Pharmacogenetics and genomics最新文献

{"title":"Pharmacogenomic analysis of low-density lipoprotein receptor 3' untranslated region genetic variants influencing rosuvastatin efficacy in Chinese dyslipidemia patients.","authors":"Keke Wang, Yihua Zhu, Yan Tian, Jingli Qin, Zhuo Wang, Guoqiang Zhang, Luyan Wang, Yanwei Zhang, Hong Yuan, Ningling Sun, Songnian Hu, Yayu Ma","doi":"10.1097/FPC.0000000000000575","DOIUrl":"10.1097/FPC.0000000000000575","url":null,"abstract":"<p><strong>Objectives: </strong>Dyslipidemia is a crucial risk factor for atherosclerotic cardiovascular disease. Although rosuvastatin is widely used, treatment response varies significantly due to genetic variation. This study investigated the pharmacogenomic impact of low-density lipoprotein receptor (LDLR) 3' untranslated region (UTR) variants on rosuvastatin efficacy in a Chinese Han adult cohort with dyslipidemia.</p><p><strong>Methods: </strong>A cohort of 113 Chinese participants receiving 10 mg rosuvastatin daily was sequenced for LDLR 3'UTR variants. Haploview was used to assess linkage disequilibrium (LD) patterns and haplotype structures. Multivariate regression modeling was employed to assess the influence of genetic variants on therapeutic outcomes.</p><p><strong>Results: </strong>Seventeen LDLR 3'UTR variants were identified. A crosspopulation comparative assessment revealed significant variation in allele frequencies across distinct ethnic groups. Five variants (rs14158, rs2738466, rs5742911, rs17249057, and rs17249064) were in complete LD ( D ' = 1 and r2  = 1). CHANGE analysis revealed that rosuvastatin efficacy was significantly influenced by rs2738465, rs55903358, rs186461273, and rs751672818, while ANCOVA indicated that baseline triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and patient age, alongside rs2738467, rs143587805, and rs751672818 significantly impacted treatment response. Given the bias correction properties and well-established efficiency, results derived from ANCOVA were preferred. These findings were first reported, highlighting LDLR variants can be used as predictive markers for precision medicine for rosuvastatin in the Chinese population.</p><p><strong>Conclusions: </strong>These findings highlight the role of LDLR 3'UTR as a critical pharmacogenomic locus. Our results advance understanding of genetic predictors for personalized statin therapy.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"233-242"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12456195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001227","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":"The prevalence of pharmacogenetic testing in the United States.","authors":"Annika M Czizik, Hannah Burkett, Joshua C Black, Karilynn M Rockhill, Jennifer Jewell, Andrew A Monte","doi":"10.1097/FPC.0000000000000573","DOIUrl":"10.1097/FPC.0000000000000573","url":null,"abstract":"<p><p>It is unknown how many people in the US have had pharmacogenetic (PGx) testing and whether people want to be tested. We conducted a nationally representative survey of the general US adult population to determine the prevalence of adults that have had PGx testing using a validated confidential online survey, the Non-Medical Use of Prescription Drugs Program. A weighted logistic regression was used to test health characteristics associated with PGx testing and determine those who desire to be tested. The analysis included 29 146 individuals who completed the survey, which represents approximately 260 000 000 adults in the US. The prevalence of US adults who have been PGx tested is 6.6% [95% confidence interval (CI): 6.2-7.0]. Only 32.2% (95% CI: 31.5-32.9), an estimated 79 million individuals, desired PGx testing. Adults who had or want PGx testing were more likely to be female, have higher education, be students, current or former members of the military, use medications, and have a mental health disorder. The prevalence of adults who have been PGx tested remains low in the US. There are knowledge gaps about the benefits of PGx testing that must be bridged to increase implementation.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"221-225"},"PeriodicalIF":1.