The North Thames GLH began live clinical testing for Whole Genome Sequencing at the beginning of 2021. This service is currently only available for very small numbers of selected rare disease (21 indications) and cancer patients (paediatric, sarcoma and acute leukaemia) who will in parallel receive standard genomic tests where they are available.
Clinicians are now able to order WGS for eligible conditions as set out in the National Genomic Test Directory. While we remain in the Live Clinical Testing phase, we will only be submitting a few cases a week for sequencing and so it could be several months before we can report results. However, as the pipelines are fully tested and shown to be robust we will increase the numbers of samples submitted each week and the turnaround time will come down to be more clinically useful for patients. Whilst it may take a while to report results in these early stages we do need to keep collecting samples, so that as soon as we can increase testing we have cases available as we know that with COVID it can be more difficult for patients to access phlebotomy services. We expect WGS to enable faster and more accurate diagnoses for patients than current tests and, in some cases, help identify more personalised treatments based on a person’s DNA.
How to order Whole Genome Sequencing (WGS)
- Check patient is eligible for WGS, select clinical indication and check family structure using
- If using stored DNA please email firstname.lastname@example.org to check that DNA is of appropriate quality, quantity and was taken after October 2018. In email, please state the following:
1. Test type (ie. WGS)
2. Clinical Indication (see Test Directory or Test Selection Tool)
3. Where parental samples are coming from (ie. fresh or stored). Not applicable for cancer.
- In extenuating circumstances, it may be possible to use DNA stored prior to October 2018 but samples must be checked and it is advisable to discuss with the lab first.
Samples cannot be processed until the lab has all of the following forms correctly and fully completed:
|Record of discussion form||Record of discussion form|
|Test order form (Rare Diseases)||Test order form (cancer)|
|Germline sample||Germline sample|
- Please note that you will need to complete one Record of Discussion form for each family member
- There is a family member test order form in the Rare Disease clinican pack provided in ‘Further Resources’
- There is more information about Patient Choice (related to the Record of Discussion form) at the bottom of this page
- If you have a nominated consultee consenting on behalf of a patient over 16 who lacks sufficient capacity, you will need to complete the ‘Consultee Declaration ’ form in addition to the ‘Record of Discussion’
Additional information to support you in delivering WGS can be found here. National guidance and Standard Operating Procedures (SOPs) can be found here. If you have any WGS related questions please contact the GLH through the designated WGS email address
For Whole Genome Sequencing, you must ensure you have your patient’s consent for their genomic testing before you send the sample to the Laboratory for testing. No test will be reported without the applicable signed consent. Given the situation during COVID where many appointments are being conducted remotely, the record of discussion form can be completed virtually by following the Remote Patient Choice Policy. The National patient choice form for Whole Genome Sequencing also indicates whether or not patients consent to their data being used for research and to be re-contacted regarding relevant research projects in the future.
Please do try and have the research consent discussions with your patients. Experience has shown that many people feel very positive about helping further research and this kind of anonymised data will prove invaluable for researchers and subsequently give tremendous benefit to patients and public across the board.