The Patient - Patient-Centered Outcomes Research

Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients’ Perspectives on Influencing Factors and Strategies

Polygenic scores (PGS) capture a proportion of the genomic liability for cancer in unselected and high-risk cohorts, with meaningful application in improving risk-stratified screening and management. However, there are significant evidence gaps regarding future clinical implementation. Despite being key interest-holders, recipient views are underrepresented. The objective of this study was to explore recipients' views on the clinical implementation of PGS for hereditary cancer risk assessment in Australian cancer genetics clinics. Three video-conferenced focus groups were conducted with recipients who had been given their breast and ovarian cancer PGS through the PRiMo trial. Nominal Group Technique was used to enable evaluation of implementation determinants and strategies, and priority setting. Descriptive and deductive content analyses were conducted utilising the Consolidated Framework for Implementation Research and the Expert Recommendations for Implementing Change compilation of facilitative strategies. Participants (N = 10) were female, with an average age of 36 years (range 18-70 years). Of these, 50% (N = 5) experienced a change in their hereditary cancer risk assessment due to their PGS. Participants prioritised the positive value and impact of PGS, and the behavioural characteristics of recipients, notably their knowledge and expectations of PGS and cancer genetics clinics, as major determinants of implementation success. Implementation strategies that prepared and supported recipients to access, engage, and use PGS were emphasised, with a focus on a clear results report, educational resources, in-clinic resources, and delivery of ongoing good clinical follow-up. Evidence-based strategies should be deployed to address recipients' priority barriers to the clinical implementation of PGS for hereditary cancer risk assessment. Centralising recipient voices in implementation design will improve effectiveness and success.

Are Videos or Text Better for Describing Attributes in Stated-Preference Surveys?

In stated-preference research, the conventional approach to describing study attributes is through text, often with easy-to-understand graphics. More recently, researchers have begun to present attribute descriptions and content in videos. Some experts have expressed concern regarding internalization and retention of information conveyed via video. Our study aimed to compare respondents' understanding of attribute information provided via text versus video. Potential respondents were randomized to receive a text or video version of the survey. In the text version, all content was provided in text format along with still graphics. In the video version, text content was interspersed with four video clips, providing the same information as the text version. In both versions, 10 questions were embedded to assess respondents' understanding of the information presented relating to ovarian cancer treatments. Half of the questions were on treatment benefits and the other half were on treatment-related risks. Some questions asked about the decision context and definitions of treatment features, and others asked about the graphic presentation of treatment features. Preferences for ovarian cancer treatments were also compared between respondents receiving text versus video versions. Overall, 150 respondents were recruited. Of the 95 who were eligible and completed the survey, 54 respondents received the text version and 41 received the video version. Median times to completion were 24 and 30 min in the video and text arms, respectively (p < 0.01). Both groups spent an average of 35 min completing the survey. On the first comprehension question, 43% in the text arm and 61% in the video arm provided the correct response (p = 0.08). Although the mean number of correct responses was significantly higher in the video versus text arms (9.1 vs. 8.6, p = 0.02), there were no systematic differences in preferences between arms. The quality of stated-preference data relies on respondents' understanding of study content. Information provided via video may better engage survey participants and improve their retention of content.

A Systematic Review of Patient-Reported Measures for Individuals Who Underwent Genetic Testing for Heritable Cancer