We performed a retrospective cohort study to evaluate risk of antidepressant discontinuation as a function of CYP2C19 and CYP2D6 phenotype. Patients who participated in an elective genomic screening and had a diagnosis of depression or anxiety with a corresponding antidepressant were analyzed. This resulted in 5 808 patients comprising 8 571 antidepressant orders. Of the total...
Intensive care units (ICU) patients are highly vulnerable to inaccurate drug dosing. Pharmacogenomics (PGx) studies the role of inherited genetic variation in drug metabolism and dose efficacy. To assess the prevalence of PGx variants that may influence therapeutic effect in the ICU, we carried out whole genome sequencing (WGS) of 210 Qataris in ICU care at Hamad Medical...
Psoriatic arthritis (PsA) is a complex inflammatory disease characterised by a combination of cutaneous and musculoskeletal symptoms, which complicates both diagnosis and management. Despite advances in targeted therapy, the treatment of PsA remains challenging, with up to 40% of patients experiencing inadequate response. Predictive biomarkers may serve as valuable tools to help...
Pharmacogenetic (PGx) testing of cytochrome P450 (CYP) enzymes CYP2D6 and CYP2C19 is increasingly utilised to personalise psychopharmacological treatment, but clear criteria for patient selection are lacking. We developed and conducted a pilot evaluation of a clinical decision-making tool, the CYPRI (CYP Pharmacogenetic Risk Index), which uses routinely available clinical and...
Pharmacogenomics (PGx)-guided prescribing is a promising approach to reduce variability in drug response, although its cost-effectiveness remains uncertain. We performed a systematic review and meta-analysis evaluating the cost-effectiveness of PGx-guided prescribing compared to standard care in psychiatry. In January 2026, we searched MEDLINE, Embase and PsycINFO for studies...
Variants in cytochrome P450 enzymes are known risk factors for developing adverse drug reactions (ADR). Most antidepressants (AD) are simultaneously metabolized by major or minor pathway of CYP2C19 and CYP2D6, resulting in a complex interplay of metabolites. This study is one of the first to investigate and demonstrate the combined CYP 2C19/2D6 functional metabolic status as a...
Modest outcomes from pharmacogenomic (PGx) testing in depression may be influenced by low rates of actionable gene-drug interactions. This 12-week pilot pragmatic randomized clinical trial evaluated the effectiveness of selectively targeting PGx testing to depressed Veterans receiving psychiatric polypharmacy with an antidepressant on the Sanford Pharmacogenomics Panel. 60...
Pharmacogenomics (PGx) is a key component of precision medicine, yet most PGx studies exclude pregnant people and children. The VICE (Vanderbilt Integrated Center of Excellence)-MPRINT (Maternal and Pediatric Precision in Therapeutics): Maternal and Pediatric Pharmacogenetics Trial is a single-center, randomized control trial to assess how PGx testing and return of results...
The aim of this study was to elucidate cardiovascular prescriber access, uptake, and attitudes toward CYP2C19 and CYP2D6 genetic testing to guide prescribing of commonly used medications such as clopidogrel, antiarrhythmics, proton pump inhibitors, and antidepressants. A survey, designed in collaboration with the European Society of Cardiology (ESC) WG on Cardiovascular...
Circulating levels of uric acid are influenced by a complex mix of intrinsic and environmental factors, including genetics, diet, and drugs. We analyzed levels of uric acid in a recent phase 3 clinical trial of patients with bipolar mania treated with 24 mg/day of the antipsychotic iloperidone or placebo. Initial results revealed that iloperidone treatment was associated with...
Currently, pharmacogenetics relies on partially annotated star alleles, leaving novel variants and complex haplotypes uninterpretable. Computational scoring frameworks could overcome these limitations. Here, we comprehensively evaluated the ability of existing (CADD, FATHMM-XF, PROVEAN, MutationAssessor, SIFT, PhyloP100, APF, APF2) and novel (PharmGScore and PharmMLScore) variant...
