Engaging Community Stakeholders in Research on Best Practices for Clinical Genomic Sequencing

Abstract

Aim: Maximizing the utility and equity of genomic sequencing integration in clinical care requires engaging patients, their families, and communities. The NCGENES 2 study explores the impact of engagement between clinicians and caregivers of children with undiagnosed conditions in the context of a diagnostic genomic sequencing study. Methods: A Community Consult Team (CCT) of diverse parents and advocates for children with genetic and/or neurodevelopmental conditions was formed. Results: Early and consistent engagement with the CCT resulted in adaptations to study protocol and materials relevant to this unique study population. Discussion: This study demonstrates valuable contributions of community stakeholders to inform the implementation of translational genomics research for diverse participants.

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: A randomized controlled trial

“…If necessary, the parent can call the study toll-free number to have the study coordinator answer the child's questions. Early and continued engagement of important and diverse stakeholders through the development and implementation phases of the trial has been crucial for developing sensitive approaches to address myriad potential barriers to research processes and participation (57).…”

“…We have engaged three parent/caregiver groups: 1) individuals with prior genomic research experience; 2) individuals with personal experience as a caregiver of a child with a genetic condition; and 3) individuals who are caregivers and/or advocates for families of children with neurodevelopmental needs. Parents/caregivers who had participated in the original NCGENES study from under-represented and underserved population groups provided experiential perspective on motivations for research participation, ways to facilitate participation by supporting families through long clinic visits, and ways to encourage engagement between caregivers and their child's doctors (57). Recruitment telephone scripts and participant compensation plans were revised with feedback from caregiver members from a sickle cell disease community network.…”

“…A Community Consult Team (CCT) was established to provide continuing materials re nement and ongoing insight. The CCT comprises a diverse group of individuals who are parents of children with neurodevelopmental needs, and/or advocates for families, especially those with special needs children (57). Most of the CCT members also identify as members of under-represented and underserved populations.…”

“…Thus, parents and children will be contacted at three-month intervals throughout the study to encourage continued study engagement and hopefully ensure the study maintains current contact information. The study's CCT may help highlight other potential barriers to recruitment and retention and offer suggestions (57).…”

Advancing precision public health using human genomics: examples from the field and future research opportunities

“…For example, the North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing 2 (NCGENES2), a diagnostic genomic sequencing study for children with undiagnosed conditions, explored the impact of a Community Consult Team consisting of clinicians and caregivers in order to maximize the utility and equity of genomic sequencing [ 25 ]. Engaging this team resulted in adaptations to the study protocol and materials, demonstrating the valuable contribution of community engagement to inform the implementation of translational human genomics research [ 67 ]. Another example, the Quebec CARTaGENE project, a large-scale genetic database that serves as a public research platform, engaged the public about their willingness to participate in such a project.…”