Pharmacogenomics Tools for Precision Public Health and Lessons for Low- and Middle-Income Countries: A Scoping Review

Pharmacogenomics and Personalized Medicine, Год журнала: 2025, Номер Volume 18, С. 19 - 34

Опубликована: Янв. 1, 2025

Pharmacogenomics is the integration of genomics and pharmacology to optimize drug response reduce side effects. In terms personalized or individualized medicine, PGx defined as identification analysis specific genetic variants associated with particular treatments for each patient. Under a precision public health (PPH) approach, population-level data are analyzed generate strategies. The objective this study was conduct scoping review technological tools, examining their evolution, predominance high-income countries in development, gaps needs genomic advances low- middle-income (LMICs). This conducted accordance ScPRISMA guidelines. A search PubMed, Web Science Embase until January 2024. total 40 documents were selected, which revealed continuous evolution progressive development pharmacogenomic tools. tools developed come from countries, particularly United States, Canada, China, several European nations, where international collaboration has been essential maintain expand these have evolved keep pace rapid generation data. trend shows scarce LMICs, evidences need increase investment research infrastructure aspect capacities guarantee global accessibility boost PPH all populations.

Язык: Английский

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Polymorphisms and Pharmacogenomics of NQO2: The Past and the Future

Genes, Год журнала: 2024, Номер 15(1), С. 87 - 87

Опубликована: Янв. 10, 2024

The flavoenzyme N-ribosyldihydronicotinamide (NRH):quinone oxidoreductase 2 (NQO2) catalyzes two-electron reductions of quinones. NQO2 contributes to the metabolism biogenic and xenobiotic quinones, including a wide range antitumor drugs, with both toxifying detoxifying functions. Moreover, activity can be inhibited by several compounds, drugs phytochemicals such as flavonoids. may play important roles that go beyond quinone include regulation oxidative stress, inflammation, autophagy, implications in carcinogenesis neurodegeneration. is highly polymorphic gene allelic variants, insertions (I), deletions (D) single-nucleotide (SNP) polymorphisms located mainly promoter, but also other regulatory regions exons. This first systematic review literature reporting on variants risk factors degenerative diseases or drug adverse effects. In particular, hypomorphic 29 bp I alleles have been linked breast solid cancer susceptibility well interindividual variability response chemotherapy. On hand, hypermorphic were associated Parkinson’s Alzheimer’s disease. D promoter impact cognitive decline, alcoholism toxicity nervous system drugs. Future studies are required fill gaps research.

Язык: Английский

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Application of imaging photoplethysmography in surgical procedures: A review article

Asian Journal of Surgery, Год журнала: 2025, Номер unknown

Опубликована: Апрель 1, 2025

Язык: Английский

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Pharmacogenomic analysis and clinical annotation of 635 patients

Personalized Medicine, Год журнала: 2025, Номер unknown, С. 1 - 10

Опубликована: Апрель 17, 2025

In this study, we aimed to reveal the sequence analysis of 69 pharmacogenes in 635 patients and clinical explanation variants. Genomic DNA was isolated from peripheral blood patients. Next-Generation Sequence bioinformatic were performed identify pharmacogene Variants with annotation identified. Analysis a total identified 9485 The number distinct variants each gene 1409. Of these 1409 variants, registered PharmGKB 126. Among 126 PharmGKB, 26 that had direct association drug efficacy or toxicity. most common variant genes DPYD, CYP2C19, VKORC1,UGT1A1, RYR1 MTHFR. These 327 (51%) different individuals. Such high frequency critical points need for pharmacogenetic studies. results are extremely important terms determining dose according genomic status individuals receiving therapy preventing unnecessary health expenditures.

Язык: Английский

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Transforming Pharmacogenomics and CRISPR Gene Editing with the Power of Artificial Intelligence for Precision Medicine

Pharmaceutics, Год журнала: 2025, Номер 17(5), С. 555 - 555

Опубликована: Апрель 24, 2025

Background: Advancements in pharmacogenomics, artificial intelligence (AI), and CRISPR gene-editing technology are revolutionizing precision medicine by enabling highly individualized therapeutic strategies. Artificial intelligence-driven computational techniques improve biomarker discovery drug optimization while pharmacogenomics helps to identify genetic polymorphisms affecting metabolism, efficacy, toxicity. Genetically editing based on presents a precise method for changing gene expression repairing damaging mutations. This review explores the convergence of these three fields enhance improved medicine. Method: A methodical study current literature was performed effects response variability, intelligence, predictive modeling applications. Results: Driven allows clinicians classify patients select appropriate medications depending their DNA profiles. reduces side effect risk increases efficacy. Precision modifications made feasible therapy outcomes oncology, metabolic illnesses, neurological diseases, other fields. The integration streamlines genome-editing applications, lowers off-target effects, specificity. Notwithstanding advances, issues including biases, moral dilemmas, legal constraints still arise. Conclusions: synergy alters letting customized interventions. Clinically translating, however, hinges resolving data privacy concerns, assuring equitable access, strengthening systems. Future research should focus refining technologies, enhancing AI-driven developing guidelines applying tools going forward.

