1 in 17 people are born with or develop a rare disease during their lifetime. 80% of rare diseases have an identified genetic component. However, there are usually significant diagnostic delays. The 100k Genome project was established to collect clinical data, genomic sequencing and samples from people with cancer and rare diseases, to better understand disease and find novel treatments and interventions. This includes rare cardiovascular, ciliopathy, endocrine, gastroenterological, haematological, metabolic, neurological, renal, respiratory skeletal and rheumatological disorders and cancers.

The PIONEER University Hospital Birmingham (UHB) secondary care 100k genomics dataset contains granular demographic, morbidity, treatment and outcome data, supplemented with acute care contacts with serial physiology, blood biomarker data from UHB patients recruited to this programme, to better understand the acute healthcare needs of this group of patients.

PIONEER geography: The West Midlands has a population of 5.9M and includes a diverse ethnic and socio-economic mix. There is a higher than average percentage of minority ethnic groups and a higher than average proportion of patients with rare diseases. Birmingham is home to the first Centre for Rare Diseases for adults and children, treating more than 500 rare diseases and 9000 patients per year.

Electronic Health Records: University Hospitals Birmingham NHS Foundation Trust (UHB) is one of the largest NHS Trusts in England, providing direct acute services and specialist care across four hospital sites, with 2.2M patient episodes per year, 2750 beds and 100 ITU beds.

Scope: All patients recruited to the 100K genome project from UHB. This includes all routinely collected health data for all these patients, but data is uniquely supplemented with all acute care contacts through UHB. The dataset includes highly granular patient demographics and co-morbidities taken from ICD-10 and SNOMED-CT codes. Serial, structured data pertaining to acute care process (timings, staff grades, specialty review, wards), presenting complaint, acuity, all physiology readings (pulse, blood pressure, respiratory rate, oxygen saturations), all blood results, microbiology, all prescribed and administered treatments (fluids, antibiotics, inotropes, vasopressors, organ support), all outcomes.

Available supplementary data: Matched controls; ambulance, synthetic data. Available supplementary support: Analytics, Model build, validation and refinement; A.I.; Data partner support for ETL process, Clinical expertise, Patient and end-user access, Purchaser access, Regulatory requirements, Data-driven trials, “fast screen” services.