Pharmacogenetics and genomics最新文献

{"title":"The potential effect and pathway of valsartan: genome-wide and phenome-wide association study from UK Biobank data.","authors":"Shengyin Zeng, Yaxin Li, Yucong Zhang, Yueqi Lu, Lei Ruan, Cuntai Zhang, Jianguo Zhang, Bangwei Chen, Tao Li","doi":"10.1097/FPC.0000000000000597","DOIUrl":"10.1097/FPC.0000000000000597","url":null,"abstract":"<p><strong>Purpose: </strong>Valsartan, an angiotensin II receptor blocker, is widely used for hypertension and heart failure. While its cardiovascular benefits are established, its broader pharmacological effects remain incompletely characterized. This study aimed to identify genetic variants associated with valsartan use and to systematically explore its potential effects and adverse events across a wide range of phenotypes.</p><p><strong>Methods: </strong>Using UK Biobank data, we selected participants of European ancestry prescribed valsartan as cases, compared with controls not prescribed any ARBs. A genome-wide association study (GWAS) was conducted to identify suggestive genetic variants associated with valsartan use. These variants were then used as instruments in a phenome-wide association study (PheWAS) to screen for associated traits. Mendelian randomization analyses, including inverse-variance weighted and pleiotropy-robust methods, were employed to assess potential causal relationships.</p><p><strong>Results: </strong>The GWAS identified 19 suggestive single nucleotide polymorphisms ( P  < 1 × 10 -5 ) near genes, including PREP , GCLC , and ZNF133 . The PheWAS analysis revealed associations with 14 phenotypes, including lower levels of total cholesterol ( β = -0.59) and low-density lipoprotein cholesterol (LDL-C) ( β = -0.56), and increased risk of cough (odds ratio = 1.67). Mendelian randomization provided genetic evidence consistent with potential causal effects of valsartan in lowering LDL-C ( β = -2.34 × 10 -3 ) and reducing the risk of transient cerebral ischemic attack.</p><p><strong>Conclusion: </strong>Our genetic-based study suggests valsartan use may be associated with lowered LDL-C and reduced risks of certain ischemic cardiovascular events. These findings generate novel hypotheses regarding the drug's pleiotropic effects and potential applications beyond hypertension management, which warrant further clinical investigation.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"134-142"},"PeriodicalIF":1.6,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13200868/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Knowledge, perception, and attitude toward clinical implementation of pharmacogenomics among healthcare professionals in Pakistan: a cross-sectional study.","authors":"Bushra Waheed, Asif Jan, Basmah Abdulaziz Albabtain, Rani Akbar, Nafees Ahmad, Tahir Muhammad, Muhammad Usman Ijaz","doi":"10.1097/FPC.0000000000000612","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000612","url":null,"abstract":"<p><strong>Background: </strong>As precision medicine advances, integrating pharmacogenomics (PGx) into routine practice requires coordinated efforts among healthcare professionals. This study evaluated the knowledge, attitudes, and perceptions of Pakistani physicians, nurses, and pharmacists toward PGx implementation.</p><p><strong>Methods: </strong>This cross-sectional, prospective, web-based study was carried out employing a self-administered questionnaire involving 1560 respondents across Pakistan.</p><p><strong>Results: </strong>The respondents comprised 70% males. Most respondents (95%) were in the age range of 20-40 years, and the majority held a bachelor's degree (94%). Pharmacists comprised the largest group (64%), followed by physicians (24%) and nurses (12%). Participants responded from academia (33%), healthcare settings (46%), industry (14%), and regulatory authorities (6.5%). Most (89%) lack exposure to PGx, and only 10% had PGx training. Sixty-one percent had under 5 years of experience. Only 12.8% demonstrated good knowledge, yet positive attitudes (66.6%) and perceptions (67%) predominated. Knowledge was not associated with attitude or perception but was significantly linked with training and experience. Training and experience were significantly tied to positive perceptions, with years of experience showing more consistent associations across domains.