Pharmacogenomics

Wake, Dyson T; Ilbawi, Nadim; Dunnenberger, Henry M.; Hulick, Peter J.

doi:10.1016/j.mcna.2019.07.002

Cited by 48 publications

(19 citation statements)

References 42 publications

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“…With the completion of the mapping of the human genome by the Human Genome Project in 2003 ( Collins et al, 1998 ), many new and exciting applications of genomics in the medical field have been made possible. One of these applications can be seen in pharmacogenomics, which allows specialists to assign medication and corresponding dosage based on the patient’s genetic markers ( Wake et al, 2019 ; Cecchin and Stocco, 2020 ). Another application can be seen in clustered regularly interspaced short palindromic repeats (CRISPR), which allows for efficient gene modification in a variety of organisms.…”

Section: Genomicsmentioning

confidence: 99%

“…Pharmacogenomics is the analysis of how an individual’s genome (their unique genetic makeup) influences their reaction to certain medications prescribed to them ( Wake et al, 2019 ; Karol and Yang, 2020 ). Protein-coding genes could influence the treatment of the drug either by breaking it down, absorbing it, or transporting the drug to desired (or undesired) locations ( Hoehe and Morris-Rosendahl, 2018 ; Venkatachalapathy et al, 2021 ).…”

Section: Pharmacogenomicsmentioning

confidence: 99%

“…Protein-coding genes could influence the treatment of the drug either by breaking it down, absorbing it, or transporting the drug to desired (or undesired) locations ( Hoehe and Morris-Rosendahl, 2018 ; Venkatachalapathy et al, 2021 ). Grouping people that have similar genetic variations will allow for better observation of how these groups may have a common treatment response to a given treatment ( Hoehe and Morris-Rosendahl, 2018 ; Wake et al, 2019b ; Karol and Yang, 2020 ; Venkatachalapathy et al, 2021 ). One example of pharmacogenomics is thiopurine methyltransferase testing to determine candidates for thiopurine drug therapy, which are used to treat autoimmune disorders like Crohn’s disease or rheumatoid arthritis ( Wake et al, 2019 ).…”

Section: Pharmacogenomicsmentioning

confidence: 99%

“…Pharmacogenomics has a multitude of applications for both precision medicine and related fields, allowing for the improvement of drugs in all stages of the process, from production to consumption ( Wake et al, 2019 ; Kim et al, 2021 ). One such application comes in the field of drug research and production, where information from pharmacogenomics practices can help assist in how best to research potential medicine for patients for certain diseases ( Penny and McHale, 2005 ; Payami and Factor, 2014 ; Relling and Evans, 2015 ).…”

Section: Pharmacogenomicsmentioning

confidence: 99%

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Artificial Intelligence, Healthcare, Clinical Genomics, and Pharmacogenomics Approaches in Precision Medicine

et al. 2022

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Precision medicine has greatly aided in improving health outcomes using earlier diagnosis and better prognosis for chronic diseases. It makes use of clinical data associated with the patient as well as their multi-omics/genomic data to reach a conclusion regarding how a physician should proceed with a specific treatment. Compared to the symptom-driven approach in medicine, precision medicine considers the critical fact that all patients do not react to the same treatment or medication in the same way. When considering the intersection of traditionally distinct arenas of medicine, that is, artificial intelligence, healthcare, clinical genomics, and pharmacogenomics—what ties them together is their impact on the development of precision medicine as a field and how they each contribute to patient-specific, rather than symptom-specific patient outcomes. This study discusses the impact and integration of these different fields in the scope of precision medicine and how they can be used in preventing and predicting acute or chronic diseases. Additionally, this study also discusses the advantages as well as the current challenges associated with artificial intelligence, healthcare, clinical genomics, and pharmacogenomics.

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Section: Genomicsmentioning

confidence: 99%

Section: Pharmacogenomicsmentioning

confidence: 99%

Section: Pharmacogenomicsmentioning

confidence: 99%

Section: Pharmacogenomicsmentioning

confidence: 99%

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Artificial Intelligence, Healthcare, Clinical Genomics, and Pharmacogenomics Approaches in Precision Medicine

et al. 2022

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“…Pharmacogenomics (PGx) is a subject to study the different reactions to drugs of the population, which are caused by genetic variation and polymorphisms, so as to predict the risk of adverse reactions to drugs (Wake et al, 2019). Genetic variations affect the expressions or activities of metabolic enzymes, drug receptors and transporters, thereby increasing the risk of adverse reactions or reducing therapeutic effects, so PGX can be used as a guidance of drug treatment in clinical.…”

Section: Introductionmentioning

confidence: 99%

Research Progress of Pharmacogenomics in Drug-Induced Liver Injury

et al. 2021

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Background: Drug-induced liver injury (DILI) is a common and serious adverse drug reaction with insufficient clinical diagnostic strategies and treatment methods. The only clinically well-received method is the Roussel UCLAF Causality Assessment Method scale, which can be applied to both individuals and prospective or retrospective studies. However, in severe cases, patients with DILI still would develop acute liver failure or even death. Pharmacogenomics, a powerful tool to achieve precision medicine, has been used to study the polymorphism of DILI related genes.Summary: We summarized the pathogenesis of DILI and findings on associated genes and variations with DILI, including but not limited to HLA genes, drug metabolizing enzymes, and transporters genes, and pointed out further fields for DILI related pharmacogenomics study to provide references for DILI clinical diagnosis and treatment.Key Messages: At present, most of the studies are mainly limited to CGS and GWAS, and there is still a long way to achieve clinical transformation. DNA methylation could be a new consideration, and ethnic differences and special populations also deserve attention.

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Flype: Software for enabling personalized medicine

Helseth

Gulukota

Miller

et al. 2020

American J of Med Genetics Pt C

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The advent of next generation DNA sequencing (NGS) has revolutionized clinical medicine by enabling wide‐spread testing for genomic anomalies and polymorphisms. With that explosion in testing, however, come several informatics challenges including managing large amounts of data, interpreting the results and providing clinical decision support. We present Flype, a web‐based bioinformatics platform built by a small group of bioinformaticians working in a community hospital setting, to address these challenges by allowing us to: (a) securely accept data from a variety of sources, (b) send orders to a variety of destinations, (c) perform secondary analysis and annotation of NGS data, (d) provide a central repository for all genomic variants, (e) assist with tertiary analysis and clinical interpretation, (f) send signed out data to our EHR as both PDF and discrete data elements, (g) allow population frequency analysis and (h) update variant annotation when literature knowledge evolves. We discuss the multiple use cases Flype supports such as (a) in‐house NGS tests, (b) in‐house pharmacogenomics (PGX) tests, (c) dramatic scale‐up of genomic testing using an external lab, (d) consumer genomics using two external partners, and (e) a variety of reporting tools. The source code for Flype is available upon request to the authors.

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Pharmacogenomics

Cited by 48 publications

References 42 publications

Artificial Intelligence, Healthcare, Clinical Genomics, and Pharmacogenomics Approaches in Precision Medicine

Artificial Intelligence, Healthcare, Clinical Genomics, and Pharmacogenomics Approaches in Precision Medicine

Research Progress of Pharmacogenomics in Drug-Induced Liver Injury

Flype: Software for enabling personalized medicine

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