Evidence map›Paper›PMID 39715636›Full record

ArticleJournal of medical genetics2025

The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).

Bethany Torr, Nicola Bell, Ruth McCarthy, Monica Hamill, Joshua Nolan, Sudeekshna Muralidharan, Charlotte Andrews, Mikel Valganon-Petrizan, Yasmin Clinch, Suzanne MacMahon and 15 more

Abstract read
In one paragraph

Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–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

6 citing papers in PubMed.

  1. Trial
  2. Comparative Analysis ofJCO precision oncology · 2026
    Article
  3. Review
  4. Review
  5. Nanocarrier drug delivery systems for gynecological cancer therapeutics.Journal of controlled release : official journal of the Controlled Release Society · 2025
    Review
  6. Observational
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

25 authors.

Bethany TorrDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.ORCID 0000-0003-3487-9749
Nicola BellDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Ruth McCarthyDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Monica HamillDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Joshua NolanDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Sudeekshna MuralidharanDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Charlotte AndrewsDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Mikel Valganon-PetrizanNorth Thames Genomics Laboratory Hub, The Royal Marsden NHS Foundation Trust, London, UK.
Yasmin ClinchNorth Thames Genomics Laboratory Hub, The Royal Marsden NHS Foundation Trust, London, UK.
Suzanne MacMahonNorth Thames Genomics Laboratory Hub, The Royal Marsden NHS Foundation Trust, London, UK.
Alison MorillaNorth Thames Genomics Laboratory Hub, The Royal Marsden NHS Foundation Trust, London, UK.
Angela GeorgeCancer Genetics, The Royal Marsden NHS Foundation Trust, London, UK.
Paul RyvesNorth Thames Genomics Medicine Service Alliance, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Pooja DasaniNorth Thames Genomics Medicine Service Alliance, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Moses AdegoroyeNorth Thames Genomics Medicine Service Alliance, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Helene SchlechtNorth West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, UK.
George J BurghelNorth West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, Manchester, UK.ORCID 0000-0001-9360-8194
Wendy OrnadelJnetics, London, UK.
Nicole GordonJnetics, London, UK.
Lisa SteeleChai Cancer Care, London, UK.
Susana LukicCancer Programme, NHS England, London, UK.
Emily WattsCancer Programme, NHS England, London, UK.
D Gareth EvansDivision of Evolution, Infection, and Genomic Sciences, The University of Manchester, Manchester, UK.ORCID 0000-0002-8482-5784
Ranjit ManchandaWolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.ORCID 0000-0003-3381-5057
Clare TurnbullDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK turnbull.lab@icr.ac.uk.ORCID 0000-0002-3797-7398

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe NHS Jewish BRCA Testing Programme is offering germline

methodsWe reviewed data from germline testing of 5389 people who registered during the soft-launch phase (January 2023-January 2024) and their families to observe trends in uptake and outcomes of testing.

resultsOf the 5389 self-referrals, 4339 (80.5%) consented to testing. Of those with results returned, 2.3% (98/4,274) had a gPV (89.8% AJ founder and 10.2% non-AJ founder).Notably, the detection rate was higher in men (42/790, 5.3%) compared with women (56/3484, 1.6%), with the proportion reporting known BRCA variants within the family prior to consent also significantly increased (13.1% compared with 9.2%, respectively).

conclusionOverall detection rates of gPVs are similar to those reported elsewhere from Jewish population testing. The pathway, particularly for males, may attract uptake of testing by those previously aware of familial gPVs.

Indexed as

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsGenetic TestingJewsAdultEnglandFemaleGenetic CounselingGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedOvarian NeoplasmsState MedicineBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanGenetics, PopulationGenetic TestingPolicyPublic Health

Identifiers

PMID39715636
PMCPMC11877082

What OpenQuestion holds

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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.