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. 2025 Jan 27;62(2):69-73.
doi: 10.1136/jmg-2024-110390.

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

Bethany Torr  1   2 , Nicola Bell  1   2 , Ruth McCarthy  1   2 , Monica Hamill  1   2 , Joshua Nolan  1   2 , Sudeekshna Muralidharan  1   2 , Charlotte Andrews  1   2 , Mikel Valganon-Petrizan  3 , Yasmin Clinch  3 , Suzanne MacMahon  3 , Alison Morilla  3 , Angela George  2   4 , Paul Ryves  4 , Pooja Dasani  4 , Moses Adegoroye  4 , Helene Schlecht  5 , George J Burghel  5   6 , Wendy Ornadel  7 , Nicole Gordon  7 , Lisa Steele  8 , Susana Lukic  9 , Emily Watts  9 , D Gareth Evans  6   10 , Ranjit Manchanda  11   12 , Clare Turnbull  13   2
Affiliations

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

Bethany Torr et al. J Med Genet. .

Abstract

Background: The NHS Jewish BRCA Testing Programme is offering germline BRCA1 and BRCA2 genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi Jewish (AJ) founder germline pathogenic variant (gPV) compared with the general population.Testing is offered via a self-referral, home-based saliva sampling pathway, supported by a genetic counsellor telephone helpline. A first-of-its-kind in the United Kingdom (UK) for population genetic testing, outside of research.

Methods: We 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.

Results: Of 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).

Conclusion: Overall 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.

Keywords: Genetic Testing; Genetics, Population; Policy; Public Health.

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Conflict of interest statement

Competing interests: RM declares research funding from Yorkshire Cancer Research into population testing, and funding from Barts Charity, Rosetrees Trust and GSK outside this work; an honorarium for grant review from Israel National Institute for Health Policy Research and honorarium for advisory board membership from AstraZeneca/MSD/GSK/EGL. RM has been supported by an NHS Innovation Accelerator (NIA) Fellowship for population testing and received funding for the GCaPPS study from the Eve Appeal. RM is the Topic Advisor for the NICE Guideline, Ovarian cancer: identifying and managing familial and genetic risk. CT has previously received honoraria for scientific research committee membership from Roche and educational activities from Astra Zeneca (donated in full to charity).

Figures

Figure 1
Figure 1. Participant progression during the Jewish BRCA Testing Programme soft-launch phase (31 January 2023 to 31 January 2024, inclusive).
See this image and copyright information in PMC

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