High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information

Abstract

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.

Uptake of polygenic risk information among women at increased risk of breast cancer

“…Additional genotyping of 62 breast-cancer-associated SNPs was conducted through the ViP study, from which an individual PRS and relative risk (RR) for breast cancer were generated. 24 Additional eligibility criteria for this study included: women aged ≥18 years who had received uninformative genetic testing results of high-and moderate-risk breast cancer genes. No exclusions were made based on personal history of breast cancer.…”

The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

“…There is more to the development of disease than genetics alone, with lifestyle factors also having significant influence on risk. Several studies have found that regardless of risk perception, being given a personal polygenic risk score for risk of breast or prostate cancer did not have an impact on emotional state …”

“…It is important to be attentive to emotions and consider genetic risk discussions as a two‐way conversation rather than one‐sided information giving . Clinicians should be mindful that a person's life experience will influence their interpretation of risk, and research has shown that people do not change these risk perceptions when provided with new risk information; it may have some impact, but life experience plays the larger role . Patients with cancer often have theories about why they were diagnosed and wonder about the impact of lifestyle factors.…”

“…Several studies have found that regardless of risk perception, being given a personal polygenic risk score for risk of breast or prostate cancer did not have an impact on emotional state. 22,23 7 | PHARMACOGENOMICS Genomics has potential to personalise prescribing through use of pharmacogenomics. Drug treatments have various effects in different people; for example, with drugs like statins or antihypertensives, it is often trial and error between the general practitioner (GP) and patient to work out, which medication works for the individual and at what dose.…”

“…33 Clinicians should be mindful that a person's life experience will influence their interpretation of risk, and research has shown that people do not change these risk perceptions when provided with new risk information; it may have some impact, but life experience plays the larger role. 22,23 Patients with cancer often have theories about why they were diagnosed and wonder about the impact of lifestyle factors. The challenge is to explore these issues to enable informed decisions without overloading with excessively complex information.…”