Difference between revisions of "Clinical sequencing across communities in the Deep South"

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|Event End Date=2021/05/31
 
|Event End Date=2021/05/31
 
|Role/Degree=Co-investigator
 
|Role/Degree=Co-investigator
|Title=Clinical sequencing across communities in the Deep South
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|Title=South-SEQ: DNA Sequencing for Newborn Nurseries in the South
 
|Organization/Committee/Department/Journal Name=National Institutes of Health, National Human Genome Research Institute
 
|Organization/Committee/Department/Journal Name=National Institutes of Health, National Human Genome Research Institute
 
|CVDescription=Whole genome sequencing (WGS) for patients with rare disease has great potential to improve upon outcomes related to diagnosis, patient well-being, and cost. In this project we bring together a clinical genome center (HudsonAlpha), academic medical centers (University of Alabama at Birmingham, University of Mississippi, and the University of Louisville), and a community hospital (Druid City Hospital) to pursue the following Aims:
 
|CVDescription=Whole genome sequencing (WGS) for patients with rare disease has great potential to improve upon outcomes related to diagnosis, patient well-being, and cost. In this project we bring together a clinical genome center (HudsonAlpha), academic medical centers (University of Alabama at Birmingham, University of Mississippi, and the University of Louisville), and a community hospital (Druid City Hospital) to pursue the following Aims:

Latest revision as of 08:45, 9 January 2018

Date Updated 2016/08/11
Event Section Grants and Contracts
Event Date
Event Start Date 2017/08/01
Event End Date 2021/05/31
Role/Degree Co-investigator
Title South-SEQ: DNA Sequencing for Newborn Nurseries in the South
Organization/Committee/Department/Journal Name National Institutes of Health, National Human Genome Research Institute
Institution/School/Hospital
City
State
Expiration Date
CVDescription Whole genome sequencing (WGS) for patients with rare disease has great potential to improve upon outcomes related to diagnosis, patient well-being, and cost. In this project we bring together a clinical genome center (HudsonAlpha), academic medical centers (University of Alabama at Birmingham, University of Mississippi, and the University of Louisville), and a community hospital (Druid City Hospital) to pursue the following Aims:

Specific Aim 1: Conduct WGS testing on 2,000 newborns with signs suggestive of a genetic disorder being treated at hospitals in which African-American and rural populations are highly represented. From the neonatal intensive care unit (NICU), patients will be ascertained based on findings that would typically prompt medical genetics referral and for which an immediate diagnosis is not otherwise apparent. Specific Aim 2: Develop culturally adapted interventions that are congruent with stakeholders’ attitudes, preferences, and practical needs to increase effectiveness of WGS-informed care. Specific Aim 3: Compare technology-assisted community-based WGS result delivery by non-genetics providers to formal genetic counseling by genetic counselors. Specific Aim 4: Evaluate the economic impact of WGS-based testing. Specific Aim 5: Promote scale-up and uptake of WGS by engaging stakeholders in the interpretation and dissemination of study findings to diverse audiences.

Anticipated Year
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Grant Status Current
Funder Grant Number 2U01HG007301-05
UofL Office of Grants Management Number CCDB170104
Grant PI Greg Cooper, Bruce Korf
Grant Direct Costs $218,442
Grant Indirect Costs $117,959
Grant Percent Effort 15
Grant Percent Collaboration 100
Invited Talk Boolean No
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JAMA Format Reference
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Presenter Boolean No
Organizer Boolean No
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