When translated into practice, research can be transformative for the daily lives of people with learning disabilities and those who support them. However, most research is conducted without much consideration of this group’s desired research priorities.
In light of this, researchers at the University of Surrey, University of Oxford, and UCL set out to find out more about the research landscape on three genetic conditions – Down syndrome (DS), Fragile X syndrome (FXS) and Williams syndrome (WS) – all of which are associated with learning disability.
Through consultations with children and adults with DS, FXS, and WS as well as parents, carers, practitioners and researchers, the authors found that most of these community members are generally dissatisfied with the current research landscape and many of their research priorities were underrepresented.
They were also dissatisfied with the amount of funding provided for research on these genetic conditions. Indeed, between 2013 and 2022, less than 1% of research funding was spent on DS, FXS and WS (a total of £26 million). This means that for every person with DS, FXS and WS, the UK spent only £35 on research per year.
So, what needs to change to ensure research meets the needs and expectations of the communities it is designed for?
Shape Research, Change Lives is a research project which aims to set priorities in genetic syndrome research. The project was led by Professors Emily Farran, Gaia Scerif, Elizabeth Pellicano, Jo Van Herwegen and Dr Laura Cristescu.
Prof. Farran says her team were inspired to conduct the research based on their personal experiences of working with people with learning disabilities and their families.
“Researchers don’t always ask the communities what their priorities are. The research came from the realisation from our anecdotal conversations with families that there was a mismatch in what people want and what is being produced,” she explains.
Prof. Farran says the team chose to focus on DS, FXS and WS because all these conditions have a definitive genetic diagnosis. These conditions can all be diagnosed early in life which meant children could be included in the research as well as adults, and the study could speak to issues across the whole lifespan, from birth to adulthood.
“Although we recognise that some priorities differed across these three groups, the top priorities were common to all three groups which means that our findings have relevance to the broader learning disability communities” she said.
The research focused on three key issues: assessing UK funding for research on DS, FXS and WS; reviewing UK journal articles on these genetic conditions; and analysing the communities’ key priorities for research (based on consultations via surveys, focus groups and interviews).
“We started off by conducting a systematic search of the literature,” Prof. Farran said. “We looked at all the UK research from 2013 to 2022. We wanted to know how much had been published and how much had been funded so we could then categorise it into research topics.”
Prof. Farran and the team found that £26 million was spent on research and 627 articles were published in the timeframe with most of this research based on ‘basic science’ i.e. biology and the brain, cognition and co-occurring conditions. The least amount of money, and the fewest publications, were on risk factors, lifespan issues, societal issues and research infrastructure.
People from the DS, FXS, and WS communities were then asked whether their research priorities aligned with the current research landscape. This included nearly 500 people who rated their own research priorities in a survey and a further 39 people, including children, who took part in in-depth discussions.
In total, 70% of respondents were dissatisfied with the current research portfolio, stating that their research priorities were underrepresented, and that more balance was needed across the portfolio of topics. They also identified five top research priorities: interventions and treatments, health, mental health, services, and lifespan issues.
“It’s not that the communities want less research on basic science, but that they want more of these other more applied types of research,” Prof. Farran explains. “For example, they valued basic science research, and two of their top five priorities were physical and mental health which would fall under this category. But equally the other three research priorities weren’t featured very much at all. The communities want to see a better balance.”
Indeed, respondents across all three groups said they wanted more research on interventions and treatments. Despite this, the findings show that just 5% of research funding focused on and 11% on co-occurring conditions including mental health.
“However, there was some good news,” Prof. Farran says. “There was an increase in funding in the second half of the decade compared to the first, and that increase was in areas of research that people wanted more of a focus on such as lifespan issues, services, and interventions and treatments. Although these amounts remained low, this could indicate that funding priorities are beginning to change. We hope that this report influences this positive change.”
Despite these increases, it is important to question why there is so little research conducted on people with these genetic conditions, and learning disability in general. Prof. Farran suggests it could be due to the misperception that because these conditions are not particularly prevalent, they are viewed as less important.
As a result of the findings, Prof. Farran and her team have laid out a set of recommendations to reshape research so that it can better speak to the realities of people’s everyday lives. These recommendations include:
Prof Farran says a lot of these changes would have a “real impact” on communities as they could lead not only to changes in funders’ priorities and research priorities, but also to new policies and legislation.
“This could then have an impact on things like interventions, health inequalities, service provision and understanding lifespan transitions such as access to education, jobs and housing,” she said.
She adds that more research needs to be carried out in a coproduced manner to ensure that people with a learning disability are actively involved in shaping research. By creating a dialogue between researchers and the communities, we can be certain that research is tailored to the realities of everyday life, with mutual benefits for representative recruitment and for accessible dissemination.
“This is very much what we tried to do in this project, and one of the outputs of this project will be an evaluation of how well we conducted the coproduction element.” said Prof Farran.
Carrying out research which truly meets the needs and expectations of communities can also be done in a cost-effective way by utilising and linking together existing data sets, she says.
“Linking datasets together is really useful, but it also requires that datasets include diagnostic labels for WS, DS, FXS and other conditions. Adding diagnostic labels to existing rich datasets is a cost-effective solution to enable researchers and policy makers to answer questions prioritised by the community,” she says.
Finally, Prof. Farran emphasises that we need to make sure research makes a real difference to people’s lives.
“Researchers should commit to the idea that they’re not just going to write a journal article, but that they are actually going to make that research accessible so it can be used to help communities.”
Prof. Farran says research on what is truly desired by communities is vital because it can make a big difference to their lives.
“If our communities are telling us they want research focused on a particular area it is because something is lacking. We want them to have the best life experience they possibly can, and by making researchers, funders and policymakers aware of what these key areas are, we can start to fill these gaps and improve people’s lives.”
