Dataset Information

The ACCOuNT Consortium: A Model for the Discovery, Translation, and Implementation of Precision Medicine in African Americans.

ABSTRACT: The majority of pharmacogenomic (PGx) studies have been conducted on European ancestry populations, thereby excluding minority populations and impeding the discovery and translation of African American-specific genetic variation into precision medicine. Without accounting for variants found in African Americans, clinical recommendations based solely on genetic biomarkers found in European populations could result in misclassification of drug response in African American patients. To address these challenges, we formed the Transdisciplinary Collaborative Center (TCC), African American Cardiovascular Pharmacogenetic Consortium (ACCOuNT), to discover novel genetic variants in African Americans related to clinically actionable cardiovascular phenotypes and to incorporate African American-specific sequence variations into clinical recommendations at the point of care. The TCC consists of two research projects focused on discovery and translation of genetic findings and four cores that support the projects. In addition, the largest repository of PGx information on African Americans is being established as well as lasting infrastructure that can be utilized to spur continued research in this understudied population.

SUBMITTER: Friedman PN

PROVIDER: S-EPMC6510376 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Publications

The ACCOuNT Consortium: A Model for the Discovery, Translation, and Implementation of Precision Medicine in African Americans.

Friedman Paula N PN Shaazuddin Mohammed M Gong Li L Grossman Robert L RL Harralson Arthur F AF Klein Teri E TE Lee Norman H NH Miller Doriane C DC Nutescu Edith A EA O'Brien Travis J TJ O'Donnell Peter H PH O'Leary Kevin J KJ Tuck Matthew M Meltzer David O DO Perera Minoli A MA

Clinical and translational science 20190212 3

The majority of pharmacogenomic (PGx) studies have been conducted on European ancestry populations, thereby excluding minority populations and impeding the discovery and translation of African American-specific genetic variation into precision medicine. Without accounting for variants found in African Americans, clinical recommendations based solely on genetic biomarkers found in European populations could result in misclassification of drug response in African American patients. To address thes ...[more]

PMID: 30592548

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Project description:Precision medicine emphasizes predictive, preventive and personalized treatment on the basis of information gleaned from personal genetic and environmental data. Its implementation at health systems level is regarded as multifactorial, involving variables associated with omics technologies, public genomic awareness and adoption tendencies for new medical technologies. However, interrelationships of the various factors and their synergy has not been sufficiently quantified. Based on a survey of 270 participants involved in the use of molecular tests (omics-based biomarkers, OBMs), this study examined how characteristics of omics biomarkers influence precision medicine implementation outcomes (ImO) through an intermediary factor, public genomic awareness (represented by User Response, UsR). A structural equation modelling (SEM) approach was applied to develop and test a 3 latent variable mediation model; each latent variable being measured by a set of indicators ranging between three and six. Mediation analysis results confirmed a partial mediation effect (an indirect effect represented as the product of paths 'a' and 'b' (a*b)) of 0.36 at 90% confidence level, CI = [0.03, 9.94]. Results from the individual mediation paths 'a' and 'b' however, showed that these effects were negative(a = -0.38, b = -0.94). Path 'a' represents the effect of characteristics of OBMs on the mediator, UsR; 'b' represents the effect of the mediator, UsR on implementation outcomes, ImO, holding OBMs constant. The results have both theoretical and practice implications for biomedical genomics research and clinical genomics, respectively. For instance, the results imply better ways have to be devised to more effectively engage the public in addressing extended family support for extended family cascade screening, especially for monogenic hereditary conditions like BRCA-related breast cancer and colorectal cancer in Lynch syndrome families. At basic biomedical research level, results suggest an integrated biomarker development pipeline, with early consideration of factors that may influence biomarker uptake. The results are also relevant at health systems level in indicating which factors should be addressed for successful.

Dataset Information

The ACCOuNT Consortium: A Model for the Discovery, Translation, and Implementation of Precision Medicine in African Americans.

Publications

The ACCOuNT Consortium: A Model for the Discovery, Translation, and Implementation of Precision Medicine in African Americans.

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