Genetic processing user guide for NHS genetic services

From 1st January 2019, all Genetics Services on the N3 network (nhs.net) must submit genetic requests for cancer diagnosis information for English patients to the National Cancer Registration and Analysis Service (NCRAS) via the Genetic Information Request Portal (please note this opens in a new window). After these dates, genetic requests will not be accepted by email, post, or fax apart from known exceptions i.e. requests from abroad. Please contact the appropriate British registry for genetic requests for cancer diagnosis information for non-English patients residing in Northern Ireland, Scotland, and Wales – contact details and submission processes are provided in the Appendix.

Generic nhs.net accounts will be needed to log into the portal to submit genetic requests for each genetics service; individual named nhs.net accounts will not have access to the portal. Shared generic nhs.net email addresses will be added to and maintained on a whitelist of authorised users. The whitelist will ensure that only authorised personnel have access to the portal, and it will be reviewed annually to ensure appropriate continued access.

Requesting Consultant must also be provided for each genetic request for GDPR and audit purposes.

Responsibility for appropriate use of access rests with the requesting genetics service, and genetics services take on sole data controller responsibility for any confidential patient information received from NCRAS.

To ensure access rights are maintained, the Registration Lead – Genomics or NDRS Programme Manager – Genomics should be notified of any new email accounts which require access and of any changes in consultant staff. When requesting portal access for a new email account, the generic nhs.net account, service name as it will appear on the screen, and the associated genetic service are needed, as well as the email address of an individual contact in the event of any issues with the shared account.

Dedicated national Genetic Processing Officers will process and return genetic requests for cancer diagnosis information by automation to the requesting nhs.net email account within ten working days from date of submission. Patient demographics provided on the genetic request will be used to locate a match to patient data stored on Encore, the database used by NCRAS, as well as local legacy systems. The standard of returned data should remain consistent or improve during this transition, and genomic test data will now be included where available.

A registered nhs.net email address is required to log in to the Genetic Information Request Portal (please note this opens in a new window) and simply click on 'Create Request'.

The email addresses must be generic rather than belong to a named individual within a genetics service and will be maintained on a whitelist to ensure only appropriate staff are allowed access to the portal. Any email address amendments or additions will need to be supplied to the Registration Lead or NDRS Programme Manager to ensure access is provided to and maintained for valid services.

Image of the genetic information request portal welcome page:

After logging in, you will be taken to the Genetic Information Request Form. The top of the page includes the email address and service name of the requester and the Genetic Service Information held. If any of this information appears incorrect and needs updating, contact the NCRAS administrator, [email protected]. Family (Proband) number/reference should be input and a Requesting Consultant must be chosen from the dropdown list. Both are mandatory fields, as indicated throughout the form by an asterisk.

Making a request

If the requesting consultant’s name does not appear in the dropdown list, use the ‘Other’ option and type the consultant’s name into the free text box which will appear below the Requesting Consultant field. If a consultant is not chosen from the dropdown list, or if ‘Other’ is selected and no name is entered into the text box, the request will not be submitted and an error will appear stating ‘Please choose or provide a consultant’. If ‘Other’ is selected and text is entered into the text box which appears, but then a consultant name is chosen from the dropdown to replace the ‘Other’ choice without removing the text, the same error will appear.

If a genetics service makes frequent use of the ‘Other’ option, this can be audited to identify whether a consultant should be added to the dropdown list. Please contact the Registration Lead or NDRS Programmes Manager if a consultant needs to be added to or removed from the dropdown list for your Service.

The image below shows the top of the genetic information request form with requested by and genetic service information, including mandatory field 'Family (Proband) number/reference' and 'Requesting Consultant'. Error alert shown when ‘Other’ Requesting Consultant is chosen without entering a name into the text box:

The remainder of the request form is where patient demographics and any known cancer details can be populated.

The mandatory fields which must be populated are:

• surname
• forename
• sex
• date of birth
• vital Status

Dates

Date of birth, date of death, and date of diagnosis fields can be recorded as a full date, a month range within a specified year, a year range, or a range between two specific dates. Date ranges for all date fields can be given by including a space between two dates.

Date format help is available beside all date fields: the more precise and accurate the provided dates, the greater the likelihood that a match will be found.

The Encore database cannot search for dates of birth prior to 1880 and matches for old records tend to be less common and, if found, may be less detailed.

The image below shows the date format help screen - more specific accurate dates increases the likelihood of a patient match. 

Mandatory fields

If you attempt to submit a genetic request which does not include a mandatory field or for a living patient without uploading a consent form, the request will not be submitted and any missing fields will be highlighted in red with a note that they can’t be blank or that a consent form must be uploaded.

