Retrospective post-implementation evaluation of an eight-variant BRCA1/2 PCR panel using routine referral data and
Dmytro Nehrulia1, Dmytro Shapochka2, Tetiana Pokrovska3
1Department of Enzymology of protein synthesis, Institute of Molecular Biology and Genetics National Academy of Sciences of Ukraine, 150, Akademika Zabolotnoho Str., Kyiv, 03143, Ukraine; Medical Laboratory DILA, 31, Zhilyanska Str., Kyiv, 01033, Ukraine.
Introduction:
Commercial BRCA1/2 PCR panels interrogate few variants yet remain in use where comprehensive sequencing is constrained. Their yield depends on the targets chosen and the population tested.
Materials And Methods:
We retrospectively examined 3440 consecutively tested women who underwent a commercial eight-variant BRCA1/2 PCR panel between January 2022 and August 2025. Cases were assigned to three mutually exclusive categories of documented clinical or familial referral information, or to a cohort lacking it. Logistic regression assessed the association between documented referral information and a positive result, adjusting for age and referral source, and panel targets were compared with two Ukrainian NGS cohorts.
Results:
Reproducibly positive results for a target variant were obtained in 100 women (2.91%, 95% CI 2.40-3.52). Among 1172 cases with documented referral information, 78 had reproducibly positive results (6.66%, 95% CI 5.37-8.23), compared with 22 of 2268 without such documentation (0.97%, 95% CI 0.64-1.46), a crude rate ratio of 6.86 (95% CI 4.30-10.95, p < 0.001). Positivity was 15.45%, 11.94% and 3.73% under criteria 1, 2 and 3 respectively. Adjustment for age and referral source did not materially attenuate the association (adjusted odds ratio 7.35, 95% CI 4.55-11.87). In BRCA1/2-positive NGS cases, the variant matched a predefined PCR target in 49.1% (95% CI 42.4-55.7) and 50.0% (95% CI 41.9-58.1), respectively; these proportions describe target overlap rather than clinical sensitivity.
Discussion:
Positivity was markedly higher where referrals carried documented information. The findings support standardised documentation of clinical and familial information on referrals and periodic reassessment of panel targets.
