Patient and providers’ perspectives on using the GUÍA digital tool to enhance genomic results disclosure

Le résumé fourni par la source

Purpose: Genomic testing is expanding, yet disparities persist in result disclosure, particularly among diverse and bilingual populations. The Genomic Understanding, Information, and Awareness (GUÍA) digital tool was developed to enhance genomic results communication for parents of children undergoing genomic testing. This study evaluates the effectiveness of GUÍA from both patient and provider perspectives. Methods: Participants were enrolled in the NYCKidSeq and TeleKidSeq studies, which randomized families to standard genetic counseling or GUÍA-assisted result disclosure. Surveys assessed parents' satisfaction with and perceived effectiveness of GUÍA, and their use of GUÍA after disclosure. Genetic counselors were surveyed on usability and integration into clinical workflows. Statistical analyses explored demographic and linguistic factors influencing perceived effectiveness. Results: Of 375 participants, 91% found the information provided by GUÍA "just right," 87% were very satisfied with materials, and 91% reported that GUÍA was helpful in explaining their child's results. GUÍA facilitated communication, with 37% using it to explain results to family and 34% to providers. Genetic counselors reported high usability and minimal burden. Spanish-speaking participants reported greater perceived effectiveness, highlighting its role in addressing linguistic barriers. Conclusion: GUÍA enhances genomic results communication, improves patient understanding, and supports equitable genetic counseling. Its structured, bilingual approach may serve as a scalable model for improving result disclosure in diverse populations.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.