</p><p><strong>Conclusion: </strong>While Pakistani healthcare professionals hold positive attitudes toward PGx, baseline knowledge remains low. Training and experience are key drivers of readiness. There is an urgent need for structured training, professional workshops, and curriculum integration to support PGx adoption in Pakistan.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148387900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of CYP3A5 genotype on tacrolimus pharmacokinetics and clinical outcomes in pediatric patients with Henoch-Schönlein purpura nephritis.","authors":"Huiying Li, Na Li, Xiaoling Tang, Fashuang Li, Danyang Ren, Jing Zong, Caixia Tu, Linbo Li, Lilin Zhang, Shaochun Yu","doi":"10.1097/FPC.0000000000000604","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000604","url":null,"abstract":"<p><strong>Aim: </strong>This study aimed to evaluate the impact of CYP3A5 gene polymorphism on the pharmacokinetics, therapeutic efficacy, and safety of tacrolimus in pediatric patients with Henoch-Schönlein purpura nephritis (HSPN).</p><p><strong>Methods: </strong>This study used a retrospective observational design to investigate pediatric patients with HSPN treated with tacrolimus. The polymorphism at the CYP3A5 was detected using PCR technology. The concentration of tacrolimus was quantitatively determined by ultra-performance liquid chromatography. The study systematically analyzed the impact of CYP3A5 gene polymorphism on the pharmacokinetic parameters of tacrolimus (including trough concentration C0, dose D, and dose-corrected concentration C0/D), clinical efficacy, and adverse reactions.</p><p><strong>Results: </strong>The study enrolled 103 pediatric patients. Comparative analysis revealed that patients with CYP3A5*1/*1 or *1/*3 genotypes exhibited significantly lower tacrolimus C0 and C0/D at various time points when compared with CYP3A5*3/*3 genotype carriers. Furthermore, CYP3A5*1 expressers (CYP3A5*1/*1 and *1/*3) demonstrated markedly reduced tacrolimus C0 and C0/D levels across multiple time points relative to CYP3A5*3 nonexpressers (CYP3A5*3/*3). However, CYP3A5 genetic polymorphisms did not demonstrate significant associations with clinical efficacy or adverse reactions.</p><p><strong>Conclusion: </strong>The polymorphism of the CYP3A5 gene may provide information on the pharmacokinetics of tacrolimus in pediatric with HSPN, but its clinical relevance has not yet been demonstrated.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147988647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic polymorphisms in ABCB1 and CEP72 genes as pharmacogenetic markers in patients receiving vincristine-based chemotherapy: a preliminary Indian context exploratory study.","authors":"Ramya Sugumar, Harpreet Kaur, Latha M S, Jullius X Scott, Manickavasagam M","doi":"10.1097/FPC.0000000000000606","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000606","url":null,"abstract":"<p><strong>Introduction: </strong>Vincristine is limited by its adverse effect of peripheral neuropathy with only a few inconclusive reports of its genetic occurrence. Therefore, the present research work was intended to identify the distribution of rs1045642 polymorphism in ABCB1 gene and rs924607 polymorphism in CEP72 gene, and their association with clinically documented neurological adverse drug reactions to vincristine.</p><p><strong>Methods: </strong>Seventy-five children below 18 years diagnosed with acute lymphoblastic leukemia receiving vincristine were followed for 6 months and analyzed for correlation with vincristine-associated neuropathy.</p><p><strong>Results: </strong>Twenty of 75 patients were homozygous for the risk allele (TT at rs924607) of CEP72 genotype and 25 of 75 patients were homozygous for the risk allele (TT at rs1045642) of ABCB1 genotype. Among patients with the high-risk ABCB1 genotype (TT at rs1045642), 13 of 25 (52%) developed at least one episode of grade 1-3 neuropathy, and had a statistically significant 4.3 times risk of developing neurotoxicity in comparison to patients with the ABCB1 CC or CT genotypes [10 of 50 (20%) patients, odds ratio: 4.3, 95% confidence interval: 1.5-12.3; P = 0.0060]. The patients receiving average dose of vincristine of greater than or equal to 2 mg/m2 (58.3%) when compared to those receiving an average dose of less than 2 mg/m2 (25.4%) had 4.1 times risk of developing neurotoxicity (odds ratio: 4.1, 95% confidence interval: 1.1-14.8; P = 0.0304).