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19th January 2022

SAIL Databank’s Analytical Services Team Supports Innovative UK Catalogue Of Disease Definitions

Health Data Research (HDR) UK recently launched the HDR UK Phenotype Library; a new resource supporting the sharing of electronic phenotypes (definitions of how health data can be used to measure real-world concepts relevant to research and clinical care).

HDR UK is the national institute for health data science that unites the UK’s health data to enable discoveries that improve people’s lives by providing access to large scale data and advanced analytics.

Electronic Phenotyping refers to the science of measuring health characteristics of individuals – such as diagnosis with a disease – within data. This is critical work to support high-quality research to improve patient health and well-being.

The phenotype library was built on SAIL Databank’s own Concept Library tool and has been developed by a multi-institutional team from Birmingham, Dundee, Kings College London, Oxford, Swansea & UCL universities and funded by HDR UK.

It’s hoped the new library will maximize the public and patient benefit of using health data by supporting faster, better-quality research as well as providing greater transparency.

“…this latest launch is a huge step forward towards a full catalogue of human disease. Its potential is enormous.”

Colin Wilkinson, patient and member of the Phenomics for Patient Action Group

The Library holds more than 750 definitions from numerous contributing organizations across the UK, spanning critical disease areas including heart disease, cancer, COVID-19 and many others. It is an open platform that welcomes contributions from anyone in the field of health data research and makes content accessible to researchers, health care professionals, patients, and the public.

Dan Thayer, Senior Data Scientist and Development Lead for SAIL Analytical Services, said, “Enabling researchers to share, document, and reuse the solutions they create has long been a core part of SAIL’s philosophy—a focus of our development, and is even written into the user agreement that every SAIL researcher signs. We are excited to see this increasingly recognised and funded as an important area of research, and it was great to collaborate with an outstanding pan-UK team on this work.”

The Library is interoperable with other tools and resources via an API – software that enables applications to communicate – making it part of a broader ecosystem driving the next generation of health research methods. It is currently integrated with the HDR UK Innovation Gateway, which holds extensive information about UK health data sources, including Phenoflow; a tool enabling the definitions to be executed on health data and produce results.

Professor Harry Hemingway, Director of Health Data Research UK London, said, “The new launch of the HDR UK Phenotype Library is a clear step forward in providing patients and clinicians with useful data-driven definitions of the diseases and conditions that matter.  There is now a much wider coverage of diseases (more than 700 phenotypes) and interoperability with tools to generate phenotypes using electronic health records for better healthcare and research”

This new collaborative tool will enable researchers to use this resource on critical research with the potential to accelerate improvements in patient health and wellbeing.

SAIL has also developed a security model enabling the Phenotype Library to be available within the SAIL Gateway secure environment, so that researchers can access and immediately apply phenotype definitions to SAIL datasets, using the API as well as an R package. This security model could enable access within other Trusted Research Environments (TRE’s) in the future.

For more information, visit the Phenotype Library at https://phenotypes.healthdatagateway.org. SAIL users can access it inside the SAIL Gateway at https://conceptlibrary.sail.ukserp.ac.uk/HDRUK.