What can we learn about health and healthcare from large-scale, routinely-acquired data in the United Kingdom: Studies in Fragile X Syndrome.

Many studies examining epidemiology and health of individuals with rare genetic conditions or behavioural phenotypes rely on cohorts acquired by individual clinicians or centres. This ensures high quality data can be collected, but often at the expense of the statistical power that can be brought by being able to look at larger cohorts. In this series of studies, we used large-scale, routinely-acquired healthcare data from England to examine questions relating to pre-diagnostic healthcare, epidemiology, healthcare utilisation and mortality in fragile X syndrome (FXS) in larger samples than is often possible.