The image below shows an example of mandatory fields such as sex and vital status. Requests with missing mandatory fields will not be submitted and missing fields will be highlighted in red text with a comment beneath:

Vital status

For patients with Vital Status Alive, a consent form signed by the patient or a relative with legal Power of Attorney must be uploaded by clicking Browse and selecting the appropriate PDF. Consent forms must be in PDF format and the check box must be ticked to indicate a signed consent form has been provided. Proof of power of attorney must also be included in the PDF where a living patient has not signed the consent form themselves.

Consent and power of attorney forms will be stored and regular audits will be carried out to ensure organisations comply with data regulations.

Submitting genetics services have legal responsibility for ensuring data compliance by providing appropriately signed consent and power of attorney forms. Any genetics service which fails to supply signed consent and power of attorney forms may be liable to have their access to the portal revoked.

The image below shows the 'Patient Information' fields for living patients and the consent form upload and check box.

When Vital Status Deceased is chosen from the dropdown menu, a Date of death field will appear instead of the consent form field. Deceased patients on requests who appear alive on NHS Summary Care Record tracing will be returned unactioned with a response comment that the patient is alive on tracing. A new request will need to be submitted with either a signed consent form if the patient is living or with proof of death emailed securely to [email protected] beforehand. A note in the comment box that proof of death has been emailed should be included to ensure appropriate return.

The image below shows the 'Patient Information' fields for deceased patients which includes the 'Date of death' field. Whilst the 'Date of death' is not mandatory, it will help with a positive result if completed.

Traceable strength

A traceable strength bar at the bottom of the page updates as fields are populated to indicate the likelihood – low or good – that a patient can be traced or a match identified on Encore. A valid NHS number greatly increases the chance of a positive match: including an NHS number is the gold standard to identify the correct patient.

A low traceable strength is when only mandatory fields Surname, Forename, Sex, and Date of birth are completed for a deceased patient with suggested fields to populate to improve traceable strength.

A good traceable strength is when NHS number is populated in addition to Surname, Forename, Sex, and Date of birth for a living patient. A consent form would need to be provided before submitting.

If submitting requests for multiple family members, it can be helpful to include in the comments box the family/proband or genetic request reference number (provided on the submission confirmation page pictured below) for requests for other family members. Correlating surnames and addresses for family members with a cancer diagnosis can help confirm a potential match where patients have married or moved if other information is inaccurate or not supplied, such as providing a current address for a patient when they were diagnosed while living with or close to family.

Submitting a request

Review all fields carefully, because requests cannot be amended once submitted. After clicking submit, the following page will confirm the request has been submitted and will be completed within ten working days. It is not possible to flag requests as urgent, so please ensure when submitting genetic requests for cancer diagnosis confirmation that you have factored in the ten working days response time.

The below image shows the genetic information request submitted confirmation screen and example reference ID:

Genetic requests for cancer diagnosis confirmation submitted by genetics services are received and returned by a small national team of genetic processing officers.

When searching for patient matches to return information to a genetics service, the only search fields the genetic processing officers can populate are:

• forename(s)
• surname(s)
• date of birth
• NHS number

There is no way to search the Encore database used by NCRAS by sex, date of death, or address.

When returning database search results, only the first 100 possible patient matches are shown.

A patient with a common forename and surname and a large birth date range may return no search results at all, due to the system’s inability to search a vast range of potential matches.

Due to these search restrictions, if the majority of returned search results for a unisex name are female, but the patient is male or vice versa, or if a patient has a common or commonly misspelled name, the number of possible correct matches to manually choose from could be dramatically reduced.

How to Improve Rate of Patient Match Return

To identify the correct patient match from hundreds of thousands of patients on the Encore system, genetic processing staff manually check additional patient information provided at the time of the patient’s cancer diagnosis.

To increase the chances of a patient match being found, genetics services should provide as much information as possible. This can be done by:

1. populating more fields
2. including vague information where specifics are not known rather than leaving fields blank
3. adding extra information in the comment box, including whether additional requests were sent for the same proband number to correlate family location and historic names

While an NHS number is the gold standard for finding a patient match from specific information, any information a genetics service knows and provides can be used to narrow down a patient match – the more specific this is, the better.

Please also remember that demographic information first enters Encore at point of diagnosis. If additional information is not received after the diagnostic period due to lack of treatment, lack of recurrence, or a long lapse between diagnosis and later cancer events, this demographic information may not be updated. For this reason, please ensure patient demographic information is provided for the time of diagnosis or, if this is not known, it is specified in the comment box that demographic information provided on the genetic request form is not from date of diagnosis.

Please not that consent forms will not be checked for supplementary demographic information. Genetics services must provide all known information on the Genetic Information Request Portal form.

Encore holds millions of patient records to search, with new data received by NCRAS every day. The more patient demographic information genetics services provide, the better the chances that the correct match can be found.