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144784956","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":"Association of genetic variation with irinotecan infusion reactions and severe toxicity.","authors":"Kelly I Nugent, Lyucheng Huang, Maisa Nazzal, Amy L Pasternak, Daniel L Hertz","doi":"10.1097/FPC.0000000000000574","DOIUrl":"10.1097/FPC.0000000000000574","url":null,"abstract":"<p><p>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. This was a retrospective study of patients receiving standard irinotecan doses (180 mg/m2) with available genetic and clinical data. The primary analysis was to investigate the impact of carboxylesterase (CES) genetic variation on irinotecan infusion-related ACS. Exploratory secondary analyses evaluated variation in CES1, CES2, UGT1A7, UGT1A9, ABCB1, ABCG2, ABCC2, and SLCO1B1 with severe toxicity, treatment modification, diarrhea, and neutropenia. Univariate associations with P less than 0.05 were adjusted for UGT1A1*28 and UGT1A1*6 genotype. A total of 93 patients were included in this analysis. CES1 variants were not associated with infusion-related ACS. In the exploratory analysis, CES1 rs3785161 AA was associated with an increased likelihood of severe irinotecan toxicity (37 vs. 16%; P = 0.034), and ABCG2 rs2231142 AA/AC was associated with an increased likelihood of severe neutropenia (33 vs. 8%; P = 0.017). CES1 and ABCG2 variants may increase the risk of irinotecan toxicity. Further studies are needed to validate these associations to justify prospective studies investigating the clinical benefits of genetics-guided irinotecan dosing.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":"35 8","pages":"226-231"},"PeriodicalIF":1.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144964011","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":"Inferring germline pharmacogenomics from tumor transcriptome.","authors":"Wenjian Yang, Gang Wu, Jeffery M Klco, Kim E Nichols, Sima Jeha, Hiroto Inaba, Ching-Hon Pui, Nickhill Bhakta, Ulrich Broeckel, Jun J Yang, Cyrine E Haidar","doi":"10.1097/FPC.0000000000000576","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000576","url":null,"abstract":"<p><strong>Objectives: </strong>Pharmacogenomic testing is rapidly becoming the standard of care in treating pediatric acute lymphoblastic leukemia (ALL). Risk classification of ALL can be performed through whole transcriptome sequencing (WTS) of diagnostic tumor samples. We evaluated the feasibility of inferring germline pharmacogenomic genotypes from the tumor transcriptome in ALL.</p><p><strong>Methods: </strong>Transcriptome and paired tumor-germline genome sequencing data were collected from clinical testing at St. Jude Children's Research Hospital. Genotypes for pharmacogenes that are actionable for medications used in the management of pediatric ALL (TPMT, NUDT15, and G6PD) were determined using a rule-based algorithm from transcriptome data. WTS-derived genotype calls were compared with germline genotypes obtained from whole genome sequencing (WGS) and clinical genotyping assays.</p><p><strong>Results: </strong>Among 650 patients with ALL, 36 (5.5%) patients had somatic copy number loss on chromosomes 6, 13, or X, where TPMT, NUDT15, and G6PD are located, respectively. For the remaining 614 patients, WTS provided thiopurine dosing guidance by calling both TPMT and NUDT15 diplotypes in 545 patients (83.8%). For G6PD, accurate genotyping was called for 367 male patients. We observed a greater than 99% concordance between tumor WTS and germline WGS diplotypes for all three genes.</p><p><strong>Conclusion: </strong>The leukemia transcriptome can be used to provide accurate genotyping calls for select germline pharmacogenes actionable in the treatment of pediatric ALL.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138280","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":"GLP1R and OCT1 variants modulate semaglutide and metformin response in type 2 diabetes.","authors":"Ivan Tourtourikov, Maria Kalinkova, Peter Ivanov, Rene Mileva-Popova, Radka Tafradjiiska-Hadjiolova, Teodora Handjieva-Darlenska, Tanya Kadiyska","doi":"10.1097/FPC.0000000000000577","DOIUrl":"https://doi.org/10.1097/FPC.0000000000000577","url":null,"abstract":"<p><strong>Background: </strong>Large consortia link variants in SLC22A1, SLC47A1, and GLP1R to antidiabetic response, yet few data confirm these effects in small real-world cohorts. We tested whether three common polymorphisms translate into measurable 3-month metabolic changes.