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Why does this matter?

Advances in genetic testing mean the NHS may soon offer genome-wide screening to all newborns, but we currently lack clear evidence about what many genetic findings mean for children’s development, education, and long-term outcomes.

What do we want to find out?

This research aims to explore how genetic and socio-environmental factors interact to shape the developmental trajectories and life outcomes of individuals with NDDs, integrating population-level health, education, and genomic data to identify actionable insights for early intervention and support.

What we will do

This project will use genetic data from Genomics England to create phenotype groups to identify children with neurodevelopmental conditions, and apply these groupings to ECHILD to investigate health and education outcomes. Through using these datasets together, we aim to investigate how genetics and social and environmental factors combine to shape the lives of children with neurodevelopmental conditions. By looking at children across the population, including siblings, the research will help guide early intervention, improve support for families, and ensure genetic screening is used responsibly and effectively.

Background and aims

Genomic data is at the forefront of scientific investment and is rapidly transforming healthcare. However, it remains inadequately integrated with population-level health, social, and education data, limiting its ability to deliver broader societal benefits beyond specific medical applications. The UK is uniquely positioned to lead this integration, with lifelong electronic health records for over 65 million people from the National Health Service (NHS), advanced genomic data from Genomics England (GEL), and longitudinal education data for over 20 million pupils from the National Pupil Database (NPD). Through these datasets, biomedicine and population health sciences can be combined to identify and track – on a population scale – risk factors and longitudinal outcomes for heritable conditions of social interest, such as neurodevelopmental disorders.

Methods and analysis

Using linked genomic and Hospital Episode Statistics (HES) Admitted Patient Care (APC) data from Genomics England (GEL), we will apply machine learning methods to derive data-driven phenotype groups among children with rare neurodevelopmental disorders. Because HES APC is shared across datasets, these phenotype groups can be mapped onto ECHILD. We will benchmark this approach against clinical rule-based phenotyping in the same population. Using the resulting phenotype profiles, we will examine health and education outcomes in ECHILD, then triangulate findings with UK Longitudinal Linkage Collaboration (UK LLC) data to explore more granular, self-reported outcomes.

ECHILD data used

• HES: APC and OP data 2003-2023

• National Pupil Database 2007-2022

As part of our research into the long-term outcomes of children with genetic conditions, we ran a focus group with six mothers of children with rare genetic disorders, in partnership with the charity UNIQUE. The session explored what information parents most need when their child is first diagnosed, what they would want to know about the outcomes of older children with the same condition, and what matters most to them when thinking about their child's future.

Parents described the shock and confusion of diagnosis, gaps in information and support, and the difficulty of finding trustworthy guidance for conditions that exist "on a spectrum."

Many spoke about the emotional weight of planning for their child's future, including who would care for them in later life, alongside the day-to-day challenge of simply managing the present.

These insights are directly shaping our research. We are exploring how linked, anonymised health, education and social care data could be used to build population-level "outcomes profiles" for specific genetic conditions, and a "knowns and unknowns" summary that clearly separates what the data can and cannot tell families, helping to support earlier planning and clearer conversations about a child's future.