Evidence is accumulating of the clinical utility of single nucleotide polymorphisms to effectively stratify risk of breast cancer. Yet for this personalized polygenic information to be translated to clinical practice, consideration is needed about how this personalized risk information should be communicated and the impact on risk perception. This study examined the psychosocial implications and the impact on risk perception of communicating personalized polygenic breast cancer risk to high-risk women. High-risk women with a personal history of breast cancer and an uninformative BRCA1/2 result were genotyped in the Variants in Practice study for 22 breast cancer single nucleotide polymorphisms. Participants in the highest quartile of polygenic breast cancer risk were invited to receive their individual research results. Two personalized visual risk communication tools were used to facilitate communication of the polygenic information. Participants subsequently undertook a semi-structured interview examining their experience of receiving their polygenic breast cancer risk and their breast cancer risk perception. Thirty-nine women opted to receive their results and were interviewed. The women described the risk communication tools as helpful as the tool enabled comparison of their personalized breast cancer risk to the general population. Participants incorporated the polygenic risk information into their breast cancer risk perception, which for some reawakened feelings of being at risk years after an uninformative BRCA1/2 result. However, few reported any detrimental emotional impact. The delivery of personalized polygenic breast cancer risk to high-risk women informed and modified their breast cancer risk perception with little emotional impact.
J Community Genet
Breast cancer risk, Polygenic risk, Psychosocial, Risk perception, Single nucleotide polymorphism