Version: 17.0.0 | Published: 14 Nov 2023 | Updated: 557 days ago
Documentation
Associated Media:
Description:
To identify and enrol participants for the 100,000 Genomes Project we have created NHS Genomic Medicine Centres (GMCs). Each centre includes several NHS Trusts and hospitals. GMCs recruit and consent patients. They then provide DNA samples and clinical information for analysis.
Illumina, a biotechnology company, have been commissioned to sequence the DNA of participants. They return the whole genome sequences to Genomics England. We have created a secure, monitored, infrastructure to store the genome sequences and clinical data. The data is analysed within this infrastructure and any important findings, like a diagnosis, are passed back to the patient’s doctor.
To help make sure that the project brings benefits for people who take part, we have created the Genomics England Clinical Interpretation Partnership (GeCIP). GeCIP brings together funders, researchers, NHS teams and trainees. They will analyse the data – to help ensure benefits for patients and an increased understanding of genomics. The data will also be used for medical and scientific research. This could be research into diagnosing, understanding or treating disease.
To learn more about how we work you can read the 100,000 Genomes Project protocol. It has details of the development, delivery and operation of the project. It also sets out the patient and clinical benefit, scientific and transformational objectives, the implementation strategy and the ethical and governance frameworks.
Is Part Of:
100K Primary Data
Coverage
Spatial:
UK
Typical Age Range:
0-150
Follow Up:
OTHER
Physical Sample Availability:
DNA
Pathway:
Linked datasets cover secondary care.
Provenance
Origin
Purposes:
- CARE
- DISEASE REGISTRY
- STUDY
Sources:
MACHINE GENERATED
Collection Situations:
CLINIC
Temporal
Accrual Periodicity:
QUARTERLY
Distribution Release Date:
30 March 2023
Start Date:
01 January 2014
End Date:
01 January 2019
Time Lag:
2-6 MONTHS
Accessibility
Access
Access Service:
More information about the Genomics England Research Environment can be found
here:
https://www.genomicsengland.co.uk/about-genomics-england/research-environment/
https://research-help.genomicsengland.co.uk/display/GERE/1.+The+Genomics+England+Research+Environment
Genomics England 100k participants have consented to longitudinal lifetime
followup and recontact safely through our clinical network. BRST (Bioinformatics
Research Services) are a team of bioinformatics who know the dataset inside out
and provide consultancy projects on a case by case basis. Our network of
clinical and medical experts can be made available on case by case basis.
Researchers have the opportunity to work with our and access the GeCIP network
who are a community of world-leading experts in specific cancers and rare
diseases.
Access Request Cost:
Fees will be dependent on the type of access that is necessary. Raw data is not
eligible for export. Summary-level data may be exported provided that it is
approved through the Genomics England Airlock Process
Delivery Lead Time:
2-6 MONTHS
Jurisdictions:
GB-GBN
Data Controller:
GENOMICS ENGLAND
Data Processor:
GENOMICS ENGLAND
Usage
Data Use Limitations:
GENERAL RESEARCH USE
Data Use Requirements:
- ETHICS APPROVAL REQUIRED
- PROJECT SPECIFIC RESTRICTIONS
- PUBLICATION MORATORIUM
Resource Creators:
- The 100
- 000 Genomes Project Protocol v3
- Genomics England. doi:10.6084/m9.figshare.4530893.v3. 2017. Publications that use the Genomics England Database should include an author as Genomics England Research Consortium. Please see the publication policy.
Is Referenced By:
Format and Standards
Vocabulary Encoding Schemes:
OTHER
Languages:
en
Formats:
Multiple Formats Available
Enrichment and Linkage
Qualified Relations:
- HES Accident and Emergency
- HES Admitted Patient Care
- Diagnostic Imaging Dataset (DID)
- Patient Reported Outcome Measures (PROMs)
- National Radiotherapy Dataset (RTDS)
- Cancer Registration (AV) tables
- Cancer waiting times (CWT)
- PHE Diagnostic Imaging Dataset (NCRAS_DID)
- Lung Cancer Data Audit (LUCADA)
- Mental Health Minimum Data Set (MHMDS)
- Systemic Anti-Cancer Therapy Data Set (SACT)
- Office for National Statistics - Death details data (ONS)
- HES Outpatient Care
Derivations:
Not Known
Observations
Statistical Population
Population Description
Population Size
Measured Property
Observation Date
Findings
Cancer Tumour - Number of genomes
17,003
Count
30 March 2023
Findings
Cancer Germline - Number of genomes
32,753
Count
30 March 2023
Findings
Rare Disease - Number of genomes
73,517
Count
30 March 2023
Persons
Rare Disease Participants
72,874
Count
30 March 2023
Persons
Cancer Participants
15,624
Count
30 March 2023
Origin
Name:
Genomics England