Decision regret following rapid genetic testing at the time of breast cancer diagnosis

Rapid genetic testing of nine predisposition genes at the time of breast cancer diagnosis

Genetic testing is increasingly offered at breast cancer diagnosis to guide treatment decisions; this Canadian study measures decision regret one year after rapid testing of nine predisposition genes (BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53, ATM, CHEK2). The 871 participants (mean age 46.0 years; 59.9% White) completed questionnaires before testing and at 1 week and 1 year. A pathogenic variant was found in 83 women (9.5%). At one year, 802 women (92.1%) reported no regret and 69 (7.9%) reported regret. Women from racialised groups were more likely to regret their decision than White women (13.4% vs 4.4%), as were carriers of a BRCA1 or BRCA2 pathogenic variant compared with women with a negative result.

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

The main message is reassuring for testing at diagnosis: more than nine in ten women do not regret their decision a year later. The two at-risk subgroups, BRCA1/2 carriers and racialised women, indicate where to target post-test follow-up, although the study does not show whether enhanced counselling reduces regret. Regret measures the testing experience, not its clinical benefit.

Analysis by Dr Thibaut Benquey