Evidence map›Paper›PMID 33237584›Full record

ArticleClinical pharmacology and therapeutics2021

Pharmacogenetics at Scale: An Analysis of the UK Biobank.

Gregory McInnes, Adam Lavertu, Katrin Sangkuhl, Teri E Klein, Michelle Whirl-Carrillo, Russ B Altman

Open access · greenAbstract read
In one paragraph

Article in Clinical pharmacology and therapeutics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
111citing papers in PubMed, 3 pooled it
14.5field-weighted citation impact, top 1% 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

111 citing papers in PubMed, 3 syntheses or guidelines pooled it, 170 citations in OpenAlex.

  1. Pooled it
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  16. New Personalized Medicine Model for Medication Management.Journal of personalized medicine · 2026
    Review
  17. Article
  18. Review
  19. Evaluating genotype-treatment interactions for high-risk medications in British general practice: a retrospective cohort study using UK Biobank.The British journal of general practice : the journal of the Royal College of General Practitioners · 2026
    Article
  20. Article

51 more citing papers are in PubMed but not listed here.

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

6 authors at 1 institution in 1 country.

Gregory McInnesBiomedical Informfatics Training Program, Stanford University, Stanford, California, USA.
Adam LavertuBiomedical Informfatics Training Program, Stanford University, Stanford, California, USA.
Katrin SangkuhlDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Teri E KleinDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Michelle Whirl-CarrilloDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Russ B AltmanDepartment of Biomedical Data Science, Stanford University, Stanford, California, USA.
Stanford University · US

Funding

THE STANFORD PHARMACOGENETICS KNOWLEDGE BASEU01GM061374 · NIGMS · STANFORD UNIVERSITY · PI ALTMAN, RUSS BIAGIO · 2000 to 2009
$24.0M
PharmGKB: pharmacogenomics discovery and implementationU24HG010615 · NHGRI · STANFORD UNIVERSITY · PI TERI Ellen KLEIN, Michelle Whirl-Carrillo · 2020 to 2026
$9.5M
Undergraduate Summer Research Experiences Support for Combining systems biology and structural biology to find new therapeuticsR01GM102365 · NIGMS · STANFORD UNIVERSITY · PI ALTMAN, RUSS BIAGIO · 2012 to 2021
$3.0M
Biomedical Data Science Graduate Training at StanfordT32LM012409 · NLM · STANFORD UNIVERSITY · PI PLEVRITIS, SYLVIA KATINA · 2016 to 2020
$1.5M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NHGRI NIH HHS U24 HG010615NIGMS NIH HHS R01 GM102365NIGMS NIH HHS U01 GM061374NLM NIH HHS T32 LM012409Stanford University
6 · The paper itself

Abstract

Pharmacogenetics (PGx) studies the influence of genetic variation on drug response. Clinically actionable associations inform guidelines created by the Clinical Pharmacogenetics Implementation Consortium (CPIC), but the broad impact of genetic variation on entire populations is not well understood. We analyzed PGx allele and phenotype frequencies for 487,409 participants in the UK Biobank, the largest PGx study to date. For 14 CPIC pharmacogenes known to influence human drug response, we find that 99.5% of individuals may have an atypical response to at least 1 drug; on average they may have an atypical response to 10.3 drugs. Nearly 24% of participants have been prescribed a drug for which they are predicted to have an atypical response. Non-European populations carry a greater frequency of variants that are predicted to be functionally deleterious; many of these are not captured by current PGx allele definitions. Strategies for detecting and interpreting rare variation will be critical for enabling broad application of pharmacogenetics.

Indexed as

Databases, FactualGene FrequencyGenetic VariationHaplotypesHumansPharmacogeneticsPharmacologyUnited KingdomWhite People

Identifiers

PMID33237584
PMCPMC8144239
OpenAlexW3108978936

What OpenQuestion holds

Textmetadata
LicenceTDM
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.