Patient and providers' perspectives on using the GUIA digital tool to enhance genomic results disclosure.

ABSTRACT:

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 workflow

SUBMITTER: Odgis JA 

PROVIDER: S-EPMC12508862 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature