Whole Genome Sequencing

Whole Genome Sequencing (WGS) is now available for certain rare disease, solid tumour and haematological malignancy indications listed in the National Genomic Test Directory.

Whole Genome Sequencing

Search the NHS test catalogue

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 gos-tr.wgsnorththamesglh@nhs.net.

How to order Whole Genome Sequencing (WGS)

  1. 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
    CoreConditions eligible for WGS
    NeurologyHereditary 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
    MetabolicLikely inborn error of metabolism – where targeted testing not possible
    MusculoskeletalRare syndromic craniosynostosis or isolated multisuture synostosis, Skeletal dysplasia
    EndocrinologyNeonatal diabetes
    ImmunologyPrimary Immunodeficiency
    CardiologyPaediatric or syndromic cardiomyopathy
    RenalCystic renal, Unexplained paediatric onset end stage renal disease
    EyesBilateral congenital or childhood onset cataracts, Retinal disorders, Possible X - linked retinitis pigmentosa, Sorsby retinal dystrophy, Doyne retinal dystrophy, Structural eye disease
    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

  1. 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.

  2. 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 DiseaseCancer
    Record of discussion form (rare disease)Record of discussion form (rare disease)
    Test order form (Rare diseases)Test order form (Cancer)
    Please note:
    • 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.

  3. Collect the sample(s).

    For WGS we require:

    Rare DiseaseCancer
    Germline sampleGermline 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 gos-tr.wgsnorththamesglh@nhs.net to check that there is sufficient DNA.

  4. 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.

  5. 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.

  6. Return of results

Solid Tumour WGS Summary Sample Handling Guidance (GLH v…)

Haemato-Oncology WGS Summary Sample Handling Guidance (GLH v…)

Skin biopsy SOP

Sample Handling Guidance for Whole Genome Sequencing of Germline Samples v1.0

Sample Handling Guidance for Whole Genome Sequencing of Haematological Malignancies v1.0

Sample Handling Guidance for Whole Genome Sequencing of Solid Tumour Samples v1.0

Remote Patient Choice Policy v2.0

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