GUIA: a digital platform to facilitate result disclosure in genetic counseling

Purpose: Use of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUIA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families. Methods: GUIA development occurred in 5 phases: formative research, content development, user interface design, stakeholder/community member input, and web application development. Development was informed by qualitative research involving parents (N=22) whose children underwent genomic testing. Participants enrolled in the NYCKidSeq pilot study (N=18) completed structured feedback interviews post-result disclosure using GUIA. Genetic specialists, researchers, patients, and community stakeholders provided their perspectives on GUIA's design to ensure technical, cultural, and literacy appropriateness. Results: NYCKidSeq participants responded positively to the use of GUIA to deliver their children's results. All participants (N=10) with previous experience with genetic testing felt GUIA improved result disclosure, and 17 (94%) participants said the content was clear. Conclusions: GUIA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUIA's utility for families enrolled NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUIA's effectiveness in communicating results among diverse, multilingual populations.