Somatic and germline genetic testing pathways in haematological malignancies: Best practice consensus guidelines from the 2025 national meeting organised by UK Cancer Genetics Group ( UKCGG ), CanGene ‐ CanVar and the NHS England Haematological Oncology Working Group

Journal article

Summary: Genomic technologies including next‐generation sequencing (NGS) and arrays for cytogenetic anomalies are now standard of care in England for the diagnostic evaluation of patients with suspected haematological malignancies. Challenges remain in the management of potential germline findings as a result of NGS panels and copy number variant analyses in haemato‐oncology pathways. The first national consensus meeting in April 2022 organised by the UK Cancer Genetics Group (UKCGGG), in collaboration with the CanGene‐CanVar research programme and the NHS England haemato‐oncology working group led to published best practice recommendations on laboratory and clinical pathways where there was potential to identify germline predisposition to haematological malignancies. On 3 and 4 April 2025, a second national meeting was held to address further challenges in these pathways and review updates in the national landscape subsequent to the 2022 recommendations. The meeting specifically focussed on TP53, DDX41, myeloproliferative neoplasm driver genes, non‐single nucleotide variation and identification of gene carriers for addition to the National Inherited Cancer Predisposition Register (NICPR) through the National Disease Registration Service (NDRS). Using the format of a pre‐workshop survey followed by structured discussion and in‐meeting polling, high‐level consensus was achieved for UK best practice across these areas.

Authors: Speight, B; Hamblin, A; Talley, P; Tsoulaki, O; Robinson, R

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Wiley
• Journal: British Journal of Haematology
• Publication date: 2026-03-03
• Acceptance date: 2026-02-13
• DOI: 10.1111/bjh.70404
• EISSN: 1365-2141
• ISSN: 0007-1048
• Language: English
• Keywords: haematological malignancies; DDX41; best practice guidelines; TP53; myeloproliferative neoplasms; genetic testing