Proposed method for economic evaluation based on basket trials: a case study of pembrolizumab.

Background: Precision medicine's emphasis on genetic profiles rather than diseases has reshaped oncology trials, prioritizing biomarker-specific approaches named basket trials. They involve heterogeneous populations, necessitating new economic evaluation methods, as traditional approaches fail to capture this diversity. This study introduced a methodology for economic evaluations based on basket trials, exemplified through pembrolizumab's cost-effectiveness analysis using Keynote-158 data as a case study and compared the results to disease-specific methods.

Bridging Genomics to Cardiology Clinical Practice: Artificial Intelligence in Optimizing Polygenic Risk Scores: A Systematic Review.

Despite advances in cardiovascular disease risk stratification, traditional risk prediction models often fail to identify high-risk individuals before adverse events occur, underscoring the need for more precise tools. Polygenic risk scores (PRS) quantify genetic susceptibility by aggregating genetic variants but face challenges in practice. This systematic review investigates how artificial intelligence (AI) and machine learning algorithms can optimize PRS (AI-optimized PRS) to improve cardiovascular disease prediction.

Analysis of Gene Variant Frequencies in Iranian Population.

Background: The cytochrome P450 (P450s or CYPs) enzyme family, particularly , significantly influences drug metabolism, handling approximately 20-25% of prescribed medications. Understanding genetic polymorphisms is crucial for personalized medicine and optimizing drug therapy in specific geographic and racial contexts. Given the complex nature of studying genotypes, this study aimed to assess the prevalence of rare star alleles, including rs267608319 (*31), rs1931013246 (*55), rs569439709 (*113), and rs747089665 (*135), within the Iranian population.

Genotype frequency analysis of rs2025804 genetic variant in Iranian population.

Objectives: The gene is a key focus in obesity research, with studies linking its polymorphisms to various diseases like polycystic ovarian syndrome and energy intake disorders. This study aims to investigate the prevalence of the rs2025804 variant within LEPR and its distribution among healthy individuals across diverse ethnic groups in Iran.

Methods: The frequency of the rs2025804 genotype in the gene was analyzed in 1142 healthy adults representing different ethnicities in Iran.

Allele frequency of genetic variations related to the gene-drug pair in a group of Iranian population.

Objectives: The efficacy and safety of drug treatments vary widely due to genetic variations. Pharmacogenomics investigates the impact of genetic variations on patient drug response. This research investigates the frequency of genetic variations in the Iranian population, comparing them with global data to provide insights into the pharmacogenomic approach in the Iranian population.

Pharmacogenetic DPYD allele variant frequencies: A comprehensive analysis across an ancestrally diverse Iranian population.

Background: Cancer treatment has improved over the past decades, but many cancer patients still experience adverse drug reactions (ADRs). Pharmacogenomics (PGx), known as personalized treatment, is a pillar of precision medicine that aims to optimize the efficacy and safety of medications by studying the germline variations. Germline variations in the DPYD lead to significant ADRs.

Cost-Effectiveness Analysis of Pharmacogenomics-Guided Versus Standard Dosing of Warfarin in Patients with Mechanical Prosthetic Heart Valve.

Background: Warfarin is the only approved anticoagulant for antithrombotic treatment in patients with mechanical prosthetic heart valves (MPHV). However, dosing warfarin is challenging due to its narrow therapeutic window and highly variable clinical outcomes. Both low and high doses of warfarin can lead to thrombotic and bleeding events, respectively, with these complications being more severe in individuals with sensitive genetic polymorphisms.

Association of common single-nucleotide polymorphism of HHEX with type 2 diabetes mellitus.

Background: Type 2 diabetes mellitus (T2DM) is a complex metabolic disease that occurs as a result of insulin resistance and low insulin production. T2DM involves many organ systems that include macro-vascular and micro-vascular complications. Several genome-wide association studies (GWAS) and candidate gene studies have suggested a large number of single nucleotide polymorphisms (SNPs) on several genes such as that were associated with T2DM susceptibility.

Association analysis between the VDR gene variants and type 2 diabetes.

Background: Type 2 diabetes mellitus (T2DM) is recognized as a complex metabolic which has affected the lives of millions of people around the world. Vitamin D receptor (VDR) gene polymorphisms have been suggested to be a vital contributor to the development of T2DM. However, the association between VDR gene polymorphisms and T2DM remains controversial.

Association of polymorphisms in TLR3 and TLR7 genes with susceptibility to COVID-19 among Iranian population: a retrospective case-control study.

Background And Objectives: Host genetic changes like single nucleotide polymorphisms (SNPs) are one of the main factors influencing susceptibility to viral infectious diseases. This study aimed to investigate the association between the host SNP of Toll-Like Receptor3 (TLR3) and Toll-Like Receptor7 (TLR7) genes involved in the immune system and susceptibility to COVID-19 in a sample of the Iranian population.

Materials And Methods: This retrospective case-control study evaluated 244 hospitalized COVID-19 patients as the case group and 156 suspected COVID-19 patients with mild signs as the control group.

Using ChatGPT to predict the future of personalized medicine.

Personalized medicine is a novel frontier in health care that is based on each person's unique genetic makeup. It represents an exciting opportunity to improve the future of individualized health care for all individuals. Pharmacogenomics, as the main part of personalized medicine, aims to optimize and create a more targeted treatment approach based on genetic variations in drug response.

