Evidence map›Paper›PMID 30191366›Full record

ArticleJournal of neural transmission (Vienna, Austria : 1996)2019

An analysis of allele, genotype and phenotype frequencies, actionable pharmacogenomic (PGx) variants and phenoconversion in 5408 Australian patients genotyped for CYP2D6, CYP2C19, CYP2C9 and VKORC1 genes.

Sam Mostafa, Carl M J Kirkpatrick, Keith Byron, Leslie Sheffield

Abstract read
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In one paragraph

Article in Journal of neural transmission (Vienna, Austria : 1996), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 1 pooled it
5.8field-weighted citation impact, top 4% 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

51 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.

  1. Pooled it
  2. Observational
  3. 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
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  15. The history and future of pharmacogenetics in Aotearoa/New Zealand.Journal of the Royal Society of New Zealand · 2025
    Review
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  18. Clinical effects of CYP2D6 phenoconversion in patients with psychosis.Journal of psychopharmacology (Oxford, England) · 2024
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  19. Article
  20. Review
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

4 authors at 1 institution in 1 country.

Sam MostafaCentre for Medicine Use and Safety, Monash University, Parkville, VIC, Australia. sam.mostafa@mydna.life.ORCID http://orcid.org/0000-0002-2317-3233
Carl M J KirkpatrickCentre for Medicine Use and Safety, Monash University, Parkville, VIC, Australia.
Keith ByronAustralian Clinical Labs, Clayton, VIC, Australia.
Leslie SheffieldMyDNA Life, Australia Limited, South Yarra, VIC, Australia.
Monash University · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Common polymorphisms in the genes encoding CYP2D6, CYP2C19, CYP2C9 and VKORC1 enzymes have an important role in predicting the occurrence of adverse effects and the efficacy of substrate medications. Drug-induced changes to the enzyme's phenotype, a process called phenoconversion, comprise another important factor contributing to interindividual variability in drug response. To date, there is lack of data on the frequency of these common polymorphisms and phenoconversion in the pan-ethnic Australian population. The aim of this study was to (1) describe allele, genotype and phenotype frequencies for CYP2D6, CYP2C19, CYP2C9 and VKORC1 enzymes in the pan-ethnic Australian population and (2) evaluate the frequency of actionable pharmacogenomic (PGx) variants and phenoconversion. Frequencies were calculated using the records of 5408 Australian patients (obtained from myDNA's propriety database), who were consecutively tested with the DNAdose PGx test which included the CYP2D6, CYP2C19, CYP2C9 and VKORC1 genes. In 2509 patients with listed medications at the time of testing, phenoconversion frequencies were calculated for CYP2D6, CYP2C19 and CYP2C9 enzymes. Allele, genotype and phenotype frequencies in our Australian patients correlated with a Caucasian population. Approximately 96% of patients had at least one actionable PGx variant. A five-fold increase in the frequency of poor metabolisers (PMs) for CYP2D6 and CYP2C19 was predicted by phenoconversion. Our study results indicate a high frequency of actionable PGx variants in our Australian population. With the addition of drug-induced phenoconversion, our results provide further support for the utilisation of PGx testing in clinical practice as another tool assisting prescribers in the application of personalised medicine.

Indexed as

Cytochrome P-450 CYP2C19Cytochrome P-450 CYP2C9Cytochrome P-450 CYP2D6Pharmacogenomic VariantsPrecision MedicineVitamin K Epoxide ReductasesAdolescentAdultAgedAged, 80 and overAustraliaChildChild, PreschoolDrug PrescriptionsDrug-Related Side Effects and Adverse ReactionsFemaleCYP2C19 protein, humanCytochrome P-450 CYP2C19Cytochrome P-450 CYP2C9Cytochrome P-450 CYP2D6Vitamin K Epoxide ReductasesVKORC1 protein, humanActionableCYP2C19CYP2C9CYP2D6PharmacogenomicPhenoconversionVKORC1

Identifiers

PMID30191366
OpenAlexW2889846990

What OpenQuestion holds

Textmetadata
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.