</p><p><strong>Methods: </strong>Twenty-seven Bulgarian adults with type 2 diabetes [BMI ≥ 25 kg/m²; mean glycated hemoglobin (HbA1c): 8.3 ± 0.9%] received metformin XR 2000 mg (n = 17) or oral semaglutide 14 mg (n = 10). Sanger sequencing identified SLC22A1 rs628031, SLC47A1 rs2252281, and GLP1R rs6923761. Primary endpoints were 3-month changes (Δ) in weight and HbA1c; analysis of variance and ordinary least squares regression assessed genotype and treatment effects, as well as covariate-adjusted linear models of 3-month change (Δ).</p><p><strong>Results: </strong>Semaglutide produced greater weight loss than metformin [-6.5 ± 3.6 vs. -1.6 ± 2.5 kg; 95% confidence interval (CI) -7.6 to -2.2; P = 0.001] and larger BMI reduction (-2.0 ± 1.2 vs. -0.3 ± 0.9 kg/m²; P = 0.001). At an exploratory 10% FDR, only OCT1 rs34130495 dosage was associated with high-density lipoprotein (HDL) change in metformin-treated participants (β = +0.340 mmol/L per minor allele; P = 0.0026; q = 0.063; N = 16). GLP1R rs6923761 showed nominal trends for weight and BMI change in semaglutide users that did not survive FDR (P ≈ 0.06-0.07; q ≈ 0.29; N = 10).</p><p><strong>Conclusion: </strong>Semaglutide outperformed metformin for short-term weight loss. An HDL signal for OCT1 rs34130495 at an exploratory 10% FDR warrants replication. These hypothesis-generating data support the feasibility of genotype-guided studies in local clinical settings.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150438","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":"Association of VKORC1 and CYP2C9 gene polymorphisms with warfarin dose requirements in a representative Iranian population with cardiac valve replacement surgery.","authors":"Omid Maleki, Javad Gharechahi","doi":"10.1097/FPC.0000000000000571","DOIUrl":"10.1097/FPC.0000000000000571","url":null,"abstract":"<p><strong>Background: </strong>Warfarin is a commonly used oral anticoagulant for managing thromboembolic events after cardiac valve surgery. However, its optimal dose varies between individuals, often requiring trial and error to determine. This study aimed to investigate the association of polymorphisms in the CYP2C9 and VKORC1 genes with warfarin dose requirements in an Iranian population undergoing cardiac valve replacement.</p><p><strong>Materials and methods: </strong>A total of 140 patients recieving warfarin after cardiac valve replacement surgery were enrolled. Patients were monitored for their daily warfarin dose and international normalized ratio for at least 3 months post-surgery. Genotyping of CYP2C9 rs1057910 and VKORC1 rs2884737 was conducted using the tetra-primer amplification refractory mutation system -PCR method. Associations between genotypes and warfarin dose were analyzed using linear regression. A P value < 0.05 was considered statistically significant.</p><p><strong>Results: </strong>Patients with the heterozygous AC genotype of CYP2C9 rs1057910 required a significantly lower warfarin dose than those with the wild-type genotype ( P < 0.05). Although variation in warfarin dose was observed among patients with different VKORC1 rs2884737 genotypes, the association was not statistically significant. Including patients' demographic covariates in the regression model did not alter the observed genotype-dose associations.</p><p><strong>Conclusion: </strong>The CYP2C9 rs1057910 variant was significantly associated with daily warfarin dose requirements, suggesting its potential role in guiding idividualized dosing. In contrast, VKORC1 rs2884737 showed no significant association in this population, despite previous findings in other ethnic groups.