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 -