Upfront DPYD Genotype-Guided Treatment for Fluoropyrimidine-Based Chemotherapy in Advanced and Metastatic Colorectal Cancer: A Cost-Effectiveness Analysis.

Objectives: Fluoropyrimidines are the most widely used chemotherapy drugs for advanced and metastatic colorectal cancer (CRC). Individuals with certain DPYD gene variants are exposed to an increased risk of severe fluoropyrimidine-related toxicities. This study aimed to evaluate the cost-effectiveness of preemptive DPYD genotyping to guide fluoropyrimidine therapy in patients with advanced or metastatic CRC.

Vascular Endothelial Growth Factor Genetic Variant Is Associated with in-Stent Restenosis after Percutaneous Coronary Intervention.

Background: In-stent restenosis (ISR) is an inevitable complication of percutaneous coronary intervention, with genetic factors thought to play a role in its pathogenesis. The vascular endothelial growth factor (VEGF) gene can have an inhibitory effect on ISR development. Accordingly, in the present study, we investigated the role of -2549 VEGF (insertion/deletion [I/D]) variants in ISR formation.

Haplotypic variants of COVID-19 related genes are associated with blood pressure and metabolites levels.

The genetic association of coronavirus disease 2019 (COVID-19) with its complications has not been fully understood. This study aimed to identify variants and haplotypes of candidate genes implicated in COVID-19 related traits by combining the literature review and pathway analysis. To explore such genes, the protein-protein interactions and relevant pathways of COVID-19-associated genes were assessed.

COVID-19 anti-vaccine attitude and hesitancy.

Unlabelled: High vaccination rates are required around the world to create herd immunity and terminate the current COVID-19 pandemic growth. With the steady rise in COVID-19 vaccine supplies, hesitancy and rejection to be vaccinated has become a problem worldwide for large vaccine coverage. Understanding the causes of vaccine avoidance or hesitancy can help to increase vaccination intentions in the general population.

A scoping review on patient heterogeneity in economic evaluations of precision medicine based on basket trials.

Introduction: Considerable challenges in the economic evaluation of precision medicines have been mentioned in previous studies. However, they have not addressed how an economic assessment would be conducted based on basket trials (novel studies for evaluation of precision medicine effects) in which the included populations have specific biomarkers and various cancers. Since basket trial populations have remarkable heterogeneity, this study aims to investigate the concept of heterogeneity and specific method(s) for considering it in economic evaluations through guidelines and studies that could be applicable in economic evaluation based on basket trials.

VDR gene polymorphisms are associated with the increased susceptibility to COVID-19 among iranian population: A case-control study.

Coronavirus disease 2019 (COVID-19) is an infectious disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), but the pathogenesis is unclear. Host genetic background is one of the main factors influencing the patients' susceptibility to several viral infectious diseases. This study aimed to investigate the association between host genetic polymorphisms of two genes, including vitamin D receptor (VDR) and vitamin D binding protein (DBP), and susceptibility to COVID-19 in a sample of the Iranian population.

The vitamin D receptor gene variants, ApaI, TaqI, BsmI, and FokI in diabetic foot ulcer and their association with oxidative stress.

Introduction: To date, numerous disorders have been linked to vitamin D deficiency. Several lines of evidence indicate a relationship between vitamin D deficiency and the risk of developing type 2 diabetes. It has been postulated that vitamin D may influence insulin activity, which can predispose individuals to develop type 2 diabetes.

Breast cancer in the era of precision medicine.

Breast cancer is a heterogeneous disorder with different molecular subtypes and biological characteristics for which there are diverse therapeutic approaches and clinical outcomes specific to any molecular subtype. It is a global health concern due to a lack of efficient therapy regimens that might be used for all disease subtypes. Therefore, treatment customization for each patient depending on molecular characteristics should be considered.

Effects of the and common variant on sulfonylurea response in type 2 diabetes mellitus patients: a preliminary pharmacogenetic study.

Background: Type 2 diabetes mellitus (T2DM) is a common chronic condition characterized by high blood glucose levels which is caused by genetic and environmental factors. Currently, pharmacogenomics (PGx) is anticipated to enable the development of personalized treatment in a wide range of health issues. Sulfonylureas (SFUs) are among the oral anti-diabetic drugs that are very popular due to their low cost.

Influence of cytotoxic T lymphocyte antigen 4 genetic variants on acute rejection in kidney transplant patients: precision medicine perspective.

Background: The most effective and common treatment for end-stage renal disease is kidney transplantation.The personalized approach to kidney transplantation, which utilizes precision medicine principles, determines distinctive genomics characteristics of candidates/recipients that must be taken into account. may be a suitable candidate gene for studying allograft rejection.

Artificial intelligence perspective in the future of endocrine diseases.

In recent years, artificial intelligence (AI) shows promising results in the diagnosis, prediction, and management of diseases. The move from handwritten medical notes to electronic health records and a huge number of digital data commenced in the era of big data in medicine. AI can improve physician performance and help better clinical decision making which is called augmented intelligence.

Genomic medicine on the frontier of precision medicine.

Genomic medicine has created a great deal of hope since the completion of the Human Genome Project (HGP). Genomic medicine promises disease prevention and early diagnosis in the context of precision medicine. Precision medicine as a scientific discipline has introduced as an evolution in medicine.