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338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care
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- Nita A Limdi, Devin Absher, Irf Asif, Lori Bateman, Greg Barsh, Kevin M. Bowling, Gregory M. Cooper, Brittney H. Davis, Kelly M. East, Candice R. Finnila, Blake Goff, Susan Hiatt, Melissa Kelly, Whitley V. Kelley, Bruce R. Korf, Donald R. Latner, James Lawlor, Thomas May, Matt Might, Irene P. Moss, Mariko Nakano-Okuno, Tiffany Osborne, Stephen Sodeke, Adriana Stout, Michelle L. Thompson
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- Journal:
- Journal of Clinical and Translational Science / Volume 7 / Issue s1 / April 2023
- Published online by Cambridge University Press:
- 24 April 2023, pp. 100-101
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- Article
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OBJECTIVES/GOALS: Supported by the State of Alabama, the Alabama Genomic Health Initiative (AGHI) is aimed at preventing and treating common conditions with a genetic basis. This joint UAB Medicine-HudsonAlpha Institute for Biotechnology effort provides genomic testing, interpretation, and counseling free of charge to residents in each of Alabama’s 67 counties. METHODS/STUDY POPULATION: Launched in 2017, as a state-wide population cohort, AGHI (1.0) enrolled 6,331 Alabamians and returned individual risk of disease(s) related to the ACMG SF v2.0 medically actionable genes. In 2021, the cohort was expanded to include a primary care cohort. AGHI (2.0) has enrolled 750 primary care patients, returning individual risk of disease(s) related to the ACMG SF v3.1 gene list and pre-emptive pharmacogenetics (PGx) to guide medication therapy. Genotyping is done on the Illumina Global Diversity Array with Sanger sequencing to confirm likely pathogenic / pathogenic variants in medically actionable genes and CYP2D6 copy number variants using Taqman assays, resulting in a CLIA-grade report. Disease risk results are returned by genetic counselors and Pharmacogenetics results are returned by Pharmacists. RESULTS/ANTICIPATED RESULTS: We have engaged a statewide community (>7000 participants), returning 94 disease risk genetic reports and 500 PGx reports. Disease risk reports include increased predisposition to cancers (n=38), cardiac diseases (n=33), metabolic (n=12), other (n=11). 100% of participants harbor an actionable PGx variant, 70% are on medication with PGx guidance, 48% harbor PGx variants and are taking medications affected. In 10% of participants, pharmacists sent an active alert to the provider to consider/ recommend alternative medication. Most commonly impacted medications included antidepressants, NSAIDS, proton-pump inhibitors and tramadol. To enable the EMR integration of genomic information, we have developed an automated transfer of reports into the EMR with Genetics Reports and PGx reports viewable in Cerner. DISCUSSION/SIGNIFICANCE: We share our experience on pre-emptive implementation of genetic risk and pharmacogenetic actionability at a population and clinic level. Both patients and providers are actively engaged, providing feedback to refine the return of results. Real time alerts with guidance at the time of prescription are needed to ensure future actionability and value.
The case for strategic international alliances to harness nutritional genomics for public and personal health†
- Jim Kaput, Jose M. Ordovas, Lynnette Ferguson, Ben van Ommen, Raymond L. Rodriguez, Lindsay Allen, Bruce N. Ames, Kevin Dawson, Bruce German, Ronald Krauss, Wasyl Malyj, Michael C. Archer, Stephen Barnes, Amelia Bartholomew, Ruth Birk, Peter van Bladeren, Kent J. Bradford, Kenneth H. Brown, Rosane Caetano, David Castle, Ruth Chadwick, Stephen Clarke, Karine Clément, Craig A. Cooney, Dolores Corella, Ivana Beatrice Manica da Cruz, Hannelore Daniel, Troy Duster, Sven O. E. Ebbesson, Ruan Elliott, Susan Fairweather-Tait, Jim Felton, Michael Fenech, John W. Finley, Nancy Fogg-Johnson, Rosalynn Gill-Garrison, Michael J. Gibney, Peter J. Gillies, Jan-Ake Gustafsson, John L. Hartman IV, Lin He, Jae-Kwan Hwang, Jean-Philippe Jais, Yangsoo Jang, Hans Joost, Claudine Junien, Mitchell Kanter, Warren A. Kibbe, Berthold Koletzko, Bruce R. Korf, Kenneth Kornman, David W. Krempin, Dominique Langin, Denis R. Lauren, Jong Ho Lee, Gilbert A. Leveille, Su-Ju Lin, John Mathers, Michael Mayne, Warren McNabb, John A. Milner, Peter Morgan, Michael Muller, Yuri Nikolsky, Frans van der Ouderaa, Taesun Park, Norma Pensel, Francisco Perez-Jimenez, Kaisa Poutanen, Matthew Roberts, Wim H.M. Saris, Gertrud Schuster, Andrew N. Shelling, Artemis P. Simopoulos, Sue Southon, E. Shyong Tai, Bradford Towne, Paul Trayhurn, Ricardo Uauy, Willard J. Visek, Craig Warden, Rick Weiss, John Wiencke, Jack Winkler, George L. Wolff, Xi Zhao-Wilson, Jean-Daniel Zucker
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- Journal:
- British Journal of Nutrition / Volume 94 / Issue 5 / November 2005
- Published online by Cambridge University Press:
- 08 March 2007, pp. 623-632
- Print publication:
- November 2005
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Nutrigenomics is the study of how constituents of the diet interact with genes, and their products, to alter phenotype and, conversely, how genes and their products metabolise these constituents into nutrients, antinutrients, and bioactive compounds. Results from molecular and genetic epidemiological studies indicate that dietary unbalance can alter gene–nutrient interactions in ways that increase the risk of developing chronic disease. The interplay of human genetic variation and environmental factors will make identifying causative genes and nutrients a formidable, but not intractable, challenge. We provide specific recommendations for how to best meet this challenge and discuss the need for new methodologies and the use of comprehensive analyses of nutrient–genotype interactions involving large and diverse populations. The objective of the present paper is to stimulate discourse and collaboration among nutrigenomic researchers and stakeholders, a process that will lead to an increase in global health and wellness by reducing health disparities in developed and developing countries.