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

Sabrina A. Suckiel, Jaqueline A. Odgis, Katie M. Gallagher, Jessica E. Rodriguez, Dana Watnick, Gabrielle Bertier, Monisha Sebastin, Nicole Yelton, Estefany Maria, Jessenia Lopez, Michelle Ramos, Nicole Kelly, Nehama Teitelman, Faygel Beren, Tom Kaszemacher, Kojo Davis, Irma Laguerre, Lynne D. Richardson, George A. Diaz, Nathaniel M. PearsonStephen B. Ellis, Christian Stolte, Mimsie Robinson, Patricia Kovatch, Carol R. Horowitz, Bruce D. Gelb, John M. Greally, Laurie J. Bauman, Randi E. Zinberg, Noura S. Abul-Husn, Melissa P. Wasserstein, Eimear E. Kenny

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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 GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families. Methods: GUÍA 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 GUÍA. Genetic specialists, researchers, patients, and community stakeholders provided their perspectives on GUÍA’s design to ensure technical, cultural, and literacy appropriateness. Results: NYCKidSeq participants responded positively to the use of GUÍA to deliver their children’s results. All participants (N = 10) with previous experience with genetic testing felt GUÍA improved result disclosure, and 17 (94%) participants said the content was clear. Conclusion: GUÍA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUÍA’s utility for families enrolled in the NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUÍA’s effectiveness in communicating results among diverse, multilingual populations.

Original languageEnglish (US)
Pages (from-to)942-949
Number of pages8
JournalGenetics in Medicine
Volume23
Issue number5
DOIs
StatePublished - May 2021

ASJC Scopus subject areas

  • Genetics(clinical)

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