Evidence map›Paper›PMID 39789831›Full record

ArticleClinical pharmacology and therapeutics2025

Return of Clinically Actionable Pharmacogenetic Results From Molecular Tumor Board DNA Sequencing Data: Workflow and Estimated Costs.

Hyunwoo Koo, Tayler B Smith, John T Callaghan, Wilberforce Osei, Steven M Bray, Emma M Tillman, Mya T Tran, Christopher A Fausel, Bryan P Schneider, Tyler Shugg and 1 more

Abstract read
In one paragraph

Article in Clinical pharmacology and therapeutics, 2025. 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

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

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

11 authors.

Hyunwoo KooDivision of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID 0000-0002-7232-1511
Tayler B SmithDivision of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
John T CallaghanDivision of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID 0000-0001-7851-5651
Wilberforce OseiDivision of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Steven M BrayLifeOmic, Inc., Indianapolis, Indiana, USA.
Emma M TillmanDivision of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID 0000-0001-8019-9811
Mya T TranIndiana University Health, Indianapolis, Indiana, USA.ORCID 0000-0001-6697-5992
Christopher A FauselIndiana University Health, Indianapolis, Indiana, USA.
Bryan P SchneiderDivision of Hematology and Oncology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Tyler ShuggDivision of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID 0000-0002-5784-3565
Todd C SkaarDivision of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Funding

Investigation of the Immune-Mediated Drug-Drug Interaction Potential of Immune Checkpoint InhibitorsK23GM147805 · NIGMS · INDIANA UNIVERSITY INDIANAPOLIS · PI Tyler A Shugg · 2022 to 2026
$836k
NIGMS NIH HHS K23 GM147805NIGMS NIH HHS L30 GM151735
6 · The paper itself

Abstract

Pharmacogenetic testing can prevent severe toxicities from several oncology drug therapies; it also has the potential to improve the outcomes from supportive care drugs. Paired tumor and germline sequencing is increasingly common in oncology practice; these include sequencing of pharmacogenes, but the germline pharmacogenetic variants are rarely included in the clinical reports, despite many being clinically actionable. We established an informatics workflow to evaluate the clinical sequencing results for pharmacogenetic variants. We used the Aldy computational tool, which we have previously shown to determine the variant alleles in 14 pharmacogenes in clinical sequencing data with >99% accuracy, to identify pharmacogenetic variants in the clinical whole exome sequencing from our molecular tumor board. Patients with genetic variants that are clinically actionable for their individual therapy programs, including both treatment and supportive care, are referred to a clinical pharmacogenetics testing laboratory for confirmation. Through an evaluation of our weekly informatics workflow, we determined it took approximately 3.25 hours to complete the analysis of the sequencing data from approximately 20 patients. Using a United States pharmacist's median salary, we estimated the incremental added cost of the process to be only ~$15 per patient. This adds only a minor increase to the patient's cost of testing and has the potential to improve the safety and efficacy of their treatment.

Indexed as

Antineoplastic AgentsNeoplasmsPharmacogeneticsPharmacogenomic TestingPharmacogenomic VariantsSequence Analysis, DNAExome SequencingHumansWorkflowAntineoplastic Agents

Identifiers

PMID39789831
PMCPMC11924161

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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.