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"214-220"},"PeriodicalIF":1.7,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144286077","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":"Microsampling with dried blood spots and mass spectrometry enables PK/PD profiling of responses to praziquantel in a Schistosoma haematobium- exposed Zimbabwean population.","authors":"David Twesigomwe, Grace Zdesenko, Takafira Mduluza, Gavin Blackburn, Richard Burchmore, Francisca Mutapi","doi":"10.1097/FPC.0000000000000572","DOIUrl":"10.1097/FPC.0000000000000572","url":null,"abstract":"<p><strong>Introduction: </strong>Praziquantel (PZQ) is commonly used to treat schistosomiasis; however, there is considerable interindividual variability in its efficacy, partly because of genetic variation. Data on this relationship is scarce across Africa - where schistosomiasis is prevalent. This study aimed to investigate the pharmacokinetic/pharmacodynamic and pharmacogenetic relationship between PZQ and its metabolites in a Zimbabwean population infected with Schistosoma haematobium by leveraging dried blood spots (DBS) and mass spectrometry (MS).</p><p><strong>Methods: </strong>DBS were obtained from 38 Zimbabwean participants on PZQ treatment at four-time points (0.5, 1.5, 2.5, and 4 h). We compared two extraction methods for recovering PZQ and its metabolites from the DBS cards and performed MS analysis to determine the concentrations. A random forest model was used to determine whether CYP1A2 , CYP2C9 , CYP2C19 , CYP2D6 , CYP3A4 , and CYP3A5 known variants were predictive of PZQ efficacy. The relationships between PZQ/metabolite concentration, metabolite ratio, and drug exposure with genotype were determined using a one-way analysis of variance.</p><p><strong>Results: </strong>An acetonitrile and water (4 : 1) mixture was determined to be optimal for recovering PZQ and its metabolites from the DBS cards. Subsequent MS analysis identified PZQ and six metabolite compounds - including phase 1 metabolites (-2H)-O-PZQ, O2-PZQ, and 4-OH-PZQ. Pooled MS sampling was comparable to individual MS sampling for determining pharmacokinetic profiles at the 2.5 and 4-h time points. The (-2H)-O-PZQ and O2-PZQ metabolites had significantly higher concentrations in participants with CYP2C9*1/*9 and *9/*9 versus those with CYP2C9*1/*1. CYP1A2 rs2069514-A (formerly *1C ) and rs762551-A ( CYP1A2*30 ; formerly *1F ) were observed to alter PZQ pharmacokinetic profiles; however, differences in analyte concentrations across the corresponding genotypes were NS.</p><p><strong>Conclusion: </strong>We show that low-cost microsampling using DBS and MS is feasible for detecting and quantifying PZQ and its metabolites. Furthermore, our pharmacogenetics analysis elucidates the impact of known cytochrome P450 variants on PZQ drug response in an African setting.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"197-213"},"PeriodicalIF":1.7,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289590","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 association of CYP enzymes with therapeutic propofol doses during mechanical ventilation.","authors":"Chanel Hsiang, Faisal Shakeel, Nicholas Farina, Ken Johnson, Daniel L Hertz","doi":"10.1097/FPC.0000000000000570","DOIUrl":"10.1097/FPC.0000000000000570","url":null,"abstract":"<p><p>Propofol is commonly used to sedate patients, but variations in how individuals metabolize the drug may affect dosing requirements. The objective of this study was to explore how genetic variations in CYP450 enzymes, particularly CYP2B6 , influence propofol metabolism in ICU patients receiving mechanical ventilation. Genetic variants of CYP2B6 , CYP2C9 , CYP2C19 , and CYP3A5 were collected from an institutional genetic data repository. Patients were dichotomized into low and high metabolic activity for each enzyme, and the mean weight- and time-normalized propofol dose administered was compared between groups via t test. There was no significant difference in average daily propofol dose between patients with low and high CYP2B6 activity (11 vs. 11 mg/kg/h, P  = 0.78), or any of the other CYP enzymes analyzed (all P  > 0.05). This study could not replicate previous studies indicating that patients carrying genetic variants with diminished CYP2B6 activity required lower propofol doses. Future studies with prospectively collected dosing and outcomes data, and measurement of plasma drug concentrations, may provide insights into personalized propofol dosing strategies.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"192-195"},"PeriodicalIF":1.