</p><p><strong>Conclusion: </strong>This study emphasizes the significant association of ABCB1 genotype (TT at rs1045642) with vincristine-associated neuropathy and highlights the relevance of higher average doses of vincristine in causing neurotoxicity.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2026-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148252668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of genetic polymorphisms on the sulfation of dehydroepiandrosterone and 17-β estradiol by human cytosolic sulfotransferase SULT2B1a.","authors":"Eid Alatwi, Ahsan F Bairam","doi":"10.1097/FPC.0000000000000561","DOIUrl":"10.1097/FPC.0000000000000561","url":null,"abstract":"<p><strong>Background: </strong>Dehydroepiandrosterone (DHEA) is considered an endogenous steroid hormone precursor, and 17-ß estradiol (E2) is one of the estrogen steroid hormones. Of the 13 known human cytosolic sulfotransferases (SULTs), SULT2B1a has been shown to be expressed in steroid hormone-responsive tissues such as the prostate, ovary, and placenta, as well as the fetal brain. Previous studies have demonstrated that SULT2B1a is capable of sulfating 3β-hydroxysteroids such as DHEA and pregnenolone. The present study aimed to investigate the effects of human SULT2B1 single-nucleotide polymorphisms (SNPs) on the enzymatic characteristics of SULT2B1a allozymes in mediating the sulfation of DHEA and E2.</p><p><strong>Methods: </strong>To inspect the effects of SNPs of the SULT2B1 gene on the sulfation of DHEA and E2 by SULT2B1a allozymes, 13 recombinant SULT2B1a allozymes were produced, expressed, and purified using established procedures. Thirteen SULT 2B1a nonsynonymous missense coding SNPs (cSNPs) were selected among numerous identified human SULT 2B1a SNPs by a comprehensive database search. The corresponding cDNAs, packaged in pGEX-2TK expression vector, and encoding the selected 13 SULT2B1a allozymes, have been generated by performing site-directed mutagenesis. These were then bacterially expressed in BL21 E. coli cells and purified using glutathione-Sepharose affinity chromatography. The purified allozymes were tested for their ability to sulfonate DHEA and E2.</p><p><strong>Results: </strong>In terms of the kinetic parameters, the wild-type SULT2B1a exhibited higher enzyme affinity toward DHEA than with E2. In comparison with the wild-type SULT2B1a, the purified allozymes displayed differential sulfating activities toward DHEA and E2.</p><p><strong>Conclusion: </strong>Accordingly, these findings indicate an apparent effect of SULT2B1 cSNPs on the sulfating activities of SULT2B1a allozymes toward DHEA and E2, and may provide for a better understanding of the pharmacokinetics of DHEA and E2 in individuals with differing SULT2B1a genotypes.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"48-55"},"PeriodicalIF":1.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12846738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145452691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leveraging implementation science to enhance the adoption of DPYD testing.","authors":"Sony Tuteja, J Kevin Hicks, Larisa H Cavallari, Nihal El Rouby, D Max Smith, Jai N Patel, Daniel L Hertz","doi":"10.1097/FPC.0000000000000581","DOIUrl":"10.1097/FPC.0000000000000581","url":null,"abstract":"","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"80-82"},"PeriodicalIF":1.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145757163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"No interaction between genetic variants and DNA methylation of the ferrochelatase gene in relation to antituberculosis drug-induced liver injury.","authors":"Fei Wang, Meiling Zhang, Yu Wu, Jingru Cheng, Ruina Chen, Hongqiu Pan, Lihuan Lu, Xiaomin He, Honggang Yi, Shaowen Tang","doi":"10.1097/FPC.0000000000000583","DOIUrl":"10.1097/FPC.0000000000000583","url":null,"abstract":"<p><strong>Objective: </strong>The pathogenic mechanisms of antituberculosis drug-induced liver injury (AT-DILI) remain unclear. Isoniazid and rifampicin may lead to hepatic accumulation of protoporphyrin IX in which heme synthesis ferrochelatase (FECH), a key rate-limiting enzyme, potentially plays an important role. This study aimed to investigate the combined effects of FECH gene polymorphisms and promoter methylation on AT-DILI risk in the Eastern Chinese population.