Utility of Genome Sequencing in Community Care Contexts

From BrothersBrothers
Date Updated 2020/05/11
Event Section Grants and Contracts
Event Date
Event Start Date 2020/09/01
Event End Date 2020/08/31
Role/Degree Co-Principal Investigator
Title Utility of Genomic Sequencing in Community Care Contexts
Organization/Committee/Department/Journal Name National Institutes of Health, National Human Genome Research Institute
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CVDescription Efforts to translate genomic sequencing technologies into clinical care have faced ongoing challenges defining and measuring utility. Evaluation of utility is particularly difficult in the context of efforts to translate genomic sequencing technologies like exome sequencing (ES) and genome sequencing (GS) to the diagnosis of children with undiagnosed genetic conditions, since these conditions are rarely responsive to pharmacological interventions and parents often express a wide variety of reasons for wanting a genomic diagnosis for their child. We hypothesize that previous efforts to identify the clinical utility of ES and GS have missed important dimensions of utility that fall in the “middle ground” between conventional notions of clinical and personal utility. Most of the care and services that improve functioning and quality of life for children with complex genetic conditions occur outside doctors’ offices: physical therapy; occupational therapy; speech-language pathology; behavioral intervention and other mental healthcare; and special education services. However, it is unknown whether receiving a genomic diagnosis currently provides utility in these community contexts, and what evidence might be needed to increase this utility. This project will address this gap through a rigorous study of potential and actual utilities that children with undiagnosed genetic conditions might receive in community settings as a result of receiving a genomic diagnosis. The overall aim of this study is to identify (1) community-based utilities currently being realized following genomic diagnosis, (2) perspectives of community-based professionals regarding the potential utility of such diagnoses, and (3) sources of information (including medical professionals, parent support groups, and social media) that might support utility for rare genetic conditions.
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Grant Status Pending
Funder Grant Number 1R01HG011598-01
UofL Office of Grants Management Number OGMB200841
Grant PI Kyle Brothers, Greg Cooper
Grant Direct Costs $2,593,209
Grant Indirect Costs $453,288
Grant Percent Effort 25
Grant Percent Collaboration 80
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