Version: 1.0.0 | Published: 8 Oct 2024 | Updated: 228 days ago
Documentation
Associated Media:
Description:
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.
Coverage
Spatial:
United Kingdom,England,West Midlands
Typical Age Range:
0-100
Follow Up:
> 10 Years
Pathway:
Secondary care dataset
Provenance
Origin
Purposes:
Care
Sources:
EPR
Collection Situations:
- Clinic
- Secondary care - In-patients
- Community
- Home
Temporal
Accrual Periodicity:
Static
Distribution Release Date:
30 September 2020
Start Date:
01 January 2000
End Date:
04 May 2020
Time Lag:
Less than 1 week
Accessibility
Access
Access Service:
Trusted Research Environments (TRE) are built using Microsoft Azure services and
hosted in the UK to provide research teams a safe, secure and agile environment
which allows users to quickly analyse, interpret and form an enriched view of
primary care information through a range of integrated datasets. Health data
collated from multiple sources is ingested into a secure data lake which will
then allow subsets of data to be made available to research teams on approval of
a data request. Once approved a customer specific TRE is made available with a
standard set of leading analytical tools from Microsoft including Azure
Databricks, Azure Machine Learning, Azure SQL and Azure Synapse (for large-scale
data warehouses). Specific tools can be provided at an additional cost over the
standard platform data access charge and the PIONEER team will work with you to
determine your exact needs. Access to the TRE is managed using the latest
virtual desktop technology to provide a safe and secure end-user experience. By
utilising leading edge design PIONEER are able to create TREs rapidly to enable
us to service any customer requirement.
Access Request Cost:
www.pioneerdatahub.co.uk/data/data-services-costs/
Delivery Lead Time:
Not applicable
Jurisdictions:
GB-GB
Data Controller:
University Hospitals Birmingham NHS Foundation Trust
Usage
Data Use Limitations:
Research use only
Data Use Requirements:
Project-specific restrictions
Resource Creators:
University Hospitals Birmingham NHS Foundation Trust
Format and Standards
Vocabulary Encoding Schemes:
- SNOMED CT
- ICD10
Conforms To:
LOCAL
Languages:
en
Formats:
SQL
Observations
Statistical Population
Population Description
Population Size
Measured Property
Observation Date
Persons
3637 patients recruited to the 100,000 Genomic project within the West Midlands including rare diseases and cancers.
3637
COUNT
18 December 2019