Evidence map›Paper›PMID 41773566›Full record

GuidelineBritish journal of haematology2026

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.

B Speight, A Hamblin, P Talley, O Tsoulaki, R Robinson, P Dean, J Khorashad, A Kulasekararaj, A L Godfrey, A J Mead and 3 more

Abstract readPractice GuidelineConsensus Statement
In one paragraph

Guideline in British journal of haematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

B SpeightEast Anglian Medical Genetics Service, Cambridge Biomedical Campus, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID https://orcid.org/0000-0001-5170-0929
A HamblinOxford University Hospitals NHS Foundation Trust & Central & South Genomic Laboratory Hub, Oxford, UK.
P TalleyHMDS, Leeds Teaching Hospitals Trust, St James's University Hospital, Leeds, UK.
O TsoulakiManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.
R RobinsonNorth East and Yorkshire Genomics Laboratory Hub, St James's University Hospital, Leeds, UK.
P DeanHMDS, Leeds Teaching Hospitals Trust, St James's University Hospital, Leeds, UK.
J KhorashadThe Royal Marsden NHS Foundation Trust, Sutton, UK.
A KulasekararajKing's College Hospital NHS Foundation Trust, London, UK.ORCID https://orcid.org/0000-0003-3180-3570
A L GodfreyHaematopathology & Oncology Diagnostics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.ORCID https://orcid.org/0000-0003-1955-9499
A J MeadMedical Research Council (MRC), Weatherall Institute of Molecular Medicine (WIMM) and NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
T P McVeighThe Royal Marsden NHS Foundation Trust, Sutton, UK.ORCID https://orcid.org/0000-0001-9201-9216
K SnapeKing's College Hospital NHS Foundation Trust, London, UK.
Consensus Meeting Attendees

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Genetic TestingGerm-Line MutationHematologic NeoplasmsEnglandGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansUnited Kingdombest practice guidelinesDDX41genetic testinghaematological malignanciesmyeloproliferative neoplasmsTP53

Identifiers

PMID41773566
PMCPMC13071493

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.