2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Impact of genetic counseling using GUÍA on diverse families' understanding of genomic results: finding from the NYCKidSeq randomized controlled trial

Pdf Summary

The impact of genetic counseling on families' understanding of genomic sequencing (GS) results is important for medical decision-making. However, workforce shortages and increasing patient populations can limit access to in-person counseling. To address this challenge, the NYCKidSeq study developed a digital platform called GUÍA (Genomic Understanding, Information, and Awareness application) to facilitate the communication of GS results to Spanish and English-speaking patients and families.<br /><br />In a randomized controlled trial, parents or legal guardians of children with neurologic, cardiac, and immunologic conditions underwent GS and were randomized to receive either standard of care genetic counseling (SOC) or genetic counseling with GUÍA (intervention). Participants completed surveys to assess their understanding of GS results and confidence in explaining them to others at baseline, after return of results (ROR1), and approximately six months post-ROR (ROR2).<br /><br />Overall, participants reported high perceived and objective understanding of their child's GS results and confidence in explaining them to others. The use of GUÍA positively impacted participants' perceived and objective understanding. Stratified analysis showed that Hispanic/Latinx participants who used GUÍA during result disclosure had higher perceived and objective understanding compared to those in SOC.<br /><br />The findings highlight differences in understanding between different racial and ethnic groups, suggesting the potential benefits of targeted digital approaches. Continued development and evaluation of digital genetic counseling applications in diverse populations are crucial for scaling up GS offerings in specialty clinics in an equitable manner.<br /><br />Overall, this study demonstrates the potential of digital platforms like GUÍA to enhance genetic counseling and improve understanding of GS results, particularly in underserved populations.

Asset Subtitle

Presenting Author - Sabrina A. Suckiel, MS, CGC; Co-Author - Nicole R. Kelly, MPH; 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 - Priya N. Marathe, MS, CGC; Co-Author - Kaitlyn Brown, MS; Co-Author - Miranda Di Biase, MS, CGC; 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

Co-Author Nicole R. Kelly, MPH

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 Priya N. Marathe, MS, CGC

Co-Author Kaitlyn Brown, MS

Co-Author Miranda Di Biase, MS, CGC

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 Sabrina A. Suckiel, MS, CGC

Keywords

genetic counseling

genomic sequencing

medical decision-making

digital platform

GUÍA

underserved populations

patient populations

racial and ethnic groups

specialty clinics

equitable manner