# Utility of Genomic Sequencing in Community Care Contexts

> **NIH NIH R01** · UNIVERSITY OF LOUISVILLE · 2022 · $749,333

## Abstract

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.

## Key facts

- **NIH application ID:** 10492483
- **Project number:** 5R01HG011598-02
- **Recipient organization:** UNIVERSITY OF LOUISVILLE
- **Principal Investigator:** Kyle Bertram Brothers
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $749,333
- **Award type:** 5
- **Project period:** 2021-09-22 → 2025-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10492483

## Citation

> US National Institutes of Health, RePORTER application 10492483, Utility of Genomic Sequencing in Community Care Contexts (5R01HG011598-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10492483. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*