Utility of Genomic Sequencing in Community Care Contexts

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PROJECT SUMMARY/ABSTRACT Efforts to translate genomic sequencing technologies into clinical care have faced ongoing challenges defining and measuring utility. Evaluation of utility (and disutility) 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 effects (positive, negative, and neutral) 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 or disutility in these community contexts, and what evidence might be needed to increase utility and minimize disutility. This project will address this gap through a rigorous study of potential and actual effects that children with undiagnosed genetic conditions might experience 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.