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144151397","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":"Targeting cardiomyopathies associated with RASopathies: the role of mitogen-activated protein kinase inhibitors and therapeutic challenges.","authors":"Valentina Botia-Arciniegas, Natalia Jimenez-Cardozo, Juliana Lores","doi":"10.1097/FPC.0000000000000569","DOIUrl":"10.1097/FPC.0000000000000569","url":null,"abstract":"<p><p>RASopathies are rare genetic disorders caused by germline mutations in genes that regulate the RAS-mitogen-activated protein kinase (MAPK) pathway, a critical pathway involved in various cellular processes. Disruption of this pathway leads to multisystemic manifestations, including cardiomyopathies, a cause of high morbi-mortality. In response to the urgent need to improve survival in patients with RASopathies, alternative therapies, such as MAPK inhibitors traditionally used in cancer treatment, have been explored. This article reviews the current evidence on the use of these medications in treating cardiomyopathies associated with RASopathies. The search was conducted in the PubMed, Scopus, and Embase databases identifying nine studies reporting a total of 14 cases (nine with Noonan syndrome and five with Costello syndrome) where patients were successfully treated with trametinib, a MEK inhibitor. This therapeutic alternative broadens the horizons of opportunity for patients who often face limited options for enhancing their quality of life. Therefore, it is important to prioritize ongoing research in this field, focusing not only on further investigation on trametinib, but also exploring other potential therapeutic approaches.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"173-182"},"PeriodicalIF":1.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216520","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":"Feasibility of pharmacogenetic-guided selection of postoperative analgesics in gynecologic surgery patients: a prospective, randomized, pilot study.","authors":"Glenda Hoffecker, Lakeisha Mulugeta-Gordon, Victoria Wittner, Xingmei Wang, Stefan Gysler, Mary Deagostino-Kelly, Sony Tuteja","doi":"10.1097/FPC.0000000000000568","DOIUrl":"10.1097/FPC.0000000000000568","url":null,"abstract":"<p><strong>Objectives: </strong>Evaluate the feasibility of implementing a multigene pharmacogenetic (PGx) test and genotype-guided pharmacist recommendations into gynecologic perioperative workflows and fidelity to pharmacist genotype-guided postoperative analgesic recommendations.</p><p><strong>Methods: </strong>A randomized, prospective, open-label pilot study was conducted in gynecologic patients undergoing abdominal surgery. Participants received multigene PGx testing and were randomized to the PGx-guided group where results were returned to the electronic health record with pharmacist genotype-guided postoperative analgesic recommendations or usual care. Primary outcomes included the proportion of PGx results and pharmacist recommendations completed before surgery, the number of prescriptions in alignment with pharmacist recommendations, and the proportion of analgesics prescribed differing from usual care.</p><p><strong>Results: </strong>Of the 101 participants analyzed, all were female, 50 ± 14 years old, 49% were Black, 48% were White, 60% were treated by gynecologic oncology, and 76% underwent minimally invasive surgery. PGx results were returned to the genomics results portal a median of 7 (interquartile range: 6-9) business days after ordering the test. A majority (85%) of results were returned before the participant's surgery. Pharmacist genotype-guided analgesic recommendations were completed for 35 (73%) of the 48 participants in the PGx-guided group. And, 32 (91%) of the prescribed nonsteroidal anti-inflammatory drugs and 23 (66%) of the prescribed opioids matched the pharmacist's recommendations. Barriers included missed pharmacist notes when surgery dates were moved and low use of study-specific order set.</p><p><strong>Conclusion: </strong>PGx test results were available before most surgeries, but the pharmacist recommendations were not always followed. Enhanced implementation strategies will need to be developed in future genotype-guided protocols.</p>","PeriodicalId":19763,"journal":{"name":"Pharmacogenetics and genomics","volume":" ","pages":"183-191"},"PeriodicalIF":1.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041097","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}