Utility of genomic sequencing in community care contexts
Ended Project Grant Awarded Last action
- Award ID
- R01HG011598
- Recipient
-
University Of Louisville UEI E1KJM4T54MK6
- Awarding agency
-
National Human Genome Research Institute
National Institutes of Health, Department of Health and Human Services
- Obligated
- $5,980,457
Award facts
- Assistance listing
- 93.172 Human Genome Research
- Completion date
- Originally
- Funding
-
- $5,161,736.69 Federal
- $818,720.00 Non-federal
- Place of performance
- Kentucky, USA
Award details come from USAspending.gov.
Description
- 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.
Transactions
| Action | Federal | Non-federal | Date |
|---|---|---|---|
| Amendment | -$189,302 | $0 | |
| Amendment | $0 | $0 | |
| Amendment | $0 | $0 | |
| Amendment | $716,267 | $0 | |
| Amendment | $749,333 | $0 | |
| Amendment | $749,333 | $0 | |
| Amendment | $749,333 | $0 | |
| Amendment | $749,333 | $0 | |
| Amendment | $0 | $0 | |
| Amendment | $0 | $0 | |
| Amendment | $0 | $0 | |
| Amendment | $818,720 | $0 | |
| Original award | $818,720 | $818,720 |
Show all 13
Subawards
| Subrecipient | Amount | Awarded |
|---|---|---|
| Hudsonalpha Institute For Biotechnology | $49,785 | |
| University Of North Carolina At Chapel Hill | $117,676 | |
| University Of Alabama At Birmingham | $50,398 | |
| University Of North Carolina At Chapel Hill | $38,315 | |
| Case Western Reserve University | $81,176 | |
| Vanderbilt University Medical Center | $55,392 | |
| Hudsonalpha Institute For Biotechnology | $203,350 | |
| Vanderbilt University Medical Center | $71,629 |
Quick answers
Who received award R01HG011598?
R01HG011598 was awarded to University Of Louisville by National Human Genome Research Institute (National Institutes of Health) on September 22, 2021.
How much is award R01HG011598 worth?
$5,980,457 has been obligated on R01HG011598: $5,161,737 in federal funding and $818,720 in non-federal funding.
On GovTribe
See this award's full record
- Every transaction and subaward
- The recipient's other awards and teaming partners
- Similar grant awards
- Ask GovTribe AI about this award