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Design and user experience testing of a polygenic score report: a qualitative study of prospective users

By Deanna G Brockman, Lia Petronio, Jacqueline S. Dron, Bum Chul Kwon, Trish Vosburg, Lisa Nip, Andrew Tang, Mary O'Reilly, Niall Lennon, Bang Wong, Kenney Ng, Katherine H Huang, Akl C. Fahed, Amit V. Khera

Posted 20 Apr 2021
medRxiv DOI: 10.1101/2021.04.14.21255397

Background: Polygenic scores - which quantify inherited risk by integrating information from many common sites of DNA variation - may enable a tailored approach to clinical medicine. However, alongside considerable enthusiasm, we and others have highlighted a lack of systematic approaches for score disclosure. Here, we review the landscape of polygenic score reporting and describe a generalizable approach for development of polygenic score disclosure tools for coronary artery disease. Methods: First, we assembled a working group of clinicians, geneticists, data visualization specialists, and software developers. The group reviewed existing polygenic score reports and then designed a two-page mock polygenic score report for coronary artery disease. We then conducted a qualitative user-experience study with this report and an interview guide focused on comprehension, experience, and attitudes. Interviews were transcribed and thematically analyzed for themes identification. Results: We conducted interviews with ten adult individuals (50% females, 70% without prior genetic testing experience, age range 20 to 70 years) recruited via an online platform. We identified three themes from interviews: (1) visual elements, such as color and simple graphics, enable participants to interpret, relate to, and contextualize their polygenic score, (2) word-based descriptions of risk and polygenic scores presented as percentiles were most often recognized and understood, (3) participants had varying levels of interest in understanding complex genomic information and therefore would benefit from additional resources that can adapt to their individual needs in real time. In response to user feedback, colors used for communicating risk were modified to minimize unintended color associations and odds ratios were removed. Of note, all 10 participants expressed interest in receiving this report based on their personal genomic information. Conclusions: Our findings describe a generalizable approach to develop and test a polygenic score disclosure tool that is desired by the general public. These results are likely to inform ongoing efforts related to polygenic score disclosure within clinical practice.

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