TY - JOUR
T1 - GUÍA
T2 - a digital platform to facilitate result disclosure in genetic counseling
AU - Suckiel, Sabrina A.
AU - Odgis, Jaqueline A.
AU - Gallagher, Katie M.
AU - Rodriguez, Jessica E.
AU - Watnick, Dana
AU - Bertier, Gabrielle
AU - Sebastin, Monisha
AU - Yelton, Nicole
AU - Maria, Estefany
AU - Lopez, Jessenia
AU - Ramos, Michelle
AU - Kelly, Nicole
AU - Teitelman, Nehama
AU - Beren, Faygel
AU - Kaszemacher, Tom
AU - Davis, Kojo
AU - Laguerre, Irma
AU - Richardson, Lynne D.
AU - Diaz, George A.
AU - Pearson, Nathaniel M.
AU - Ellis, Stephen B.
AU - Stolte, Christian
AU - Robinson, Mimsie
AU - Kovatch, Patricia
AU - Horowitz, Carol R.
AU - Gelb, Bruce D.
AU - Greally, John M.
AU - Bauman, Laurie J.
AU - Zinberg, Randi E.
AU - Abul-Husn, Noura S.
AU - Wasserstein, Melissa P.
AU - Kenny, Eimear E.
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/5
Y1 - 2021/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85100307655&partnerID=8YFLogxK
U2 - 10.1038/s41436-020-01063-z
DO - 10.1038/s41436-020-01063-z
M3 - Article
C2 - 33531665
AN - SCOPUS:85100307655
SN - 1098-3600
VL - 23
SP - 942
EP - 949
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 5
ER -