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; Alison Morilla; Angela George; Paul Ryves; Pooja Dasani; Moses Adegoroye; Helene Schlecht; George J Burghel; Wendy Ornadel; Nicole Gordon; Lisa Steele; Susana Lukic; Emily Watts; D Gareth Evans; Ranjit Manchanda; Clare Turnbull

doi:10.1136/jmg-2024-110390

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
, Alison Morilla
, Angela George
, Paul Ryves
, Pooja Dasani
, Moses Adegoroye
, Helene Schlecht
, George J Burghel
, Wendy Ornadel
, Nicole Gordon
, Lisa Steele

Susana Lukic, Emily Watts, D Gareth Evans, Ranjit Manchanda, Clare Turnbull

The Institute of Cancer Research (University of London)
The Royal Marsden NHS Foundation Trust
Datar Cancer Genetics UK Private Limited
Great Ormond Street Hospital
Manchester University NHS Foundation Trust
Jnetics
Chai Cancer Care
NHS England
Queen Mary University of London

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	69-73
Number of pages	5
Journal	Journal of Medical Genetics
Volume	62
Issue number	2
Early online date	22 Dec 2024
DOIs	https://doi.org/10.1136/jmg-2024-110390
Publication status	Published - 27 Jan 2025

Keywords

Humans
Jews/genetics
Female
Genetic Testing/methods
Male
BRCA2 Protein/genetics
BRCA1 Protein/genetics
Adult
Germ-Line Mutation/genetics
Middle Aged
Genetic Predisposition to Disease
England/epidemiology
Breast Neoplasms/genetics
Genetic Counseling
Aged

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10.1136/jmg-2024-110390Licence: CC BY

Cite this

Torr, B., Bell, N., McCarthy, R., Hamill, M., Nolan, J., Muralidharan, S., Andrews, C., Valganon-Petrizan, M., Clinch, Y., MacMahon, S., Morilla, A., George, A., Ryves, P., Dasani, P., Adegoroye, M., Schlecht, H., Burghel, G. J., Ornadel, W., Gordon, N., ... Turnbull, C. (2025). The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024). Journal of Medical Genetics, 62(2), 69-73. https://doi.org/10.1136/jmg-2024-110390

@article{2fa5d28f5b3c4c988293a6989cfdf00e,

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

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 = "Humans, Jews/genetics, Female, Genetic Testing/methods, Male, BRCA2 Protein/genetics, BRCA1 Protein/genetics, Adult, Germ-Line Mutation/genetics, Middle Aged, Genetic Predisposition to Disease, England/epidemiology, Breast Neoplasms/genetics, Genetic Counseling, Aged",

author = "Bethany Torr and Nicola Bell and Ruth McCarthy and Monica Hamill and Joshua Nolan and Sudeekshna Muralidharan and Charlotte Andrews and Mikel Valganon-Petrizan and Yasmin Clinch and Suzanne MacMahon and Alison Morilla and Angela George and Paul Ryves and Pooja Dasani and Moses Adegoroye and Helene Schlecht and Burghel, \{George J\} and Wendy Ornadel and Nicole Gordon and Lisa Steele and Susana Lukic and Emily Watts and Evans, \{D Gareth\} and Ranjit Manchanda and Clare Turnbull",

note = "{\textcopyright} Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published by BMJ Group.",

year = "2025",

month = jan,

day = "27",

doi = "10.1136/jmg-2024-110390",

language = "English",

volume = "62",

pages = "69--73",

journal = "Journal of Medical Genetics",

issn = "1468-6244",

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Torr, B, Bell, N, McCarthy, R, Hamill, M, Nolan, J, Muralidharan, S, Andrews, C, Valganon-Petrizan, M, Clinch, Y, MacMahon, S, Morilla, A, George, A, Ryves, P, Dasani, P, Adegoroye, M, Schlecht, H, Burghel, GJ, Ornadel, W, Gordon, N, Steele, L, Lukic, S, Watts, E, Evans, DG, Manchanda, R & Turnbull, C 2025, 'The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024)', Journal of Medical Genetics, vol. 62, no. 2, pp. 69-73. https://doi.org/10.1136/jmg-2024-110390

TY - JOUR

T1 - The NHS England Jewish BRCA Testing Programme

T2 - overview after first year of implementation (2023-2024)

AU - Torr, Bethany

AU - Bell, Nicola

AU - McCarthy, Ruth

AU - Hamill, Monica

AU - Nolan, Joshua

AU - Muralidharan, Sudeekshna

AU - Andrews, Charlotte

AU - Valganon-Petrizan, Mikel

AU - Clinch, Yasmin

AU - MacMahon, Suzanne

AU - Morilla, Alison

AU - George, Angela

AU - Ryves, Paul

AU - Dasani, Pooja

AU - Adegoroye, Moses

AU - Schlecht, Helene

AU - Burghel, George J

AU - Ornadel, Wendy

AU - Gordon, Nicole

AU - Steele, Lisa

AU - Lukic, Susana

AU - Watts, Emily

AU - Evans, D Gareth

AU - Manchanda, Ranjit

AU - Turnbull, Clare

N1 - © Author(s) (or their employer(s)) 2025. Re-use permitted under CC BY. Published by BMJ Group.

PY - 2025/1/27

Y1 - 2025/1/27

N2 - 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.

AB - 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.

KW - Humans

KW - Jews/genetics

KW - Female

KW - Genetic Testing/methods

KW - Male

KW - BRCA2 Protein/genetics

KW - BRCA1 Protein/genetics

KW - Adult

KW - Germ-Line Mutation/genetics

KW - Middle Aged

KW - Genetic Predisposition to Disease

KW - England/epidemiology

KW - Breast Neoplasms/genetics

KW - Genetic Counseling

KW - Aged

U2 - 10.1136/jmg-2024-110390

DO - 10.1136/jmg-2024-110390

M3 - Article

C2 - 39715636

SN - 1468-6244

VL - 62

SP - 69

EP - 73

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 2

ER -

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

Abstract

Keywords

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