A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study

Selina Casalino; Chloe Mighton; Marc Clausen; Erika Frangione; Navneet Aujla; Georgia MacDonald; Juliet Young; Chun Yiu Jordan Fung; Gregory Morgan; Saranya Arnoldo; Erin Bearss; Alexandra Binnie; Bjug Borgundvaag; Sunakshi Chowdhary; Marc Dagher; Luke Devine; Steven Marc Friedman; Limin Hao; Zeeshan Khan; William Lane; Elisa Lapadula; Matthew Lebo; David Richardson; Seth Stern; Lisa Strug; Ahmed Taher; Elena Greenfeld; Abdul Noor; Hanna Faghfoury; Jennifer Taher; Yvonne Bombard; Jordan Lerner-Ellis; GENCOV Study Workgroup

doi:10.1016/j.gim.2024.101272

A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study

Genet Med. 2024 Sep 17;26(12):101272. doi: 10.1016/j.gim.2024.101272. Online ahead of print.

Authors

Selina Casalino¹, Chloe Mighton², Marc Clausen³, Erika Frangione¹, Navneet Aujla¹, Georgia MacDonald¹, Juliet Young¹, Chun Yiu Jordan Fung¹, Gregory Morgan⁴, Saranya Arnoldo⁵, Erin Bearss⁶, Alexandra Binnie⁵, Bjug Borgundvaag⁷, Sunakshi Chowdhary⁸, Marc Dagher⁹, Luke Devine¹⁰, Steven Marc Friedman¹¹, Limin Hao¹², Zeeshan Khan¹³, William Lane¹⁴, Elisa Lapadula¹, Matthew Lebo¹⁵, David Richardson¹⁶, Seth Stern¹³, Lisa Strug¹⁷, Ahmed Taher¹⁸, Elena Greenfeld¹⁰, Abdul Noor¹⁰, Hanna Faghfoury¹⁹, Jennifer Taher¹⁰, Yvonne Bombard²⁰, Jordan Lerner-Ellis²¹; GENCOV Study Workgroup

Collaborators

GENCOV Study Workgroup:
Brendan Dickson, Anne-Claude Gingras, Lee W Goneau, Tony Mazzulli, Allison McGeer, Shelley McLeod, Trevor J Pugh, Jared Simpson

Affiliations

¹ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada.
² Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Unity Health, Toronto, ON, Canada.
³ Genomics Health Services Research Program, Unity Health, Toronto, ON, Canada.
⁴ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.
⁵ University of Toronto, Toronto, ON, Canada; William Osler Health System, Brampton, ON, Canada.
⁶ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada.
⁷ University of Toronto, Toronto, ON, Canada; Schwartz/Reisman Emergency Medicine Institute, Sinai Health, Toronto, ON, Canada.
⁸ University Health Network, Toronto, ON, Canada.
⁹ Women's College Hospital, Toronto, ON, Canada.
¹⁰ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada.
¹¹ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; University Health Network, Toronto, ON, Canada.
¹² Laboratory for Molecular Medicine, Partner Personalized Medicine, Cambridge, MA.
¹³ Mackenzie Health, Richmond Hill, ON, Canada.
¹⁴ Harvard Medical School & Brigham and Women's Hospital, Boston, MA.
¹⁵ Laboratory for Molecular Medicine, Partner Personalized Medicine, Cambridge, MA; Harvard Medical School & Brigham and Women's Hospital, Boston, MA.
¹⁶ William Osler Health System, Brampton, ON, Canada.
¹⁷ The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.
¹⁸ University of Toronto, Toronto, ON, Canada; University Health Network, Toronto, ON, Canada; Mackenzie Health, Richmond Hill, ON, Canada.
¹⁹ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada; University Health Network, Toronto, ON, Canada.
²⁰ University of Toronto, Toronto, ON, Canada; Genomics Health Services Research Program, Unity Health, Toronto, ON, Canada. Electronic address: [email protected].
²¹ Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada. Electronic address: [email protected].

PMID: 39301805
DOI: 10.1016/j.gim.2024.101272

Abstract

Purpose: Novel uses of genome sequencing (GS) present an opportunity for return of results to healthy individuals, prompting the need for scalable genetic counseling strategies. We evaluate the effectiveness of a genomic counseling model (GCM) and explore preferences for GS findings in the general population.

Methods: Participants (N = 466) completed GS and our GCM (digital genomics platform and group-based webinar) and indicated results preferences. Surveys were administered before (T0) and after (T1) GCM. Change in knowledge and decisional conflict (DC) were evaluated using paired-sample T and Wilcoxon tests. Factors influencing knowledge and results preferences were evaluated using linear and logistic regression models.

Results: Participants were 56% female, 58% white, and 53% ≥40 years of age. Mean knowledge scores increased (Limitations: 3.73 to 5.63; Benefits: 4.34 to 5.48, P < .0001), and DC decreased (-21.9, P < .0001) at T1 versus T0. Eighty-six percent of participants wished to learn all GS findings at T1 vs 78% at T0 (P < .0001). Older age, negative/mixed attitudes toward genetics and greater DC were associated with change in preferences after intervention.

Conclusion: In a population-based cohort undergoing GS interested in learning GS findings, our GCM increased knowledge and reduced DC, illustrating the GCM's potential effectiveness for GS counseling in the general population.

Keywords: Digital tools; Genome sequencing; Genomic counseling; Population screening; Preferences.