Less specific information or information known with less confidence is always more useful for returning a patient match than leaving genetic request fields blank.

To help the genetic processing officers to provide the best service for genetics services to aid patients and families, please try to ensure information from patients and their relatives is present and as specific and detailed as possible on the Genetic Information Request Portal form.

Genetic request responses will be generated by Genetic Processing Officers (GPO) on Encore and emailed by automation from [email protected] to the nhs.net account used to submit them. Replies to automated emails will not receive responses.

If a patient has not been found from potential lack of accurate or precise information e.g. a large date range with a common forename and surname, or if there is a vital status mismatch and a patient still appears living on NHS Summary Care Record tracing, a new request with additional information may be submitted. In exceptional cases, the Registration Lead or NDRS Programme Manager may be contacted about specific requests, but the need for this should be rare. All available data from Encore and local legacy systems will be checked to ensure a match is identified where possible, and no additional data will be obtainable without more specific new information such as post code or NHS number to increase the chances of a match, and in this case a new request could be submitted.

Genetics services take on sole data controller responsibility for confidential and sensitive patient identifiable data received by Public Health England and the National Cancer Registration and Analysis Service. Genetics services should ensure the appropriate handling, storage, and sharing of any data, including printed out genetic response emails.

Below is the format the automated email response will take and the fields which will be included where provided.

Response Comments will confirm if no patient has been found, and there will be no patient demographics or tumour details from NCRAS. Patient demographics sent by genetics services will still appear for patients with no trace, and this should not be confused for a cancer confirmation.

Response Comments is also where a request for a deceased patient on the submitted request with a living patient on NHS Summary Care Record tracing will explain why the request has not been actioned and explain that a new request should be submitted with either a signed consent form uploaded on the portal or a death certificate emailed to the Registration Lead as proof of death and notification included in the comment box.

]he new request will be returned within a new ten working day timeframe. The response time for a repeat request due to a vital status mismatch or insufficient or incorrect information is not included in the ten working days of the initial request.

Tumour Details

Tumour registrations held by NCRAS may be recorded as the following statuses:

• final - A complete registration for a confirmed cancer diagnosis. As data continues to be provided from various sources, these registrations may accumulate further details of molecular testing, treatment, recurrence, or nodal or metastatic spread
• provisional - An open registration undergoing current investigation
• treatment only - Used in rare instances of an extra-regional diagnosis with local treatment given. Little or no diagnostic information may be available
• referenced - A closed case appropriately investigated for a cancer diagnosis which was not confirmed. Tumours are referenced if a definitive cancer diagnosis was not made in context with full information; if the cancer diagnosis related to an existing final registration (such as recurrence or nodal or metastatic spread from a finalised primary); or a patient with cancer lived abroad at date of diagnosis. Referenced cases will not be included on genetic request responses.

Genetic responses will include all final and provisional tumour registrations held for a patient. Molecular data received for genetic tests carried out by participating laboratories since 2016 will be included if present. This will include:

• the laboratory name
• the date the test was performed, reported, or authorised
• test status
• gene
• whether the sample was somatic (tumour specific) or germline (inherited, familial)

Genetic request cancer information sent to genetics services by NCRAS relate to cancer diagnosis data extracted from various data sources. Genetic request responses will supply:

• tumour site
• histology/morphology
• laterality
• all diagnosis and treating hospitals
• molecular/genetic status if known

The most current, specific confirmed information available is provided, though it may be a non-specific tumour site or histology/morphology e.g. carcinoma NOS if a more specific diagnosis could not be confirmed.

Examples of varying levels of information specificity to include on the Genetic Information Request Portal to help identify a patient match include:

Steven Hardy - Head of Molecular and Diagnostic Data

Tel: 07970 225 954

[email protected]

Fiona McRonald - NDRS Programme Manager

Tel: 0121 214 9145

[email protected]

Sophie Richardson - Registration Lead - Molecular and Genetics

Tel: 0113 855 7476

[email protected]

Northern Ireland

N. Ireland Cancer Registry‌
Centre for Public Health
School of Medicine, Dentistry & Biomedical Sciences
Queen's University Belfast
Mulhouse Building
Grosvenor Road
Belfast
BT12 6DP
Tel: +44 (0)28 9097 6028

Northern Ireland genetic requests website

Scotland

Genetics Genealogy Service
NHS National Services Scotland
Area 151A, First Floor
Gyle Square, 1 South Gyle Crescent
Edinburgh
EH12 9EB

Email: [email protected]
Tel: 0131 275 6453; 6823 or 0131 314 1074

Scotland genetic requests website

Wales

Public Health Wales
Knowledge Directorate
Welsh Cancer Intelligence
Floor 5, Capital Quarter 2
Tyndall Street
Cardiff
CF10 4BZ
Tel: +44 (0)2920373500

Wales genetic requests website