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 five overlapping phases: formative research, content development, stakeholder/community member input, user interface design, and web application development. Development was informed by formative 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. Conclusion GUiA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUiA's utility for families enrolled in the NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUiA's effectiveness in communicating results among diverse, multilingual populations.

Automated summary

Genomic sequencing is increasingly used to meet the needs of a growing patient population, and GUiA, a web-based application, was developed to effectively deliver genomic results and clinical information. Feedback from NYCKidSeq participants showed positive responses to GUiA, suggesting its utility in communicating complex genomic information effectively among diverse populations.