Evidence map›Paper›PMID 34121327›Full record

ArticleClinical and translational science2021

Evaluation of population-level pharmacogenetic actionability in Alabama.

Brittney H Davis, Kelly Williams, Devin Absher, Bruce Korf, Nita A Limdi

Open access · goldAbstract readEvaluation Study
In one paragraph

Article in Clinical and translational science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.0field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. The Frequency ofPharmaceutics · 2024
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Brittney H DavisDepartment of Neurology, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.ORCID 0000-0001-6717-2649
Kelly WilliamsDepartment of Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Devin AbsherDepartment of Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Bruce KorfHudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Nita A LimdiDepartment of Neurology, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
University of Alabama at Birmingham · USHudsonAlpha Institute for Biotechnology · US

Funding

National Dissemination of I-Corps@NCATS: Accelerating Translation through CommercializationUL1TR003096 · NCATS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI GUTIERREZ, ORLANDO M, KIMBERLY, ROBERT P. · 2019 to 2023
$43.6M
UAB-HudsonAlpha Genomic Medicine Training ProgramT32HG008961 · NHGRI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Gregory Michael Cooper, Marguerite R Irvin · 2016 to 2026
$2.5M
Patient Oriented Research in Personalized Antithrombotic TherapyK24HL133373 · NHLBI · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI LIMDI, NITA A · 2016 to 2025
$1.2M
Hugh Kaul Precision Medicine InstituteNCATS NIH HHS UL1 TR003096NHGRI NIH HHS T32 HG008961NHLBI NIH HHS K24 HL133373UAB-HudonAlpha Center for Genomic Medicine
6 · The paper itself

Abstract

The evolution of evidence and availability of Clinical Pharmacogenetic Implementation Consortium (CPIC) guidelines have enabled assessment of pharmacogenetic (PGx) actionability and clinical implementation. However, population-level actionability is not well-characterized. We leveraged the Alabama Genomic Health Initiative (AGHI) to evaluate population-level PGx actionability. Participants (>18 years), representing all 67 Alabama counties, were genotyped using the Illumina Global Screening array. Using CPIC guidelines, actionability was evaluated using (1) genotype data and genetic ancestry, (2) prescribing data, and (3) combined genotype and medication data. Of 6,331 participants, 4230 had genotype data and 3386 had genotype and prescription data (76% women; 76% White/18% Black [self-reported]). Genetic ancestry was concordant with self-reported race. For CPIC level A genes, 98.6% had an actionable genotype (99.4% Blacks/African; 98.5% White/European). With the exception of DPYD and CYP2C19, the prevalence of actionable genotypes by gene differed significantly by race. Based on prescribing, actionability was highest for CYP2D6 (70.9%), G6PD (54.1%), CYP2C19 (53.5%), and CYP2C9 (47.5%). Among participants prescribed atenolol, carvedilol, or metoprolol, ~ 50% had an actionable ADRB1 genotype, associated with decreased therapeutic response, with higher actionability among Blacks compared to Whites (62.5% vs. 47.4%; p < 0.0001). Based on both genotype and prescribing frequencies, no significant differences in actionability were observed between men and women. This statewide effort highlights PGx population-level impact to help optimize pharmacotherapy. Almost all Alabamians harbor an actionable genotype, and a significant proportion are prescribed affected medications. Statewide efforts, such as AGHI, lay the foundation for translational research and evaluate "real-world" outcomes of PGx.

Indexed as

PharmacogeneticsPharmacogenomic TestingAdolescentAdultAlabamaCytochrome P-450 CYP2C19Cytochrome P-450 CYP2D6FemaleGenetics, PopulationGenotypeHumansMaleMiddle AgedPrecision MedicinePrescription DrugsYoung AdultCytochrome P-450 CYP2C19Cytochrome P-450 CYP2D6Prescription Drugs

Identifiers

PMID34121327
PMCPMC8604228
OpenAlexW3170303528

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.