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Pharmacogenomics: DPYD and Prevention of Toxicity.
Clin Oncol (R Coll Radiol)
December 2024
NHS North West Genomic Medicine Service Alliance, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK; The Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, UK.
In 2020, the introduction of pre-emptive DPYD genotyping prior to the administration of systemic fluoropyrimidine-based chemotherapy represented one of the first widespread pharmacogenetic testing programmes to be applied nationally in the United Kingdom. Pharmacogenetic variants in the DPYD gene found in between 3 and 6% of the population are a recognised cause of primary DPD enzyme deficiency and associated increased risk of severe fluoropyrimidine toxicity [1]. Yet, the availability of testing globally is heterogeneous.
View Article and Find Full Text PDFPharmacogenetic Variations in Arab Populations: Clinical Implications for Personalized Drug Therapy.
Curr Rev Clin Exp Pharmacol
December 2024
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan.
Previous genetic studies on the genetic makeup of Arab populations highlight the diversity resulting from the distribution of specific genetic markers among various Arab descendant populations. Different genetic variants classified as clinically significant have been identified, impacting the response to administered drugs. Absorption, distribution, and excretion of drugs throughout the human body are managed through the actions of drug transporters and receptor proteins, which are expressed on the cellular membrane.
View Article and Find Full Text PDFClinical characteristics of EGFR-ctDNA shedders in EGFR-mutant NSCLC patients.
Transl Oncol
December 2024
Saint Camillus International University of Medical and Health Sciences, Rome, Italy; Direzione Scientifica Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy.
Background: Circulating tumor DNA (ctDNA) revolutionized the molecular diagnostics of lung cancer by enabling non-invasive, sensitive identification of actionable mutations. However, ctDNA analysis may be challenging due to tumor shedding variability, leading to false negative results. This study aims to understand the determinants for ctDNA shedding based on clinical characteristics of lung cancer patients, for a better interpretation of false negative results to be considered when ordering ctDNA analysis for clinical practice.
View Article and Find Full Text PDFEnhancing pharmacogenomic data accessibility and drug safety with large language models: a case study with Llama3.1.
Exp Biol Med (Maywood)
December 2024
Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, U.S. Food and Drug Administration, Jefferson, AR, United States.
Pharmacogenomics (PGx) holds the promise of personalizing medical treatments based on individual genetic profiles, thereby enhancing drug efficacy and safety. However, the current landscape of PGx research is hindered by fragmented data sources, time-consuming manual data extraction processes, and the need for comprehensive and up-to-date information. This study aims to address these challenges by evaluating the ability of Large Language Models (LLMs), specifically Llama3.
View Article and Find Full Text PDFClinical Pharmacogenetic Testing and Application: 2024 Updated Guidelines by the Korean Society of Laboratory Medicine.
Ann Lab Med
December 2024
Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
In the era of precision medicine, pharmacogenetics has substantial potential for addressing inter-individual variability in drug responses. Although pharmacogenetics has been a research focus for many years, resulting in the establishment of several formal guidelines, its clinical implementation remains limited to several gene-drug combinations in most countries, including Korea. The main causes of delayed implementation are technical challenges in genotyping and knowledge gaps among healthcare providers; therefore, clinical laboratories play a critical role in the timely implementation of pharmacogenetics.
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