Genomics Data set

The National Disease Registration Service (NDRS) is responsible for the collection, curation, quality assurance and analysis of comprehensive population-based cancer and rare disease data across England. Genomics data is a key component of disease registration at a national level. Genetic or genomics testing can be performed in the oncology and rare disease settings for a number of reasons, including:

• confirming diagnosis of a rare condition in a patient with clinical manifestations of that condition
• establishing whether cancer diagnoses in a patient or family have arisen due to an inherited cancer predisposition syndrome
• offering predictive or prenatal genetic testing to family members whose relative has a known genetic condition
• distinguishing between benign versus malignant tumours or leukocyte proliferations
• discerning diagnostic or prognostic subtype of a malignant tumour to guide treatment regimen
• identifying tumour molecular aberrations that are potentially targetable with precision oncology or immunotherapy treatments
• determining pre-treatment which patients are at risk of severe toxic reactions to chemotherapy or other medications (pharmacogenomics)

NDRS collects granular genetic test and outcome data, and uses it to support disease registration, screening, direct patient care, research and clinical audit.

Data submissions are required from all NHS Trusts hosting either a Genomic Laboratory Hub (GLH), or a genomics, haematology or molecular pathology laboratory that is independent of the GLH system. We also encourage laboratory submissions from non-NHS providers. Where the GLH work is performed in Local Genomic Laboratories (LGLs), we are happy to receive data either from the main GLH or directly from its subsidiary LGL. However, the legal onus to submit data rests upon the Trust housing the GLH.

Setting up a data collection

Most genomics data submissions from laboratories should be sent to [email protected].

Genomics data submissions relating to inherited predisposition to cancer are collected via a separate route, the NDRS Upload Portal (Secure), which is accessible from computers on the NHS network. To be granted the relevant access, NHS Clinical Genetics services (for Lynch Registry & National Inherited Cancer Predisposition Register) should contact us at [email protected], and Genomics Laboratories should contact us at [email protected].

The table below gives a brief overview of the data items contained within the Genomics Data set.  For a more detailed description of the data set, the expected format and the mandatory items please contact the Genomics team at [email protected].

Our Directions and legal basis for collecting data are outlined on our website National Disease Registries Directions 2021 - NDRS

We have produced a patient information leaflet on genetic test data, which explains what information is recorded in NDRS and why.

Genomics Dataset

• Organisation identifier (Code of submitting organisation)

• NHS Number

• Forename(s)

• Surname

• DOB

• Postcode

• Sex

• EDD

• Requesting Hospital

• Requesting Consultant / Dr

• Requesting Hospital Patient ID

• Service Level

• Sample Collected Date

• Sample Analysis Requested Date

• Sample Received In Lab Date

• Report Date

• National Genomic Test Directory Code

• Clinical Indication (Categorical)

• Clinical Indication (Free text)

• Test Type

• Laboratory Specimen ID

• Specimen Type

• Method Of Test

• Test Result Category

• Gene / Protein

• cDNA Change

• Protein Impact

• Karyotype / Fish Result

• Other Result - Any Test Type

• Assigned Pathogenicity Score

• Refseq Transcript ID

• Zygosity

• Percentage Mutant Allele / Abnormal Karyotype

• Clinical Implications / Conclusions

The standard submissions schedule is quarterly. Submission schedules may alter dependent on the condition or the requirements of the submitting service. Data should be submitted to [email protected]

We are committed to supporting our partners and continuously improving the Genomics Data set. Your feedback and suggestions are always welcome. 

For help and support, please contact [email protected]

Genomics Data Liaison Contacts

Teams submitting data to NDRS can seek advice and support from the Data Liaison Contacts:

[email protected] – genomic data collection and submissions