</p><p><strong>Methods: </strong>A 1 : 1 matched case-control study was conducted, detecting one CpG island in the FECH promoter and four single-nucleotide polymorphisms (SNPs). A multivariate conditional logistic regression was used to estimate the association between genotypes and the risk of AT-DILI by the odds ratios (OR) with 95% confidence intervals (CIs). Additive and multiplicative interactions between methylation status and SNPs were further analyzed: additive interactions via the relative excess risk due to interaction (RERI) with 95% CIs, and multiplicative interactions by incorporating methylation-SNP product terms into regression models.</p><p><strong>Results: </strong>Overall, 182 cases and 182 controls were included. Neither FECH promoter methylation (adjusted OR: 0.978, 95% CI: 0.408-1.560, P  = 0.509) nor the four SNPs showed individual associations with AT-DILI risk ( P  > 0.05). Crossover analyses revealed no significant genotype-methylation interactions ( P  > 0.05). Both additive (rs17063905 RERI: -0.556, P  = 0.691) and multiplicative interaction models (rs17063905, OR: 0.723, P  = 0.615) demonstrated no synergistic effects between methylation and polymorphisms.</p><p><strong>Conclusion: </strong>This research finds no significant association between FECH promoter methylation status in the CpG island, polymorphisms, or their interactions and the risk of AT-DILI.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"71-79"},"PeriodicalIF":1.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145534476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacogenomics-guided personalized medicine in a clinical setting: real-world data.","authors":"Jiayi Liang, Lianne Brand, Rikje Ruiter, Pieter W Smit, Cornelis Niels F Vos, Joris J B van der Vlugt, Ismaïl Aarab, Jesse J Swen, Lisanne L Krens, Tessa M Bosch","doi":"10.1097/FPC.0000000000000584","DOIUrl":"10.1097/FPC.0000000000000584","url":null,"abstract":"<p><strong>Background: </strong>Pharmacogenetic testing plays a key role in personalized pharmacotherapy and improving treatment outcomes; however, its benefit in clinical hyperpolypharmacy (≥ 10 chronic drugs) remains uncertain.</p><p><strong>Objective: </strong>This study assessed the impact of extensive pharmacogenetic testing in hyperpolypharmacy patients. The primary outcome was the number of actionable drug-gene interactions (DGIs) per patient; secondary outcomes included clinical recommendations, clinician adherence, and DGIs with potential for severe adverse events.</p><p><strong>Design: </strong>This intervention included 100 hyperpolypharmacy inpatients (≥ 10 drugs) from Maasstad Hospital internal ward and Antes psychiatry ward. Eligible patients (≥ 18 years) underwent a 14-gene pharmacogenetic panel test. A multidisciplinary team reviewed drug-gene interactions (DGIs), evaluated medical records, and implemented monitoring or medication adjustments as needed.</p><p><strong>Results: </strong>An average of 4.7 (interquartile range: 4.0-5.5) actionable variants in the tested pharmacogenes per patient was identified, resulting in at least one DGI in 46% of the patients, with an average of 0.6 DGI per patient. After evaluation by the multidisciplinary team, 12 out of 64 DGIs (19%) led to recommendations for interventions, with an adherence rate of 67%. In 5% of patients, the identified DGI could potentially be associated with a higher risk of hospitalization or mortality.</p><p><strong>Conclusion: </strong>Systematic pharmacogenetic panel testing in clinical hyperpolypharmacy patients identified at least one DGI in 46% of the patients. Of these DGIs, 19% led to a recommendation for intervention. This study demonstrates that pharmacogenetic panel testing holds the potential to optimize pharmacotherapy in clinical hyperpolypharmacy patients.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"56-62"},"PeriodicalIF":1.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12846737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145588556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacogenomics of commonly used intravenous anesthetics.","authors":"Nayla Kassab, Joseph Abourjeili, Mary Joe Eid, Christian K Raphael","doi":"10.1097/FPC.0000000000000582","DOIUrl":"10.1097/FPC.0000000000000582","url":null,"abstract":"<p><p>Pharmacogenomics (PGx) is a scientific field that aims to understand how an individual's genetic code regulates drug metabolism and response. The response to many anesthetic drugs varies widely among patients due to many factors including, but not limited to, age, gender, and