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

ABSTRACT:

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 standardized approaches for score disclosure. Here, we review the landscape of polygenic score reporting and describe a generalizable approach for development of a polygenic score disclosure tool for coronary artery disease.

Methods

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 report for coronary artery disease. We then conducted a qualitative user-experience study

SUBMITTER: Brockman DG 

PROVIDER: S-EPMC8485114 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature