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WGS can enable faster and more accurate diagnoses for patients and, in some cases, help identify more personalised treatments based on a person’s DNA.
It requires special considerations for discussion with patients and families and a specific WGS test request form and consent form (record of discussion). This page provides an overview of how to order WGS from the North Thames GLH.
Forms and resources required for delivery of WGS can be found here and more information can be found through the Health Education England’s Genomic Education programme.
If you have any WGS related questions please contact the GLH through the designated WGS email address firstname.lastname@example.org.
How to order Whole Genome Sequencing (WGS)
Check patient is eligible for WGS
Select clinical indication and check family structure using National Genomic Test Directory.
Please note: patients that have had WGS through the 100,000 Genomes Project are not eligible for WGS through the Genomic Medicine Service.
Conditions eligible for WGS
Core Conditions eligible for WGS Neurology Hereditary ataxia with onset in adulthood, Hereditary ataxia with onset in childhood, Adult onset dystonia, chorea or related movement disorder, Childhood onset dystonia, chorea or related movement disorder, Adult onset neurodegenerative disorder, Early on set or syndromic epilepsy, Adult onset hereditary spastic paraplegia, Childhood onset hereditary spastic paraplegia, Adult onset leukodystrophy, Hereditary neuropathy or pain disorder NOT PMP22 copy number, Arthrogryposis, Cerebellar anomalies, Holoprosenc ephaly - NOT chromosomal, Hydrocephalus, Cerebral malformation, Severe microcephaly, Childhood onset leukodystrophy, Other rare neuromuscular disorders Metabolic Likely inborn error of metabolism – where targeted testing not possible Musculoskeletal Rare syndromic craniosynostosis or isolated multisuture synostosis, Skeletal dysplasia Endocrinology Neonatal diabetes Immunology Primary Immunodeficiency Cardiology Paediatric or syndromic cardiomyopathy Renal Cystic renal, Unexplained paediatric onset end stage renal disease Eyes Bilateral congenital or childhood onset cataracts, Retinal disorders, Possible X - linked retinitis pigmentosa, Sorsby retinal dystrophy, Doyne retinal dystrophy, Structural eye disease Cancer MAKELIST
All paediatric (<25 years old) solid tumours
All paediatric (<25 years old) haematological malignancies
Sarcoma (excluding GIST)
Adult acute leukaemia
Triple negative breast cancer
High Grade Serous Ovarian
Adult Central Nervous System malignancies
Cancer of Unknown Primary
Solid Tumour and haematological malignancies where SOC testing and treatment has been exhausted
The process for genomic testing
Identify the appropriate test for your patient in the national genomic test directory.
The test chosen will define the test request form needed, sample requirements, the laboratory within the GLH who will complete the test, and expected turnaround times for the results.
It will also identify who can request the test and if patients should be referred to clinical genetics.
Ensure an appropriate consent conversation is held with the patient, and family where required. Complete record of discussion and test request form.
For WGS, you must ensure you have your patient’s consent for their genomic testing before you send the sample to the GLH for testing. The discussion with the patient must take place according to the Consent and Confidentiality in Genomic Medicine guidelines. Training has been developed to support the Patient Choice Consent Framework in WGS which is available online and more information can be found on our consent page.
Patient information leaflets (for cancer and rare disease tests) have been created for patients considering whole genome sequencing. These can be found here and should be given and/or discussed with the patient or their parent/carer.
Samples cannot be processed until the lab has all of the following forms correctly and fully completed:
Rare Disease Cancer Record of discussion form (rare disease) Record of discussion form (rare disease) Test order form (Rare diseases) Test order form (Cancer)
- Where appointments are conducted remotely, the record of discussion form can be completed virtually by following the Remote Patient Choice Policy.
- 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’. This form does not need to be completed if the consultee is only consenting to the clinical test.
- For rare diseases where you are collecting samples from a patient and family members, you will need to complete one Record of Discussion form for each family member.
The National Genomic Research Library
Any patient or family member who has WGS is given the opportunity to include their samples, genomic and health data to the National Genomic Research Library (NGRL). This library provides data and samples for research and participants may be re-contacted in the future where there are relevant research projects that may be of interest, or a new diagnosis is found. The patient’s choice whether to opt-in to the NGRL is documented on the Record of Discussion form. More information about the NGRL can be found here.
Collect the sample(s).
For WGS we require:
Rare Disease Cancer Germline sample Germline sample Tumour sample
Further guidance on sample requirements can be found in the National guidance and Standard Operating Procedures (SOPs).
If using stored DNA
Stored DNA samples are accepted for WGS, subject to quality checks, but please contact the laboratory on email@example.com to check that there is sufficient DNA.
Transportation of sample(s), test order form and record of discussion and request form to the North Thames GLH
Please note, we cannot submit samples for WGS until all required elements have been correctly submitted to the GLH.
Analysis and return of results conducted by North Thames GLH
The clinical report will be sent to the requesting NHS colleague by the appropriate lab within the hub.
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.
For Rare Disease WGS the North Thames Rare Disease Laboratory at GOSH will no longer routinely issue separate reports for the parents in trio/duo referrals where there is no primary finding in the proband. A report will be issued for the proband as usual. The laboratory will generate separate reports for parents where there is a finding in the proband that presents a significant recurrence risk to offspring or other family members.
Return of results
GLH Rare Diseases WGS PIS v2.1 – Pending update
GLH Cancer WGS PIS v2.1 – Pending update
GLH Sarcoma WGS PIS v2.1 – Pending update
Solid Tumour WGS Summary Sample Handling Guidance (GLH v…)
Haemato-Oncology WGS Summary Sample Handling Guidance (GLH v…)
Skin biopsy SOP
Remote Patient Choice Policy v2.0