英国国家医疗服务体系（NHS）英格兰犹太裔BRCA检测项目：实施第一年（2023 - 2024年）后的概述

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

作者信息

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

机构信息

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

Cancer Genetics, The Royal Marsden NHS Foundation Trust, London, UK.

出版信息

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

DOI:10.1136/jmg-2024-110390

PMID:39715636

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11877082/

Abstract

BACKGROUND

The NHS Jewish BRCA Testing Programme is offering germline and 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.

摘要

背景

英国国民医疗服务体系（NHS）犹太裔BRCA检测项目为至少有一位犹太裔祖父母的人群提供种系和基因检测。与普通人群相比，这些人携带阿什肯纳兹犹太（AJ）始祖种系致病变异（gPV）的可能性更高。检测通过自我转诊、居家唾液采样途径进行，并由遗传咨询师电话热线提供支持。这是英国首个针对非研究目的的人群基因检测项目。

方法

我们回顾了在软启动阶段（2023年1月至2024年1月）登记的5389人及其家族的种系检测数据，以观察检测的接受情况和结果趋势。

结果

在5389例自我转诊者中，4339例（80.5%）同意进行检测。在收到检测结果的人中，2.3%（98/4274）携带gPV（89.8%为AJ始祖变异，10.2%为非AJ始祖变异）。值得注意的是，男性的检测率（42/790，5.3%）高于女性（56/3484，1.6%），在同意检测之前报告家族中已知BRCA变异的比例也显著增加（分别为13.1%和9.2%）。