HudsonAlpha Institute for Biotechnology The goal of this proposal is to use whole genome sequencing (WGS) to diagnose ill neonates of diverse backgrounds in the Deep South, to increase patient and provider familiarity with genomic testing, and to provide and evaluate resources to facilitate the expanded utilization of clinical genomic testing. This project will be a collaboration between genomic researchers and educators at the HudsonAlpha Institute for Biotechnology, clinicians and outcomes experts at the University of Alabama at Birmingham, clinicians at the University of Mississippi Medical Center and Druid City Hospital, and investigators at the University of Louisville interested in the ethical, legal, and social consequences of returning genetic results. 2,000 infants with signs suggestive of a genetic disorder being treated at a neonatal intensive care unit (NICU) in which African-American and rural populations are highly represented will be enrolled. WGS will be used to identify pathogenic variation in DNA from these infants. Stakeholders, including parents, clinicians, and community leaders, will be engaged to develop culturally adapted educational materials and to equip non-genetics providers to return WGS results. Parents will be provided with these materials through a web portal, the Genome Gateway, and will be placed into one of two arms of a randomized trial to compare the effectiveness technology-assisted WGS result delivery by non-genetics providers relative to result delivery from genetic counselors. A health care cost analysis will be conducted to compare children who received WGS relative to comparator children who did not.
The final aim will serve to disseminate study findings and gather feedback from key stakeholders to promote uptake and broader access to clinical sequencing technologies. This study will address discrepancies in participation in genomic research by diverse racial/ethnic groups and the need for educational support to facilitate progress towards safer, more effective, and more equitably distributed genomic medicine. of

Public Health Relevance

/Relevance HudsonAlpha Institute for Biotechnology Whole genome sequencing (WGS) has been shown to positively impact patients by effectively diagnosing rare disorders. Unfortunately, participation in studies utilizing this technology has been disproportionately enriched for individuals of European ancestry. Increasing access to clinical genomic testing and research for diverse populations is a major priority. This proposal outlines an important study to apply WGS to diagnose neonates with rare disorders, increase participation of individuals from underrepresented racial/ethnic groups in genomics clinical trials, provide educational materials appropriate to diverse audiences, equip non-genetics healthcare providers to return WGS results, assess the impact of WGS testing and results, and engage a broad community to implement safer, more effective, and more equitably distributed genomic medicine.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project--Cooperative Agreements (U01)
Project #
2U01HG007301-05
Application #
9327353
Study Section
Special Emphasis Panel (ZHG1)
Program Officer
Hindorff, Lucia
Project Start
2013-06-14
Project End
2021-05-31
Budget Start
2017-08-01
Budget End
2018-05-31
Support Year
5
Fiscal Year
2017
Total Cost
Indirect Cost
Name
Hudson-Alpha Institute for Biotechnology
Department
Type
DUNS #
780007410
City
Huntsville
State
AL
Country
United States
Zip Code
35806
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Sanghvi, Rashesh V; Buhay, Christian J; Powell, Bradford C et al. (2018) Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20:855-866
Thompson, Michelle L; Finnila, Candice R; Bowling, Kevin M et al. (2018) Genomic sequencing identifies secondary findings in a cohort of parent study participants. Genet Med :
Tripathy, Ratna; Leca, Ines; van Dijk, Tessa et al. (2018) Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron :