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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
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The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).

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|December 23, 2024
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Summary

The NHS Jewish BRCA Testing Programme offers germline BRCA1 and BRCA2 genetic testing to individuals with Ashkenazi Jewish heritage. The program identified pathogenic variants in 2.3% of testers, with higher rates in men.

Keywords:
Genetic TestingGenetics, PopulationPolicyPublic Health

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Area of Science:

  • Genetics
  • Population Health
  • Genetic Screening

Background:

  • The NHS Jewish BRCA Testing Programme provides germline BRCA1 and BRCA2 genetic testing to individuals with at least one Jewish grandparent.
  • This initiative targets individuals with an elevated risk of Ashkenazi Jewish founder germline pathogenic variants (gPVs).
  • Testing is accessible through a self-referral, home-based saliva kit, supported by genetic counseling.

Purpose of the Study:

  • To evaluate the uptake and outcomes of germline BRCA1 and BRCA2 genetic testing within the NHS Jewish BRCA Testing Programme.
  • To identify trends in testing participation and the detection rates of pathogenic variants.

Main Methods:

  • Data from 5389 individuals who registered for the program during its soft-launch phase (January 2023-January 2024) were analyzed.
  • The study reviewed testing consent rates, results, and demographic data, including family history of BRCA variants.

Main Results:

  • 80.5% of registrants (4339/5389) consented to testing.
  • A pathogenic variant was detected in 2.3% (98/4,274) of individuals tested, predominantly of Ashkenazi Jewish founder origin (89.8%).
  • The detection rate was significantly higher in men (5.3%) compared to women (1.6%), with a higher proportion of men reporting known family BRCA variants.

Conclusions:

  • Germline pathogenic variant detection rates are comparable to other studies of Jewish population testing.
  • The self-referral pathway, particularly for males, may increase testing uptake among individuals aware of familial BRCA variants.