Evidence map›Paper›PMID 42824314›Full record

ArticleFrontiers in pharmacology2026

Population prevalence of high-risk pharmacogenetic configurations in a healthy older Australian reference cohort.

Kosar Hooshmand, Stephen Hughes, Sophie L Stocker, Andrew A Somogyi, Mandy L Ballinger, David M Thomas

Abstract read
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In one paragraph

Article in Frontiers in pharmacology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Kosar HooshmandCentre for Molecular Oncology, School of Biomedical Sciences, The University of New South Wales, Sydney, NSW, Australia.
Stephen HughesSydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Sophie L StockerSydney Pharmacy School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Andrew A SomogyiDiscipline of Pharmacology, College of Health, Adelaide University, Adelaide, SA, Australia.
Mandy L BallingerCentre for Molecular Oncology, School of Biomedical Sciences, The University of New South Wales, Sydney, NSW, Australia.
David M ThomasCentre for Molecular Oncology, School of Biomedical Sciences, The University of New South Wales, Sydney, NSW, Australia.

Funding

PROJECT 3: Applying Liquid Biopsy Technologies to Detect Clinical Response and Mechanisms of Resistance in the Treatment of LMSP50CA272170 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Elizabeth Demicco · 2022 to 2026
$13.3M
NCI NIH HHS P50 CA272170
6 · The paper itself

Abstract

Recent advances in pharmacogenomic guidelines, regulatory labelling, and clinical implementation are supporting broader adoption of pharmacogenetic testing. We analysed whole-genome sequencing data from 3,205 participants in the Medical Genome Reference Bank, a healthy older Australian reference cohort predominantly of European ancestry, to characterise established and novel pharmacogenetic variation. Overall, 1,303 participants (40.7%) carried at least one confirmed homozygous ClinPGx/PharmGKB Level 1A high-risk configuration. A further 399 participants (12.4%) carried at least one potential-trans, phase-unresolved configuration. After accounting for overlap, 1,566 participants (48.9%) had either a confirmed homozygous or potential-trans, phase-unresolved configuration, representing an upper-bound estimate of potential biallelic involvement rather than confirmed biallelic prevalence. Confirmed homozygous configurations occurred in two or more high-risk pharmacogenes in 255 participants (8.0%) and in three or more genes in 22 participants (0.7%); the corresponding upper-bound estimates were 377 (11.8%) and 45 (1.4%), respectively. None of 409 candidate potential-trans participant-gene configurations could be directly resolved as cis or trans from available phase information. A total of 140 novel predicted loss-of-function participant-gene category records were identified across the high-risk pharmacogene set. Within

Indexed as

ClinPGx/PharmGKBCPIChigh-risk pharmacogenetic variantsopioid responsepharmacogeneticswhole-genome sequencing

Identifiers

PMID42824314
PMCPMC13627787

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Registered trials

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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.