ArticleThe Journal of molecular diagnostics : JMD2016
Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade.
Article in The Journal of molecular diagnostics : JMD, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 111 papers, 6 of them syntheses that pooled 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.
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
111 citing papers in PubMed, 6 syntheses or guidelines pooled it, 194 citations in OpenAlex.
- A systematic review of real-world evidence on the clinical relevance, characterization, and utility ofJournal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques · 2025Pooled it
- Cost Effectiveness of Pharmacogenetic Testing for Drugs with Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines: A Systematic Review.Clinical pharmacology and therapeutics · 2022Pooled it
- Pharmacogenetic interventions to improve outcomes in patients with multimorbidity or prescribed polypharmacy: a systematic review.The pharmacogenomics journal · 2022Pooled it
- An Analysis of Pharmacogenomic-Guided Pathways and Their Effect on Medication Changes and Hospital Admissions: A Systematic Review and Meta-Analysis.Frontiers in genetics · 2021Pooled it
- Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Impact of SLCO1B1 Pharmacogenetic Testing on Patient and Healthcare Outcomes: A Systematic Review.Clinical pharmacology and therapeutics · 2019Pooled it
- Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.Biochemia medica · 2026Review
- The potential of whole genome sequencing in pharmacogenetics: a retrospective health record study in rare disease patients.European journal of human genetics : EJHG · 2026Article
- Assessing the Frequency, Prescribing Patterns, and Characteristics of Patients Receiving Drugs with Pharmacogenomic (PGx) Guidelines Through an EMR: Follow-Up Analysis 5 Years Later.Pharmacy (Basel, Switzerland) · 2026Article
- 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 · 2026Article
- Use of medications with pharmacogenomic guidelines and adverse outcomes in hospitalised older patients: a retrospective cross-sectional study.The pharmacogenomics journal · 2026Article
- Prevalence of actionable pharmacogenomic variants in Brazilian patients with cancer.Frontiers in pharmacology · 2026Article
- Transforming Pharmacovigilance With Pharmacogenomics: Toward Personalized Risk Management.Clinical pharmacology and therapeutics · 2025Review
- Multi-Gene Pharmacogenomic Testing in a Community-Based Setting Is Feasible and Reduces Total Healthcare Costs.Clinical and translational science · 2025Article
- Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping.Scientific reports · 2025Article
- Navigating Pharmacogenomic Testing in Practice: Who to Test and When to Test.Clinical pharmacology and therapeutics · 2025Review
- Pharmacogenetic Testing in the Outpatient Setting in Switzerland: A Descriptive Study Using Swiss Claims Data.Drug safety · 2025Article
- Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.Annals of laboratory medicine · 2025Review
- The impact of coadministration of venlafaxine, citalopram or gabapentin on the metabolic activation of tamoxifen.Breast cancer research and treatment · 2025Article
- A feasibility study on implementing pre-emptive pharmacogenomics testing in outpatient clinics in Singapore (IMPT study).The pharmacogenomics journal · 2025Article
51 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 2 institutions in 1 country.
Funding
Abstract
Significant barriers, such as lack of professional guidelines, specialized training for interpretation of pharmacogenomics (PGx) data, and insufficient evidence to support clinical utility, prevent preemptive PGx testing from being widely clinically implemented. The current study, as a pilot project for the Right Drug, Right Dose, Right Time-Using Genomic Data to Individualize Treatment Protocol, was designed to evaluate the impact of preemptive PGx and to optimize the workflow in the clinic setting. We used an 84-gene next-generation sequencing panel that included SLCO1B1, CYP2C19, CYP2C9, and VKORC1 together with a custom-designed CYP2D6 testing cascade to genotype the 1013 subjects in laboratories approved by the Clinical Laboratory Improvement Act. Actionable PGx variants were placed in patient's electronic medical records where integrated clinical decision support rules alert providers when a relevant medication is ordered. The fraction of this cohort carrying actionable PGx variant(s) in individual genes ranged from 30% (SLCO1B1) to 79% (CYP2D6). When considering all five genes together, 99% of the subjects carried an actionable PGx variant(s) in at least one gene. Our study provides evidence in favor of preemptive PGx testing by identifying the risk of a variant being present in the population we studied.
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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.