ArticleThe Journal of molecular diagnostics : JMD2022
Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?
Article in The Journal of molecular diagnostics : JMD, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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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.
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.
Who cites it
22 citing papers in PubMed, 31 citations in OpenAlex.
- Trial
- Common genetic variants of the cardiac sodium channel alter patient response to class 1b antiarrhythmics.Journal of precision medicine (Amsterdam, Netherlands) · 2026Article
- Do Socio-Economic Determinants Influence DPYD Testing? A Real-World Study of 1478 Cancer Patients Receiving Fluoropyrimidine Chemotherapy.Medical sciences (Basel, Switzerland) · 2026Article
- Common Genetic Variants of The Cardiac Sodium Channel Alter Patient Response to Class 1b Antiarrhythmics.bioRxiv : the preprint server for biology · 2026Article
- Implementation of preemptive pharmacogenetic testing: progress, puzzles and priorities from an implementation science perspective.Frontiers in pharmacology · 2026Review
- Progress in Pharmacogenomics Implementation in the United States: Barrier Erosion and Remaining Challenges.Clinical pharmacology and therapeutics · 2025Review
- Expanding biobank pharmacogenomics through machine learning calls of structural variation.Genetics · 2025Article
- Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.Annals of laboratory medicine · 2025Review
- Review
- A call for increased inclusivity and global representation in pharmacogenetic testing.NPJ genomic medicine · 2024Article
- Comparing the clinical utility of pharmacogenomic genotyping and next generation sequencing in a military health system adult medicine clinic.Pharmacogenomics · 2024Article
- Clinical Implementation of Rare and NovelInternational journal of biological sciences · 2024Review
- Impact of sex on antidepressant discontinuation in groups of similar cytochrome P450 phenotypes.The mental health clinician · 2023Article
- PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.Clinical pharmacology and therapeutics · 2023Review
- Article
- A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.Epilepsia open · 2023Article
- Determination of the DuplicatedJournal of personalized medicine · 2023Article
- Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data.The pharmacogenomics journal · 2022Article
- Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2022Article
- Association between CYP metabolizer phenotypes and selective serotonin reuptake inhibitors induced weight gain: a retrospective cohort study.BMC medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
Clinical pharmacogenomic testing typically uses targeted genotyping, which only detects variants included in the test design and may vary among laboratories. To evaluate the potential patient impact of genotyping compared with sequencing, which can detect common and rare variants, an in silico targeted genotyping panel was developed based on the variants most commonly included in clinical tests and applied to a cohort of 10,030 participants who underwent sequencing for CYP1A2, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, DPYD, SLCO1B1, TPMT, UGT1A1, and VKORC1. The results of in silico targeted genotyping were compared with the clinically reported sequencing results. Of the 10,030 participants, 2780 (28%) had at least one potentially clinically relevant variant/allele identified by sequencing that would not have been detected in a standard targeted genotyping panel. The genes with the largest number of participants with variants only detected by sequencing were SLCO1B1, DPYD, and CYP2D6, which affected 13%, 6.3%, and 3.5% of participants, respectively. DPYD (112 variants) and CYP2D6 (103 variants) had the largest number of unique variants detected only by sequencing. Although targeted genotyping detects most clinically significant pharmacogenomic variants, sequencing-based approaches are necessary to detect rare variants that collectively affect many patients. However, efforts to establish pharmacogenomic variant classification systems and nomenclature to accommodate rare variants will be required to adopt sequencing-based pharmacogenomics.
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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 Socratic graph.