Clinicians often support women with BRCA1/2 pathogenic variants through challenging decisions regarding risk-reducing mastectomy. Recently, researchers investigated how Breast Cancer PRS disclosure affects decisional conflict in this high-risk population. The findings suggest that providing individualized polygenic risk estimates can significantly alleviate the burden of complex medical choices.

The Clinical Impact of Breast Cancer PRS Disclosure on Decision-Making

The study followed 354 unaffected women over six months to assess changes in their decision-making process. Initially, many participants experienced high levels of conflict before receiving their polygenic risk scores. However, after the disclosure of PRS-informed results, decisional conflict scores decreased significantly. Consequently, this indicates that personalized risk data may provide a clearer path for patients considering surgery.

Moreover, the research highlighted that a patient's psychological profile influences their immediate reaction. For instance, women with a low tolerance for ambiguity felt more conflict when faced with high-risk estimates. Conversely, those with a higher tolerance navigated the new information with less distress. Therefore, clinicians should tailor their communication to match the patient’s psychological characteristics and numeracy skills.

Furthermore, the timing of the assessment proved important. While 10-year risk estimates caused short-term uncertainty, lifetime risk estimates did not independently predict conflict. In addition, family history and age did not significantly moderate the PRS effects. These results emphasize the personal utility of genetic counseling that integrates polygenic data alongside monogenic results.

FAQs

How does Breast Cancer PRS disclosure reduce decisional conflict?

It provides more individualized absolute risk estimates. This helps patients move from general high-risk categories to specific, data-backed probabilities, fostering a sense of informed choice.

Does a high PRS always lead to more stress?

Not necessarily. While higher 10-year risk estimates can increase conflict immediately after disclosure, the study found that the long-term impact is a general reduction in decisional conflict across the cohort.

Who benefits most from polygenic risk scoring?

Women with BRCA1/2 variants benefit because the scores refine their baseline risk. However, the study shows that communication must be tailored for those with a low tolerance for ambiguity to prevent temporary increases in distress.

Disclaimer: This content is for informational and educational purposes only. It does not constitute professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Refer to the latest local and national guidelines for clinical practice.

References

Ongaro G et al. The Impact of Breast Cancer Polygenic Risk Score Disclosure on Decisional Conflict Around Risk-Reducing Mastectomy in Women with Pathogenic BRCA1/2 Variants. Genet Med. 2026 May 20. doi: undefined. PMID: 42165229.