scholarly journals Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing

2013 ◽  
Vol 161 (5) ◽  
pp. 1064-1072 ◽  
Author(s):  
Joon-Ho Yu ◽  
Julia Crouch ◽  
Seema M. Jamal ◽  
Holly K. Tabor ◽  
Michael J. Bamshad
Keyword(s):  
African Americans ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Return Of Results ◽  
Whole Genome

scholarly journals Whole genome sequencing of pharmacogenetic drug response in racially and ethnically diverse children with asthma

2017 ◽  
Author(s):  
Angel C.Y. Mak ◽  
Marquitta J. White ◽  
Zachary A. Szpiech ◽  
Walter L. Eckalbar ◽  
Sam S. Oh ◽  
...  
Keyword(s):  
African Americans ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Drug Response ◽  
Puerto Ricans ◽  
Ethnically Diverse ◽  
Asthma Prevalence ◽  
Whole Genome ◽  
Minority Children ◽  
Children With Asthma

ABSTRACTAsthma is the most common chronic disease of children, with significant racial/ethnic differences in prevalence, morbidity, mortality and therapeutic response. Albuterol, a bronchodilator medication, is the first-line therapy for asthma treatment worldwide. We performed the largest whole genome sequencing (WGS) pharmacogenetics study to date using data from 1,441 minority children with asthma who had extremely high or low bronchodilator drug response (BDR). We identified population-specific and shared pharmacogenetic variants associated with BDR, including genome-wide significant (p < 3.53 x 10-7) and suggestive (p < 7.06 x 10-6) loci near genes previously associated with lung capacity (DNAH5), immunity (NFKB1 and PLCB1), and β-adrenergic signaling pathways (ADAMTS3 and COX18). Functional analyses centered on NFKB1 revealed potential regulatory function of our BDR-associated SNPs in bronchial smooth muscle cells. Specifically, these variants are in linkage disequilibrium with SNPs in a functionally active enhancer, and are also expression quantitative trait loci (eQTL) for a neighboring gene, SLC39A8. Given the lack of other asthma study populations with WGS data on minority children, replication of our rare variant associations is infeasible. We attempted to replicate our common variant findings in five independent studies with GWAS data. The age-specific associations previously found in asthma and asthma-related traits suggest that the over-representation of adults in our replication populations may have contributed to our lack of statistical replication, despite the functional relevance of the NFKB1 variants demonstrated by our functional assays. Our study expands the understanding of pharmacogenetic analyses in racially/ethnically diverse populations and advances the foundation for precision medicine in at-risk and understudied minority populations.AUTHOR SUMMARYAsthma is the most common chronic disease among children. Albuterol, a bronchodilator medication, is the first-line therapy for asthma treatment worldwide. In the U.S., asthma prevalence is the highest among Puerto Ricans, intermediate among African Americans and lowest in Whites and Mexicans. Asthma disparities extend to mortality, which is four- to five-fold higher in Puerto Ricans and African Americans compared to Mexicans [1]. Puerto Ricans and African Americans, the populations with the highest asthma prevalence and death rate, also have the lowest albuterol bronchodilator drug response (BDR). We conducted the largest pharmacogenetic study using whole genome sequencing data from 1,441 minority children with asthma who had extremely high or low albuterol bronchodilator drug response. We identified population-specific and shared pharmacogenetic variants associated with BDR. Our findings help inform the direction of future development of asthma medications and our study advances the foundation of precision medicine for at-risk, yet understudied, racially/ethnically diverse populations.

scholarly journals Su1028 – Whole-Genome Sequencing of African Americans Identifies Novel Rare Variants Associated with Inflammatory Bowel Disease

2019 ◽  
Vol 156 (6) ◽  
pp. S-488-S-489
Author(s):  
Hari K. Somineni ◽  
Talin Haritunians ◽  
Claire L. Simpson ◽  
David J. Cutler ◽  
David Okou ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
African Americans ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Bowel Disease ◽  
Rare Variants ◽  
Whole Genome ◽  
Inflammatory Bowel

scholarly journals Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing

2014 ◽  
Vol 164 (9) ◽  
pp. 2153-2160 ◽  
Author(s):  
Joon-Ho Yu ◽  
Julia Crouch ◽  
Seema M. Jamal ◽  
Michael J. Bamshad ◽  
Holly K. Tabor
Keyword(s):  
African American ◽  
Focus Group ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Return Of Results ◽  
Whole Genome

scholarly journals Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

2021 ◽  
Author(s):  
E Venner ◽  
D Muzny ◽  
JD Smith ◽  
K Walker ◽  
CL Neben ◽  
...  
Keyword(s):  
United States ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Research Program ◽  
Disease Risk ◽  
The United States ◽  
Return Of Results ◽  
Whole Genome ◽  
Data Generation ◽  
Health Related

AbstractThe All of Us Research Program (AoURP, ‘the program’) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the United States. Through repeated engagement of participants, a research resource is being created to enable a variety of future observational and interventional studies. The program has also committed to genomic data generation and returning important health-related information to participants. To do so, whole genome sequencing (WGS), variant calling processes, data interpretation, and return-of-results procedures had to be created and receive an Investigational Device Exemption (IDE) from the United States Food and Drug Administration (FDA). The performance of the entire workflow was assessed through the largest known cross-center, WGS-based, validation activity that was refined iteratively through interactions with the FDA over many months. The accuracy and precision of the WGS process as a device for the return of certain health-related genomic results was determined to be sufficient, and an IDE was granted. We present here both the process of navigating the IDE application process with the FDA and the results of the validation study as a guide to future projects which may need to follow a similar path. Future supplements to the IDE will be submitted to support additional variant classes, sample types, and any expansion to the reportable regions.

scholarly journals Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease

2021 ◽  
Vol 108 (3) ◽  
pp. 431-445
Author(s):  
Hari K. Somineni ◽  
Sini Nagpal ◽  
Suresh Venkateswaran ◽  
David J. Cutler ◽  
David T. Okou ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
African Americans ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Bowel Disease ◽  
Genetic Architecture ◽  
Whole Genome ◽  
Inflammatory Bowel

Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

2018 ◽  
Author(s):  
Mark Stevenson ◽  
Alistair T Pagnamenta ◽  
Heather G Mack ◽  
Judith A Savige ◽  
Kate E Lines ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Complex Disorders ◽  
Tubular Disorders ◽  
Renal Tubular Disorders ◽  
Renal Tubular
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