2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations

GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations

Pdf Summary

The study discusses the effectiveness of the GUÍA (Genomic Understanding, Information, and Awareness) application in facilitating the communication of genomic results to diverse, bilingual populations. Digital technologies have been used in genetic counseling for pedigree construction and genetic risk assessments but there are few applications designed for result disclosure. This study aimed to explore the utility of the GUÍA platform in facilitating result disclosure among families and genetic counselors.<br /><br />The study involved genomic sequencing for children with neurologic, cardiac, or immunologic phenotypes suspected to have a genetic origin. Genetic counselors used GUÍA during result disclosure for 385 families, mainly through telehealth. Surveys were conducted with parents/guardians to evaluate the effectiveness of GUÍA post-results disclosure and 6 months later. Genetic counselors also evaluated GUÍA via surveys after each result disclosure.<br /><br />The findings showed that GUÍA was easy to prepare, did not add too much time compared to standard care, and was easy to use during the session according to genetic counselors. Participants also reported high satisfaction rates with the use of GUÍA during result disclosure and indicated that they would not change how the results were communicated. A significant number of participants used a printout of GUÍA to share results with their family and healthcare providers.<br /><br />The study concludes that GUÍA is an acceptable and useful tool for disclosing results to diverse, bilingual populations. Genetic counselors found GUÍA helpful without hindering their workflow, supporting its utility in genetic counseling for English- or Spanish-speaking patients with diverse backgrounds. Future research is needed to investigate the broader utility of GUÍA in different clinical contexts.<br /><br />For more information on GUÍA, readers are directed to visit www.guiagenomics.com and refer to the related publication by Suckiel et al. in Genetics in Medicine.

Asset Subtitle

Presenting Author - Priya N. Marathe, MS; Co-Author - Sabrina A. Suckiel, MS, CGC; Co-Author - Jacqueline A. Odgis, MS CGC; Co-Author - Katie M. Gallagher, MS CGC; Co-Author - Monisha Sebastin, CGC; Co-Author - Katherine E. Bonini, MS, CGC; Co-Author - Kaitlyn Brown, MS; Co-Author - Miranda Di Biase, MS, CGC; Co-Author - Nicole R. Kelly, MPH; Co-Author - Michelle A. Ramos, MPH; Co-Author - Jessica E. Rodriguez, BS; Co-Author - Laura Scarimbolo, MPH; Co-Author - Beverly J. Insel, PhD; Co-Author - Randi E. Zinberg, MS CGC; Co-Author - George A. Diaz, MD, PhD; Co-Author - John M. Greally, DMed PhD; Co-Author - Noura S. Abul-Husn, MD, PhD, FACMG; Co-Author - Laurie J. Bauman, PhD; Co-Author - Carol R. Horowitz, MD; Co-Author - Bruce D. Gelb, MD; Co-Author - Melissa P. Wasserstein, MD; Co-Author - Eimear E. Kenny;

Meta Tag

Counseling

Education

Genetic Testing

Genome sequencing

Co-Author Sabrina A. Suckiel, MS, CGC

Co-Author Jacqueline A. Odgis, MS CGC

Co-Author Katie M. Gallagher, MS CGC

Co-Author Monisha Sebastin, CGC

Co-Author Katherine E. Bonini, MS, CGC

Co-Author Kaitlyn Brown, MS

Co-Author Miranda Di Biase, MS, CGC

Co-Author Nicole R. Kelly, MPH

Co-Author Michelle A. Ramos, MPH

Co-Author Jessica E. Rodriguez, BS

Co-Author Laura Scarimbolo, MPH

Co-Author Beverly J. Insel, PhD

Co-Author Randi E. Zinberg, MS CGC

Co-Author George A. Diaz, MD, PhD

Co-Author John M. Greally, DMed PhD

Co-Author Noura S. Abul-Husn, MD, PhD, FACMG

Co-Author Laurie J. Bauman, PhD

Co-Author Carol R. Horowitz, MD

Co-Author Bruce D. Gelb, MD

Co-Author Melissa P. Wasserstein, MD

Co-Author Eimear E. Kenny

Presenting Author Priya N. Marathe, MS

Keywords

GUÍA application

genomic results

diverse populations

bilingual populations

digital technologies

genetic counseling

result disclosure

genomic sequencing

telehealth

satisfaction rates