Язык: Английский

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Genetic Variations and Antibiotic-Related Adverse Events

Pharmaceuticals, Год журнала: 2024, Номер 17(3), С. 331 - 331

Опубликована: Март 2, 2024

Antibiotic-related adverse events are common in both adults and children, knowledge of the factors that favor development antibiotic-related is essential to limit their occurrence severity. Genetics can condition events, screening patients with supposed or demonstrated specific genetic mutations may reduce drug-related events. This narrative review discusses which variations influence risk conclusions be applied clinical practice. An analysis literature showed defined associations between very few that, at moment, none them have led implementation a systematic process for must treated given antibiotic order select those On other hand, most cases, more than one variation implicated determination this limitation planning screening. Moreover, presently, methods used establish whether patient carries “dangerous” mutation require too much time waiting result test deleterious urgently requiring therapy. Further studies needed definitively confirm responsible an increased well-defined event.

Язык: Английский

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Rerouting cardiovascular management following gastric bypass surgery: Dose optimization of carvedilol using population‐based analysis

British Journal of Clinical Pharmacology, Год журнала: 2024, Номер 90(9), С. 2223 - 2235

Опубликована: Июнь 9, 2024

Aims A population‐based pharmacokinetic (PK) modeling approach (PopPK) was used to investigate the impact of Roux‐en‐Y gastric bypass (RYGB) on PK ( R )‐ and S )‐carvedilol. We aimed optimize carvedilol dosing for these patients utilizing a pharmacokinetic/pharmacodynamic (PK/PD) link model. Methods PopPK models were developed data from 52 subjects, including nonobese, obese, post‐ RYGB who received rac ‐ orally. Covariate analysis included anthropometric laboratory data, history surgery, CYP2D6 CYP3A4 in vivo activity, relative intestinal abundance major drug‐ metabolizing enzymes transporters. direct effect inhibitory E max pharmacodynamic model linked simulate changes exercise‐ induced heart rate. Results 2‐compartmental with linear elimination parallel first‐order absorptions best described )‐carvedilol PK. led twofold reduction oral bioavailability compared nonoperated along delayed absorption both enantiomers. The ABCC2 mRNA expression increases time reach maximum plasma concentration. reduced exposure (AUC) (S)‐carvedilol post‐RYGB corresponded 33% decrease predicted area under curve (AUEC) 24‐hour β‐blocker response. Simulation results suggested that 50‐mg daily dose achieved comparable AUC AUEC 25‐mg subjects. Conclusion Integrated PK/PD indicated standard dosage regimens subjects do not provide equivalent β‐blocking activity patients. This study highlights importance personalized strategies attain desired therapeutic outcomes this patient cohort.

Язык: Английский

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The landscape of very important pharmacogenes variants and potential clinical relevance in the Chinese Jingpo population: a comparative study with worldwide populations

Cancer Chemotherapy and Pharmacology, Год журнала: 2024, Номер 93(5), С. 481 - 496

Опубликована: Фев. 1, 2024

Язык: Английский

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Exploring Polypharmacy and Drug Interactions in Geriatric Patients: A Cross-Sectional Study from India

Research Square (Research Square), Год журнала: 2024, Номер unknown

Опубликована: Июль 16, 2024

Background Polypharmacy and potential drug-drug interactions (pDDIs) present challenges in managing elderly individuals with multiple comorbidities. Understanding their prevalence associated factors is vital for enhancing medication safety therapeutic outcomes. Objective This study aimed to assess the of polypharmacy pDDIs among aged 60 years above at Yenepoya Medical College Hospital. Methods A prospective observational was conducted hospital's in-patient out-patient wards following ethics committee approval. Patient records were reviewed, prescriptions screened using Medscape UpToDate. SPSS 26.0 analyzed data identify patterns characterize pDDIs. Results Predominantly older adults participated (mean age approximately 70.25 years), notable prevalence, especially in-patients. Gender disparities evident, females receiving more medications on average (p = 0.036). Moderate (50%) most common various severity levels. Age correlated positively (r 0.897) prescribed medications, but categories showed no significant association drug > 0.05). However, a relationship existed between quantity interaction 4.77e-05). Conclusion The highlights individuals, emphasizing management. We found polypharmacy, particularly complex health conditions, observed pervasive nature moderate interactions.

Язык: Английский

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Evolution of toxicity testing platforms from 2D to advanced 3D bioprinting for safety assessment of drugs

Bioprinting, Год журнала: 2024, Номер 43, С. e00363 - e00363

Опубликована: Окт. 11, 2024

Язык: Английский

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