, and researchers) what their research priorities were.
  2. Of direct relevance to this select committee call for evidence on support for children and young people with special educational needs, we found that intervention and services were areas of research which received the lowest amount of funding (“treatment and intervention”: 5%; “services” 3%) and represented one of the lowest volumes of journal articles (“treatment and interventions”: 9%; “services”: 9%).
  3. In order for support for those with SEN to be effective, with strong outcomes, it should be evidence based. Yet, currently, there is so little research on intervention and services that this is scarcely possible - a comprehensive evidence base does not yet exist. To fill this gap, research on interventions and research on services should be prioritised. There is also a gap between knowledge and practice. Resource should be allocated for the translational work on interventions that is needed for policy makers to use the research to best inform evidence based support for those with SEN. More research on interventions and services, effective translated, would enable the support available and outcomes achieved for those with SEN to be optimised and would restore confidence in SEN provision.
  4. Thus, whilst recent advances in policy, such as the Down Syndrome Act 2022, the Rare Diseases Framework 2021, and the Disability Action Plan 2024, provide hope for improved opportunities for people with these genetic syndromes and others who experience similar issues, the communities are calling for funders and researchers to prioritise a more balanced portfolio of research to include, among other applied areas, more work on interventions ands services. If this was to be realised, this would pave the way for the support available to those with SEN have maximum impact on outcomes.

 

Method

  1. To understand the research landscape, we reviewed over 3,500 journal articles published between 2013 and 2022. We also reviewed funding awarded by 24 grant-giving organisations during this time period. We designed a survey, with input from focus groups, which was completed by close to 500 people. Furthermore, 39 people, including children, took part in online focus groups or interviews. They told us what they thought of the current research portfolio for DS, FXS, and WS, and what research should be prioritised by funders and researchers.

Relevant Key findings

  1. Our report demonstrates a steady pace of research outputs between 2013 and 2022, and £26 million of funding over this ten year period. Genetic syndrome research in the UK is dominated by research in a few key areas. The majority of research on DS, FXS and WS is concentrated on basic science, that is, understanding the processes and mechanisms that support the brain, body, and cognitive functions of people with DS, FXS and WS. In contrast, across all three genetic syndromes, there is less research on treatment and interventions, services, lifespan issues, societal issues and research infrastructure. Notably, “treatment and interventions” and “services” constituted two of the top five priorities for research rated by our communities. There was an increase in funding in the second half of the decade, relative to the first, for treatment and interventions and for services. This is encouraging, but the limited volume of this work is still out of kilter with the dominance of basic science research.
  2. Our communities also told us that the concentration of research towards basic science needed to change. Our focus groups expressed a need for a “shift” in the research agenda, whilst 70% of survey respondents were dissatisfied with the current research portfolio, stating that more balance was needed across the portfolio of topics. Our stakeholder groups were consistent in supporting the current focus on aspects of basic science, such as biology (e.g., “Knowing more about the health/medical issues of people with DS/FXS/WS”). However, they agreed this should be complemented with research that has more immediate and direct application to the lives of the people in these communities, including research on treatments and interventions (e.g., “What interventions and treatments work best for people with DS/FXS/WS.”) and services (e.g., “How doctors, teachers, social workers, bus drivers and others can help meet the needs of people with DS/FXS/WS.”). That is, they weighted research which will directly affect their everyday lives as just as necessary as a continued focus on basic science.

Conclusions

  1. We have shown that there is a mismatch between the current research landscape and the research priorities of the communities that it is meant to serve. This exemplifies the need for increased collaboration between researchers, research funders, and the communities that the research is focused on. We recommend: 1) Future investment should redress the balance by maintaining our UK stronghold in basic science, but should increase research on areas that matter most to our communities, including treatment and interventions and support for those with SEN. 2) Furthermore, the lived experience of the communities should be taken as a serious contribution at all stages of intervention and service development. We have shown that the benefits of co-production approaches are manifold – for researchers and community members. 3) Existing SEN data of support and outcomes should be made available. These rich datasets could be used to determine evidence of intervention and service effectiveness. This represents a long-term cost-effective solution to enable researchers and policy makers to answer questions regarding SEN provision. 4) Researchers must make research accessible in order to assist evidence-based decisions related to SEN support.
  2. Together, these steps would ensure that the support available to those with SEN would have maximum impact on outcomes.

 

To cite our report, please use: Cristescu, L., Scerif, G., Pellicano, E., Van Herwegen, J., & Farran, E. K. (2024). Shape Research, Change Lives: Setting priorities in genetic syndrome research. https://doi.org/10.31234/osf.io/whbfp

November 2024