Cytochrome P450 (CYP) enzymes metabolize 70–80% of therapeutic agents, yet regulatory variants affecting drug metabolism remain poorly characterized across populations. Although numerous studies have examined coding variants in pharmacogenes, comprehensive analysis of regulatory variation across tissues and ancestries is lacking. Expression quantitative trait loci (eQTLs) for 54...
This study aimed to assess the prevalence of the use of medications with pharmacogenomic guidelines upon hospital admission in patients aged 65 and over and evaluate its association with adverse outcomes, including length of stay, unplanned admissions, and repeat hospital admissions. A retrospective cross-sectional study was conducted using hospital admissions data from 2018–2019...
A survey was conducted to determine attitudes, knowledge, and educational needs of mental health professionals regarding pharmacogenomics. We recruited 128 clinicians working in mental health in England, and we assessed their experiences using an adapted version of the “U‐PGx Clinician’s Questionnaire”. Responding clinicians had positive attitudes towards pharmacogenomics testing...
Depression affects around 10% of the Swiss population. While SSRIs are commonly prescribed, only 30–40% of patients achieve remission. Pharmacogenetic (PGx) factors may explain part of this high rate of SSRI treatment failure. This study examined antidepressant (AD) switching among Swiss patients using escitalopram, focusing on whether they switched to ADs with PGx dosing...
Pharmacogenetics (PGx) is increasingly implemented in the adult population, but its potential in children remains uncertain. The aim of this study was to investigate PGx drug utilization in children in Switzerland, using Helsana claims data between 2017 and 2021. We identified 82 drugs with paediatric guideline annotations associated with variants in 24 genes from the...
Childhood cancer survivors (CCS) often suffer from cardiac disease (CD) after treatment that included anthracycline and radiotherapy involving the heart. However, the variability in CD occurrence cannot be explained solely by these treatments, suggesting the existence of genetic predisposition. We conducted a systematic review searching on Medline-PubMed and Scopus, to identify...
The serotonin transporter (SLC6A4) and the serotonin autoreceptor (HTR1A) are two of the most extensively studied genes in the field of psychiatry, and their variants have been implicated in antidepressant response, specifically with selective serotonin reuptake inhibitors (SSRIs) which are widely regarded as the first-line medications for depression and anxiety. Variants of...
Pharmacogenomic testing for CYP2C19 helps personalise clopidogrel therapy and reduces the risk of experiencing a secondary myocardial infarction in individuals with impaired CYP2C19 function. Routine testing, however, is uncommon and it is proposed that the key requirements and processes of testing services are poorly understood. This scoping review aimed to explore the...
Similarity between candidate drug targets and human proteins is commonly assessed to minimize the occurrence of side effects. Although numerous drugs have been found to disrupt the health of the human microbiome, no comprehensive comparison between established drug targets and the human microbiome metaproteome has yet been conducted. Therefore, herein, sequence and structure...
The pathogenesis of cancer is complicated, and different types of cancer often exhibit different gene mutations resulting in different omics profiles. The purpose of this study was to systematically identify cancer-specific biological pathways and potential cancer-targeting drugs. We collectively analyzed the transcriptomics and proteomics data from 16 common types of human...
Prediction of treatment response by genetic biomarkers has potential for clinical use and contributes to the understanding of pathophysiology and drug mechanism of action. The purpose of this study is to detect genetic biomarkers possibly associated with response to lurasidone, during the first four weeks of treatment. One-hundred and seventy-one acutely psychotic patients from...
Venetoclax (VEN) was the only Bcl-2 inhibitor approved yet and showed large differences in clinical efficacy. The aim of the study was to explore the relationships between the plasma concentration and efficacy of VEN, and identify potential influencing factors. A retrospective cohort study was conducted and a total of 76 trough (C0h) and 91 6 h post-dose plasma concentration (C6h...
Clinical and economic outcomes from a pharmacogenomics-enriched comprehensive medication management program were evaluated over 26 months in a self-insured U.S. employee population (n = 452 participants; n = 1500 controls) using propensity matched pre-post design with adjusted negative binomial and linear regression models. After adjusting for baseline covariates, program...