Universal versus Guideline-Directed Germline Testing in Breast Cancer: Incremental Diagnostic Yield in a Predominantly Black Population.

The American Society of Breast Surgeons recommends germline testing for all patients with a personal history of breast cancer, citing concerns that guideline-based approaches may miss carriers. This single-center retrospective review included 170 patients from a community-based breast center (94.1% non-Hispanic Black); 147 were tested, with 6.1% pathogenic or likely pathogenic variants, 26.5% variants of uncertain significance and 67.4% negative tests. The large majority of patients (91.2%) met contemporaneous NCCN criteria, and the pathogenic variant rate was 6.0% in eligible versus 7.7% in non-eligible patients (p = 0.58). Universal testing identified one additional BRCA2 carrier outside NCCN criteria.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

With about nine carriers, the study lacks the power to conclude that the two strategies are equivalent: a 7.7% rate in non-eligible patients, comparable to that of eligible patients, is not reassuring on its own. The figure that weighs on the debate is the proportion of variants of uncertain significance (26.5%), a real cost of broader testing. The authors conclude that NCCN criteria provide comparable utility in resource-constrained settings, an argument that holds for this cohort rather than as a general rule.

Analysis by Dr Thibaut Benquey