98%
921
2 minutes
20
Whole exome sequencing (WES) has the potential of identifying secondary findings that are predictive of poor pharmacotherapy outcomes. The purpose of this study was to investigate patients' wishes regarding the reporting of secondary pharmacogenomic findings. WES results (n = 106 patients) were retrospectively reviewed to determine the number of patients electing to receive secondary pharmacogenomic results. Phenotypes were assigned based on Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. The percent of patients with a predicted phenotype associated with a gene-based CPIC dosing recommendation was determined. Ninety-nine patients (93.4%) elected to receive secondary pharmacogenomic findings. For each gene-drug pair analyzed, the number of patients with an actionable phenotype ranged from two (2%) to 43 patients (43.4%). Combining all gene-drug pairs, 84 unique patients (84.8%) had an actionable phenotype. A prospective multidisciplinary practice model was developed for integrating secondary pharmacogenomic findings into clinical practice. Our model highlights a unique collaboration between physician-geneticists, pharmacists, and genetic counselors.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759733 | PMC |
http://dx.doi.org/10.1111/cts.12493 | DOI Listing |
Eur J Neurol
September 2025
Digital and Predictive Medicine, Pharmacology and Clinical Metabolic Toxicology-Headache Center and Drug Abuse-Laboratory of Clinical Pharmacology and Pharmacogenomics, AOU Policlinico di Modena, Modena, Italy.
Background: Migraine is associated with an increased cardiovascular risk, including hypertension. Anti-calcitonin gene related peptide (CGRP) monoclonal antibodies (mAbs) are effective preventive treatments, but concerns have been raised about their potential hypertensive effects. Herein, we assess the early changes in blood pressure (BP) during anti-CGRP mAbs treatment in patients with migraine using 24-h Holter monitoring.
View Article and Find Full Text PDFPharmacogenet Genomics
October 2025
Department of Clinical Pharmacy, University of Michigan College of Pharmacy, Ann Arbor, Michigan, USA.
Irinotecan treatment is often complicated by gastrointestinal, hematological, and infusion-related toxicities, the latter of which typically presents as acute cholinergic syndrome (ACS). While genetic variation in UGT1A1 increases toxicity risk, fewer studies have investigated variation in other genes. This study aimed to assess the impact of variation in other genes involved in irinotecan pharmacokinetics with irinotecan-related toxicity.
View Article and Find Full Text PDFPhysiol Res
August 2025
Department of Neurology, AGEL Hospital Ostrava-Vítkovice, Ostrava, Czech Republic.
Variation in response to clopidogrel represents a significant clinical challenge in patients with ischemic stroke. Genetic polymorphisms cytochrome P450 2C19 (CYP2C19) are a known cause of resistance to clopidogrel. Platelet microRNAs (miRNAs) can modulate the efficacy of antiplatelet therapy.
View Article and Find Full Text PDFPLoS One
August 2025
Medical Intensive Care Unit, University Medical Centre Maribor, Maribor, Slovenia.
Introduction: The main mechanism of hypotension in septic shock is persistent vasodilation secondary to vascular hyporeactivity despite high endogenous catecholamine levels and despite endogenous activation of the renin-angiotensin-aldosterone system. The classic stepwise approach involves initiation of norepinephrine, up-titration of the dosage to achieve a specified mean arterial pressure and moving to a second-line vasopressor if the patient remains refractory to norepinephrine. This approach often leads to prolonged states of hypoperfusion and high dose catecholamine exposure and is associated with poor clinical outcomes.
View Article and Find Full Text PDFBr J Clin Pharmacol
August 2025
Department of Clinical Pharmacy, St. Antonius Hospital, Utrecht/Nieuwegein, The Netherlands.
Aims: Several international guidelines recommend DPYD genotype-based dosing in patients treated with fluoropyrimidines. This study evaluates the incidences of severe fluoropyrimidine-related toxicity between wild-type patients and DPYD variant allele carriers in a real-world patient cohort.
Methods: This retrospective, observational cohort study was conducted in adult patients with a first fluoropyrimidine-based anticancer therapy.