A recent publication in the British Journal of Haematology shares updated best practice consensus guidance for genetic testing in haematological malignancies. It covers both somatic and germline testing.
The guidance (opens in a new tab) particularly highlights the utility of distinguishing the role of inherited germline genetic variants from somatic variants, which can play a role in prognosis, disease management and inform appropriate donor selection where transplants are required.
The updated guidance follows a 2025 meeting that brought together Haematologists, Clinical Geneticists and representatives from NHS Genomic Medicine Service labs. Building on a previous gathering in 2022, the meeting aimed to:
- Standardise and improve care pathways with specific focus on TP53, DDX41, myeloproliferative neoplasm driver genes and Copy Number Variants/non-Single Nucleotide Variants.
- Improve identification of individuals with a germline genetic predisposition for the National Inherited Cancer Predisposition Register (NICPR).
We encourage clinicians specialising in haematological malignancies to familiarise themselves with the guidance, share with colleagues and provide feedback on their utility.
In total, the guidance includes 43 best practice consensus statements spanning areas such as MDT working and management of genetic variants, myeloproliferative neoplasms and the genes TP53 and DDX41.
The guidance has been produced by the UK Cancer Genetics Group (UKCGG), alongside CanGene-CanVar and the NHS England Haematological Oncology Working Group. Bev Speight, Principal Genetic Counsellor in the East Anglian Medical Genetics Service and co-authors of the recent publication led the meeting and would be interested in any feedback or suggestions for further work.
Find out more about ordering genetic tests for haematological malignancies from East Genomics.