Haemato-oncology – Whole Genome Sequencing
The Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) service is now available for a limited number of clinical indications. The service is in a testing phase and for patients where genetic testing has not been previously performed, parallel testing using current practice is indicated.
A more detailed description of this information can be downloaded here:
Patients will be given the opportunity to participate in the National Genomic Research Library. Find more information about the here: National Genomic Research Library
Please contact the East GLH team with any queries – email@example.com (please include “Haem-onc WGS” in the subject heading).
Genomic Medicine Service Portal
The GMS WGS Portal can be used to search for available clinical indications and eligibility criteria. You must be using a NHS computer to use this portal.
Clinical Indications Available for WGS
The following patients are eligible for WGS within haemato-oncology:
- All patients (adult & paediatric) with acute leukaemia (includes acute myeloid leukaemia, acute lymphoblastic leukaemia and acute leukaemia of ambiguous lineage) at initial diagnosis and/or on relapse.
- Paediatric patients (aged 19 and under) with any other type of haematological malignancy at diagnosis and relapse.
Samples for WGS
For most Trusts, an acute leukaemia tumour sample (blood or bone marrow) will be submitted by the local Single Integrated Haematological Malignancy Diagnostics Service (SIHMDS).
The clinical team need to submit a germline sample, either saliva or a skin biopsy (see clinician guidance above). For further advice about individual patients, please contact firstname.lastname@example.org (please include “Haem-onc WGS” in the subject heading).
WGS Test Request Forms
Test request forms are required for germline samples (see below for CUH patients). Tumour sample request forms will be completed by the local SIHMDS, but if an SIHMDS service is not used then a clinician from the referring hospital would need to send a form with the blood or bone marrow sample.
The GMS WGS Portal can be used to generate a partially completed WGS test request form for you to download and print. The WGS Haem-onc test request form can be downloaded here:
Download this form onto your computer to enable electronic editing.
For germline samples from CUH patients, a test request form is not needed but the sample can be collected with the epic order “HODS WGS GERMLINE DNA EXTRACTION [LAB8586]”.
Patient Choice Consent Framework
Referring clinicians must complete Patient Choice Consent Framework training prior to ordering a WGS test. Please find the East GLH online training portal here:
Patient Choice – Record of Discussion Forms
A Record of Discussion form must be completed for each patient. The WGS Record of Discussion form can be downloaded here:
Please send completed documents to:
CUH Genomic Laboratory, Box 143, Cambridge University Hospitals, Cambridge, CB2 0QQ.
Electronic copies of completed documents can also be sent to email@example.com (please include “Haem-onc WGS” in the subject heading).
The Patient Choice discussion can be performed remotely. If verbal consent for WGS testing is obtained in this way, the patient signature box should be left blank and the clinician should write on the form that consent was verbally obtained during telephone consultation. The referring clinician should then sign the form in the usual clinician box (Section – “Healthcare professional use only”).
Patient Information Leaflets
Record of Discussion – Consultee Declaration Regarding Genomic Testing
National Genomic Research Library – Young Person Assent Form
National Genomic Research Library – Withdrawal Form
NHSE policy – WGS Adaptations to seeking and recording patient choices in the GMS in the context of increased remote working