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Clinical Trial
. 2021 May;23(5):942-949.
doi: 10.1038/s41436-020-01063-z. Epub 2021 Feb 2.

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

Sabrina A Suckiel  1 , Jaqueline A Odgis  1 , Katie M Gallagher  2 , Jessica E Rodriguez  1 , Dana Watnick  3 , Gabrielle Bertier  1 , Monisha Sebastin  2 , Nicole Yelton  1 , Estefany Maria  2 , Jessenia Lopez  2 , Michelle Ramos  4   5 , Nicole Kelly  2 , Nehama Teitelman  3 , Faygel Beren  6 , Tom Kaszemacher  7 , Kojo Davis  4 , Irma Laguerre  8 , Lynne D Richardson  4   5   9 , George A Diaz  10   11 , Nathaniel M Pearson  6 , Stephen B Ellis  7 , Christian Stolte  6 , Mimsie Robinson  4 , Patricia Kovatch  10   12 , Carol R Horowitz  4   5 , Bruce D Gelb  10   11   13 , John M Greally  2 , Laurie J Bauman  3 , Randi E Zinberg  10   14 , Noura S Abul-Husn  1   10   15 , Melissa P Wasserstein  2 , Eimear E Kenny  16   17   18
Affiliations
Clinical Trial

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

Sabrina A Suckiel et al. Genet Med. 2021 May.

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.

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Conflict of interest statement

E.E.K. has received speaker honoraria from Regeneron Pharmaceuticals and Illumina. N.A.-.H. was previously employed by Regeneron Pharmaceuticals and has received a speaker honorarium from Genentech. R.E.Z. has received consulting fees from Sema4. The other authors declare no competing interests.

Figures

Fig. 1
Fig. 1. GUÍA development timeline.
GUÍA development occurred in five overlapping phases over a 16-month period. Development phases included a formative qualitative study of parents (N = 22) whose child had undergone genomic testing (phase 1), content development guided by an expert working group (phase 2), recurring feedback from stakeholders and community members (N = 11) (phase 3), design of the user interface (phase 4), and development and testing of the web application (phase 5).
Fig. 2
Fig. 2. Images of the GUÍA digital platform.
Images show the GUÍA Home page displayed in English only (a), the Result Summary page for a positive result displayed in Spanish/English (b), and the Family page for a positive result displayed in Spanish/English (c).
See this image and copyright information in PMC

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