Ordering Whole Genome Sequencing

The North Thames GLH began live clinical testing for Whole Genome Sequencing at the beginning of 2021. This service is currently available for selected rare disease (35 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 and await the delivery of informatics management systems from the NHSE and GEL, results may take longer than the expected 12 weeks. Whilst it may take a while to report results in these early stages, all samples received by the lab will be stored until they are able to be dispatched, and we are doing our best to improve turnaround times.

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)

Before ordering

  • If using stored DNA please email gos-tr.wgsnorththamesglh@nhs.net to check that DNA is of appropriate quality and quantity. 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.

Patients that have had WGS through the 100,000 Genomes Project are not eligible for WGS through the Genomic Medicine Service.

To order

Samples cannot be processed until the lab has all of the following forms correctly and fully completed:

Rare DiseaseCancer
Record of discussion formRecord of discussion form
Test order form (Rare Diseases)Test order form (cancer)
Germline sampleGermline sample
Tumour 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’

Please note, many WGS cases will need to be discussed at an MDT. You must be prepared to attend an MDT if you wish to order WGS for your patient. If this is not possible then the patient should be referred to a clinician familiar with WGS and MDTs.

Further Resources

The Clinician Packs (Rare Disease and Cancer) contain all the forms you will need in order to submit a WGS request as well as patient information and clinician guidance.

Patient information leaflets and record of discussion forms are now available in 10 languages;

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

Patient Choice

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.

For non-WGS tests you should continue to follow processes that are currently in place for test consent and initiation.