Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: ‘Another piece of the pie’

Willis, Amanda; Smith, Sian K; Meiser, Bettina; James, Paul; Ballinger, Mandy L.; Thomas, David M.; Yanes, Tatiane; Young, Mary‐Anne

doi:10.1002/jgc4.1384

Cited by 14 publications

(10 citation statements)

References 44 publications

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“…This is supported by our results which showed that those with an affected first-degree relative were more likely to believe they were at risk of developing glaucoma. Previous studies have shown that risk perception is often influenced by lived experience 32 – 36 and that PRS may not alter perceived risk in these cases. 32 Interestingly, in this study, individuals with an affected first-degree relative were not more likely to change the current frequency of eye examinations, regardless of whether a test indicated they were at either low or high risk.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies have shown that risk perception is often influenced by lived experience 32 – 36 and that PRS may not alter perceived risk in these cases. 32 Interestingly, in this study, individuals with an affected first-degree relative were not more likely to change the current frequency of eye examinations, regardless of whether a test indicated they were at either low or high risk. However, this cohort was also the one reporting the highest frequency of eye examination and may therefore feel that additional testing is not necessary.…”

Section: Discussionmentioning

confidence: 99%

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Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Hollitt

Siggs

Ridge

et al. 2022

Trans. Vis. Sci. Tech.

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Purpose Integrating polygenic risk scores (PRS) into healthcare has the potential to stratify an individual's risk of glaucoma across a broad population. Glaucoma is the most common cause of irreversible blindness worldwide, therefore effective screening for glaucoma endorsed by the population is highly important. This study assessed the attitude of unaffected individuals toward PRS testing for glaucoma, and sought to identify factors associated with interest in testing. Methods We surveyed 418 unaffected individuals including 193 with a first-degree relative with glaucoma, 117 who had a recent eye examination, and 108 general members of the community. Results Overall, 71.3% of the individuals indicated an interest in taking a polygenic risk test for glaucoma. Interest was more likely in those who believed glaucoma to be a severe medical condition (odds ratio [OR] = 14.58, 95% confidence interval [CI] = 1.15–185.50, P = 0.039), those concerned about developing glaucoma (OR = 4.37, 95% CI = 2.32–8.25, P < 0.001), those with an intention to take appropriate measures regarding eye health (OR = 2.39, 95% CI = 1.16–4.95, P = 0.019), and those preferring to know if considered to be at-risk or not (OR = 4.52, 95% CI = 2.32–8.83, P < 0.001). Conclusions Our results show strong interest in genetic risk assessment for glaucoma among unaffected individuals in Australia. Translational Relevance These findings represent a valuable assessment of interest in glaucoma polygenic risk testing among potential target populations, which will be integral to the implementation and uptake of novel PRS-based tests into clinical practice.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Hollitt

Siggs

Ridge

et al. 2022

Trans. Vis. Sci. Tech.

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“…It is possible that the negative reactions our research showed were mitigated in other studies by the involement of a healthcare provider in pre-test or post-test counseling. Additionally, prior studies provided targeted PRSs to individuals with a personal or family history of cancer (16)(17)(18)(19)(20)(21) or bipolar disorder (22). It is possible that having a family history may lead to an overestimation of perceived genetic risk, reducing the burden of a PRS.…”

Section: Discussionmentioning

confidence: 99%

“…Adverse reactions and decisional regret have been reported among people who have self-initiated non-PRS related DTC-GT (13)(14)(15). To date, PRS research has mainly focused on contexts where PRSs are provided to individuals with a personal or family history of cancer (16)(17)(18)(19)(20)(21) or bipolar disorder (22). When provided in these settings, PRSs have served as an explanation for people's personal or family history and reduce feelings of self-blame.…”

Section: Introductionmentioning

confidence: 99%

A Qualitative Study Exploring the Consumer Experience of Receiving Self-Initiated Polygenic Risk Scores from a Third-Party Website

Lowes

Borle

Folkersen³

et al. 2022

Preprint

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The number of people accessing their own polygenic risk scores (PRSs) online is rapidly increasing, yet little is known about why people are doing this, how they react to the information, and what they do with it. We conducted a qualitative interview-based study with people who pursued PRSs through Impute.me, to explore their motivations for seeking PRS information, their emotional reactions, and actions taken in response to their results. Using interpretive description, we developed a theoretical model describing the experience of receiving PRSs in a direct-to-consumer (DTC) context. Dissatisfaction with healthcare was an important motivator for seeking PRS information. Participants described having medical concerns dismissed, and experiencing medical distrust, which drove them to self-advocate for their health, which in turn ultimately led them to seek PRSs. Polygenic risk scores were often empowering for participants, but could be distressing when PRS information did not align with participants’ perceptions of their personal or family histories. Behavioural changes made in response to PRS results included dietary modifications, changes in vitamin supplementation and talk-based therapy. Our data provides the first qualitative insight into how people’s lived experience influence their interactions with DTC PRSs.

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“…The lived experiences of many women with a family history of breast cancer are a primary source of knowledge on how to live with cancer and cancer risk, and greatly influence perceptions of cancer risk and risk management [ 11 , 12 , 13 , 14 , 15 ]. An elevated perception of risk may negatively impact some women leading them to adopt inappropriate risk management strategies [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study

Forrest

Shepherd

Tutty

et al. 2022

JPM

Self Cite

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Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic information. The psychosocial and clinical outcomes for women who have received this ‘genome-first care’ delivering hereditary breast and ovarian cancer risk information outside of clinical genetics services are unknown. Methods: An exploratory sequential mixed-methods case-control study compared outcomes between women who did (cases; group 1) and did not (controls; group 2) receive clinically actionable genetic information from a research cohort in Victoria, Australia. Participants completed an online survey examining cancer risk perception and worry, and group 1 also completed distress and adaptation measures. Group 1 participants subsequently completed a semi structured interview. Results: Forty-five participants (group 1) and 96 (group 2) completed the online survey, and 31 group 1 participants were interviewed. There were no demographic differences between groups 1 and 2, although more of group 1 participants had children (p = 0.03). Group 1 reported significantly higher breast cancer risk perception (p < 0.001) compared to group 2, and higher cancer worry than group 2 (p < 0.001). Some group 1 participants described how receiving their genetic information heightened their cancer risk perception and exacerbated their cancer worry while waiting for risk-reducing surgery. Group 1 participants reported a MICRA mean score of 27.4 (SD 11.8, range 9–56; possible range 0–95), and an adaptation score of 2.9 (SD = 1.1). Conclusion: There were no adverse psychological outcomes amongst women who received clinically actionable germline information through a model of ‘genome-first’ care compared to those who did not. These findings support the return of clinically actionable research results to research participants.

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Influence of lived experience on risk perception among women who received a breast cancer polygenic risk score: ‘Another piece of the pie’

Cited by 14 publications

References 44 publications

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

A Qualitative Study Exploring the Consumer Experience of Receiving Self-Initiated Polygenic Risk Scores from a Third-Party Website

The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study

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