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

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Revision as of 11:19, 11 August 2016

Date Updated 2016/08/11
Event Section Grants and Contracts
Event Date
Event Start Date 2017/06/01
Event End Date 2021/05/31
Role/Degree Co-investigator
Title Clinical sequencing across communities in the Deep South
Organization/Committee/Department/Journal Name National Institutes of Health, National Human Genome Research Institute
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. Building

on our earlier CSER work, we propose to establish a CSER2 site with enhanced diversity. We bring together a clinical genome center (HudsonAlpha), academic medical centers (University of Alabama at Birmingham and University of Mississippi), 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.

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Grant Status Pending
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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
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