A National Population-Based E-cohort of People with Psychosis (PsyCymru) Linkage of Phenotypical and Genetic Data to Routinely Collected Records

摘要

IntroductionPsyCymru was established to investigate the feasibility of linking a prospectively ascertained, well characterised (linked clinical cohort) of people with psychosis in Wales, UK with large amounts of anonymised routinely collected health record data. We are now additionally linking genetic data. Objectives and ApproachPsyCymru aimed to create a research platform for psychosis research in Wales by establishing two cohorts. The first was a well-characterised clinically assessed cohort with genetic data. Consented individuals underwent structured interviews using well-validated questionnaires and gave blood sample for DNA extraction, sequencing, and candidate gene identification. This data was then linked to routinely collected health and social datasets with identity encryption. The second is a larger e-cohort of prevalent psychosis cases created using a validated algorithm applied to anonymised routine data. Both cohorts were tracked prospectively and retrospectively in the Secure Anonymised Information Linkage (SAIL) databank. ResultsIn total, data from 958 individuals for the clinical cohort were imported to SAIL. Among these individuals, genetic data for 740 were analysed. The genetic data included robust loci for schizophrenia, pathogenic copy-number variations (CNVs) for various conditions (e.g., autism, intellectual disability, congenital malformations), polygenic risks scores for schizophrenia, as well as pathogenicon-pathogenic duplications or deletions of chromosome spanning more than 500kb or 1Mb. For the e-cohort, 29,797 individuals were found having a psychosis diagnosis from primary and secondary care between 2004 to 2013. Social demographic data for both cohorts were also analysed based on sex, age, area deprivation, urbanicity, and employment status. Conclusion/ImplicationsThis unique platform pooled data together from multiple sources; linking clinical, psychological, biological, genetic, and health care factors to address assorted research questions. This resource will continue to expand over the coming years in size, breadth and depth of data, with continued recruitment and additional measures planned.