338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary Care Article Swipe
Nita A. Limdi
,
Devin Absher
,
Irf Asif
,
Lori Brand Bateman
,
Gregory S. Barsh
,
Kevin M. Bowling
,
Gregory M. Cooper
,
Brittney H. Davis
,
Kelly M. East
,
Candice R. Finnila
,
Blake Goff
,
Susan M. Hiatt
,
Melissa Kelly
,
Whitley V. Kelley
,
Bruce R. Korf
,
Donald R. Latner
,
James M.J. Lawlor
,
Thomas May
,
Matt Might
,
Irene Moss
,
Mariko Nakano‐Okuno
,
Tiffany Osborne
,
Stephen Sodeke
,
Adriana Stout
,
Michelle L. Thompson
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1017/cts.2023.383
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1017/cts.2023.383
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.
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- https://doi.org/10.1017/cts.2023.383
- https://www.cambridge.org/core/services/aop-cambridge-core/content/view/8177E89964A4F3AA668590E3D6869746/S2059866123003837a.pdf/div-class-title-338-the-alabama-genomic-health-initiative-integrating-genomic-medicine-into-primary-care-div.pdf
- OA Status
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- OpenAlex ID
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Raw OpenAlex JSON
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https://openalex.org/W4366830993Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1017/cts.2023.383Digital Object Identifier
- Title
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338 The Alabama Genomic Health Initiative: Integrating Genomic Medicine into Primary CareWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-04-01Full publication date if available
- Authors
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Nita A. Limdi, Devin Absher, Irf Asif, Lori Brand Bateman, Gregory S. Barsh, Kevin M. Bowling, Gregory M. Cooper, Brittney H. Davis, Kelly M. East, Candice R. Finnila, Blake Goff, Susan M. Hiatt, Melissa Kelly, Whitley V. Kelley, Bruce R. Korf, Donald R. Latner, James M.J. Lawlor, Thomas May, Matt Might, Irene Moss, Mariko Nakano‐Okuno, Tiffany Osborne, Stephen Sodeke, Adriana Stout, Michelle L. ThompsonList of authors in order
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https://doi.org/10.1017/cts.2023.383Publisher landing page
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https://www.cambridge.org/core/services/aop-cambridge-core/content/view/8177E89964A4F3AA668590E3D6869746/S2059866123003837a.pdf/div-class-title-338-the-alabama-genomic-health-initiative-integrating-genomic-medicine-into-primary-care-div.pdfDirect link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://www.cambridge.org/core/services/aop-cambridge-core/content/view/8177E89964A4F3AA668590E3D6869746/S2059866123003837a.pdf/div-class-title-338-the-alabama-genomic-health-initiative-integrating-genomic-medicine-into-primary-care-div.pdfDirect OA link when available
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Medicine, Cohort, Pharmacogenetics, Personalized medicine, Population, Genomic medicine, Genotyping, Disease, Precision medicine, Pharmacogenomics, Family medicine, Bioinformatics, Internal medicine, Genetics, Genotype, Environmental health, Gene, Biology, Pharmacology, Computational biology, PathologyTop concepts (fields/topics) attached by OpenAlex
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1Total citation count in OpenAlex
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