Engaging community stakeholders in research on best practices for clinical genomic sequencing.

PERSONALIZED MEDICINE(2020)

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摘要
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.
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关键词
clinical trial,community-academic partnerships,community engagement,diagnostic odyssey,genetics,genomic sequencing,health equity,health services research,precision medicine,underserved populations
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