Evidence map›Paper›PMID 32506666›Full record

ArticleClinical and translational science2020

CYP2C19 Allele Frequencies in Over 2.2 Million Direct-to-Consumer Genetics Research Participants and the Potential Implication for Prescriptions in a Large Health System.

Yelena Ionova, James Ashenhurst, Jianan Zhan, Hoang Nhan, Cindy Kosinski, Bani Tamraz, Alison Chubb

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical and translational science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06210321 (Randomised Controlled Study of the Efficacy and Acceptability of a Pharmacogenetic Test in the Management of Patients Treated With Escitalopram.), which is not on this map. Cited by 51 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 3 pooled it
–field-weighted citation impact
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.

NCT06210321 nanot yet recruitingnot on this mapstarted 2025, after this paper: background citation

Randomised Controlled Study of the Efficacy and Acceptability of a Pharmacogenetic Test in the Management of Patients Treated With Escitalopram.

TypeinterventionalSponsorChantal CsajkaRan2025 to 2027Enrolled270ConditionsPharmacogenetic TestingArmsPrescription of escitalopram using pharmacogenetic testing
3 · Its place in the literature

Who cites it

51 citing papers in PubMed, 3 syntheses or guidelines pooled it.

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  6. Pharmacogenetic Influence on Stereoselective Steady-State Disposition of Bupropion.Drug metabolism and disposition: the biological fate of chemicals · 2024
    Trial
  7. Recent research progress on the mechanisms of clopidogrel resistance.European journal of clinical pharmacology · 2026
    Review
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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

7 authors.

Yelena IonovaSchool of Pharmacy, University of California, San Francisco, California, USA.
James Ashenhurst23andMe, Inc., Sunnyvale, California, USA.
Jianan Zhan23andMe, Inc., Sunnyvale, California, USA.
Hoang Nhan23andMe, Inc., Sunnyvale, California, USA.
Cindy Kosinski23andMe, Inc., Sunnyvale, California, USA.
Bani TamrazSchool of Pharmacy, University of California, San Francisco, California, USA.
Alison Chubb23andMe, Inc., Sunnyvale, California, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Understanding the prevalence of clinically relevant pharmacogenetic variants using large unselected populations is critical for gauging the potential clinical impact of widespread preemptive pharmacogenetic testing. To this end, we assessed the frequencies and ethnic distribution of the three most common CYP2C19 alleles (*2, *3, and *17) in 2.29 million direct-to-consumer genetics research participants (23andMe, Sunnyvale, CA). The overall frequencies of *2, *3, and *17 were 15.2%, 0.3%, and 20.4%, respectively, but varied by ethnicity. The most common variant diplotypes were *1/*17 at 26% and *1/*2 at 19.4%. The less common *2/*17, *17/*17, and *2/*2 genotypes occurred at 6.0%, 4.4%, and 2.5%, respectively. Overall, 58.3% of participants had at least one increased-function or no-function CYP2C19 allele. To better understand how this high frequency might impact a real patient population, we examined the prescription rates (Rx) of high-pharmacogenetic-risk medications metabolized by CYP2C19 using the University of California at San Francisco (UCSF) health system's anonymized database of over 1.25 million patients. Between 2012 and 2019, a total of 151,068 UCSF patients (15.8%) representing 5 self-reported ethnicities were prescribed one or more high-pharmacogenetic-risk CYP2C19 medications: proton pump inhibitors (145,243 Rx), three selective serotonin reuptake inhibitor antidepressants (54,463 Rx), clopidogrel (14,376 Rx), and voriconazole (2,303 Rx).

Indexed as

Gene FrequencyPharmacogenomic VariantsAdolescentAdultAgedAntidepressive AgentsCohort StudiesCytochrome P-450 CYP2C19Direct-To-Consumer Screening and TestingFemaleHumansMaleMiddle AgedPharmacogenomic TestingPlatelet Aggregation InhibitorsProton Pump InhibitorsAntidepressive AgentsCYP2C19 protein, humanCytochrome P-450 CYP2C19Platelet Aggregation InhibitorsProton Pump InhibitorsSelective Serotonin Reuptake Inhibitors

Identifiers

PMID32506666
PMCPMC7719394

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Registered trials

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.