comorbidities. However, PGx contributes to this variability, particularly regarding adverse drug reactions. This review explores the influence of PGx on five commonly used induction agents in anesthesia: propofol, midazolam, ketamine, etomidate, and thiopental. Propofol metabolism is significantly affected by polymorphisms in CYP2B6, CYP2C9, and UGT1A9, influencing both efficacy and toxicity. Midazolam's PGx is mainly mediated by variations in CYP3A4, CYP3A5, and UDP-glucuronosyltransferase enzymes, with implications for sedation depth and drug clearance. Ketamine response is modulated by polymorphisms in metabolic enzymes (e.g. CYP2B6), as well as neurobiological targets such as brain-derived neurotrophic factor and gamma-aminobutyric acid (GABA) receptors, particularly in psychiatric applications. Etomidate shows less studied but emerging PGx associations, including single-nucleotide polymorphisms in GABA receptor subunits and metabolic enzymes, which may affect both sedative depth and cardiovascular stability. Thiopental is a rapid-acting metabolite whose effect stems from GABA-A receptor potentiation; no studies have yet identified specific genetic polymorphisms influencing its action. Overall, PGx provides a promising avenue for tailoring anesthetic management to improve patient safety and outcomes. However, clinical integration remains limited due to practical and infrastructural barriers. This review highlights the potential and current limitations of pharmacogenomic-guided anesthesia, underscoring its relevance in the era of precision medicine.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"25-31"},"PeriodicalIF":1.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145820168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacogenetic testing versus standard prescribing of psychotropics for the treatment of severe mood disorders: A randomized controlled trial protocol.","authors":"Malcolm Hopwood, Angela Komiti, Melanie Hurley, Chad A Bousman","doi":"10.1097/FPC.0000000000000585","DOIUrl":"10.1097/FPC.0000000000000585","url":null,"abstract":"<p><strong>Background: </strong>Major depressive disorder (MDD) and bipolar disorder (BD) are common, disabling conditions. Despite associated morbidity and premature mortality, current treatments have modest efficacy and response to treatment highly variable. Contributing factors to variability in response include influence of common genetic variations in the pharmacokinetic and/or pharmacodynamic action of medications. As such, attention has turned toward the identification of genetic markers that could assist with determining who will respond or not to psychotropic treatment. Results of studies to date are promising but primarily have been small. This study aims to evaluate the efficacy of a pharmacogenetic (PGx)-based decision support tool among adults with MDD and BD.</p><p><strong>Methods: </strong>This single-site, single (rater) blinded, randomized controlled trial with two arms evaluates the 24-week efficacy of a PGx-based support tool for adults with MDD or BD. Participants are randomized to receive PGx testing or standard prescribing. Participants provide DNA samples at baseline, but only those (including clinicians) randomized to the former receive the results at the start of their study participation. It is not mandatory for clinicians to follow the test recommendations. Remission rate (primary outcome), change in depression symptoms, drop-out rate, medication adherence, and medication side effects (secondary outcomes) are assessed at 4-, 8-, 12-, and 24-week postbaseline by a blinded rater. Analyses will follow an intention-to-treat approach and use mixed models for repeated measures.</p><p><strong>Discussion: </strong>Treatment response to medication for severe mood disorders is highly variable and less than optimal. This trial will provide evidence as to whether a PGx-based support tool is an efficacious strategy to inform selection and dosing of pharmacotherapy among adults with severe mood disorders. Importantly, it will do so independently and with a larger sample size than previous studies.</p><p><strong>Trial registration: </strong>This trial is registered under the number ACTRN12621001374853 (11 Oct 2021).</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"63-70"},"PeriodicalIF":1.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145763534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}