Haematological malignancy

To request a whole genome sequencing test for rare disease, you will need to download and complete the Bristol Haemato-Oncolo Diagnostic Service (BHODS) form: Regional BHODS request form

Please also complete the NHS Genomic Medicine Service Record of Discussion form

You will need to send these to: SWGLHexports@nbt.nhs.uk

What additional forms are needed?

All published forms can be found directly on the NHS Genomic Medicine Service Resources website.

For example, these additional forms may be required for specific circumstances in the conversation process:

NHS Genomic Medicine Service young persons’ assent form

NHS Genomic Medicine Service genomic consultee declaration (adult requests only)

Below is the form for opt in and out to the National Genomic Research Library as part of the conversation process:

NHS Genomic Medicine Service participation in research form

Pathway guide for Haematological malignancy: HaemOnc Short Guide v1.4

The Bristol Haemato-Oncology Diagnostic Service provides an integrated diagnostic process for investigation and reporting blood, bone marrow, lymph node and other tissue samples investigated for the presence of haematological malignancy.

The service satisfies the NICE improving outcomes guidance published in 2004 as a Specialist Integrated Haematological Malignancy Diagnostic Service (SIHMDS). The service is collocated with the South West Genomic Laboratory Hub based at North Bristol NHS Trust.

The HEE resource for guidance on elements of the consent conversation can be found here:

HEE GEP Guide to requesting WGS test – RD

Clinical guidance document: Whole genome sequencing for Haemato-Oncology referrals: Haem WGS Guide v5

More education and resources

There are many excellent education packages to support your genomic learning journey at Genomics Educational Resources

For more targeted Genomics Education resources to support Whole Genome Sequencing test pathway 

All patient information leaflets for Whole Genome Sequencing can be found on NHS England National Genomic Services Resource pages and Genomics England Patients and Participants website pages

Direct links here:

Whole genome sequencing for suspected cancer:Information for patients and family members

Information about Whole genome sequencing fir if you think you have cancer – easy read

Genomics England Genomics Research and why it’s important

Eligibility criteria for genomic tests can be found in the <a href=”https://www.england.nhs.uk/publication/national-genomic-test-directories/”>National Genomic Test Directory.</a>

This lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing.

All  current versions of the resources associated with the request process are curated on <a title=”NHS England Genomics website” href=”https://www.england.nhs.uk/genomics/”>NHS England Genomic website</a> under the <a title=”NHS England Genomics Medicine Service Resource on website” href=”https://www.england.nhs.uk/genomics/genom-res/”>Genomics Resources tab</a>.

The NGTD indicates several possible alternative tests for some indications. Regional policy about the best test for each indication is being devised by the SWGLH and the haematological malignancy Cancer Alliance Advisory Groups (CAG)

All samples for genomic testing for haematological malignancy should be accompanied by a fully completed

Regional BHODS Request Form v3 (nbt.nhs.uk)

Please note, if the test you are requesting uses Whole Genome sequencing, you will need to use additional forms, these can be found in the WGS drop-down section at the top of the page, or in the related links section to your right.

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place before testing is requested.

It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing. In submitting a sample with a request form, the clinician confirms that informed consent has been obtained for (a) testing and storage (indefinitely) (b) the use of this sample and the information generated from it to be shared with members of the donor’s family and their health professionals (if appropriate). The patient should be advised that the samples may be used anonymously for quality assurance and training purposes.

If stated as a requirement for a specific test, a record of this discussion must be retained within the patient record when a genomic test is ordered.

For more information please view the Consent and Confidentiality in Genomic Medicine guidelines from the Joint Committee on Medical Genetics.

Where possible, samples for diagnostic or monitoring genomic tests should be collected alongside other samples for the regional Specialist Integrated Haematological Malignancy Service (SIHMDS).

• Please ensure that you verify the identity of the patient prior to taking the sample.
• Bone marrow aspirate is the preferred substrate for Haematological malignancy testing.
• Blood or other tissue may be suitable where sufficient (>20%) involvement is identified e.g. for acute leukaemia with a high circulating blast count. Pleural fluid or other tissue with a malignant infiltrate may also be suitable but should be discussed with the SWGLH, contact information below
• 1-2ml of bone marrow aspirate or 5-10ml of blood collected into EDTA is required for direct mutation, molecular monitoring or gene panel tests
• 1-2ml of bone marrow aspirate or 5-10ml of blood collected into lithium heparin or heparinised media is required for karyotype and FISH

• To maintain clinically useful test turnaround times, samples should be transported urgently to the SWGLH for processing and testing.
  • For samples requiring RNA analysis there is a 72 hour cut-off for receipt of samples as reliable quantitation is not possible from follow-up samples older than 72 hours. Samples received that are older than 72 hours will not be processed and a repeat sample will be requested.
• Samples will usually be sent internally to the local pathology specimen reception and, then onwards, to the SWGLH at the Bristol Genetics laboratory site, using the rapid transport routes that have been established from all SW Trusts.

For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website. 

Turnaround times (TATs) for genomic tests are continually refined through the ongoing review of testing standards by NHSE, the SWGLH and CAG working groups.

• As a guide, example current TATs are:
  • PML-RARA FISH <24 hours
  • BCR-ABL1 PCR, ALL FISH <3 days
  • Urgent karyotype/FISH <7 days
  • Urgent gene panel, direct mutation tests, CML monitoring <14 days
  • Routine karyotype, FISH, panel <21 days

Visit the results and turnaround page for more information.

Guidance for the Management of possible Germline Variants Identified During Routine Genomic Testing in Haematology can be found here: SWGLH Management of Possible Germline Variants Identified During Routine Genomic Testing in Haematology v2

Further information can be found on the Integrated Haematological Malignancy Diagnostics service site and for particular reference the back of the Bristol Haemato-Oncology Diagnostic Request Form:

A copy of the SWGLH Haematological malignancy – Clinical Guide can be downloaded here:

SWGLH Haem_Malignancy clinicains guide_vs 3.0