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Molecular Genetics & Genomic Medicine May 2018Perceptions and challenges connecting Pharmacogenomics taught in classrooms and translationing it to advance pharmacy practice rotations and healthcare settings and...
Perceptions and challenges connecting Pharmacogenomics taught in classrooms and translationing it to advance pharmacy practice rotations and healthcare settings and potential areas of development.
Topics: Attitude of Health Personnel; Curriculum; Education, Pharmacy; Humans; Pharmaceutical Services; Pharmacogenetics; Pharmacy; Students, Pharmacy; Surveys and Questionnaires
PubMed: 29852540
DOI: 10.1002/mgg3.417 -
The Medical Clinics of North America Nov 2019Pharmacogenomics (PGx) is a powerful tool that can predict increased risks of adverse effects and sub-therapeutic response to medications. This article establishes the... (Review)
Review
Pharmacogenomics (PGx) is a powerful tool that can predict increased risks of adverse effects and sub-therapeutic response to medications. This article establishes the core principles necessary for a primary care provider to meaningfully and prudently use PGx testing. Key topics include in which patients PGx testing should be considered, how PGx tests are ordered, how the results are translated into clinical recommendations, and what further advancements are likely in the near future. This will provide clinicians with a foundational knowledge of PGx that can allow incorporation of this tool into their practice or support further personal investigation.
Topics: Drug-Related Side Effects and Adverse Reactions; Humans; Pharmacogenetics; Precision Medicine; Primary Health Care
PubMed: 31582008
DOI: 10.1016/j.mcna.2019.07.002 -
Mayo Clinic Proceedings Jan 2021Many practitioners who have not had pharmacogenomic education are required to apply pharmacogenomics to their practices. Although many aspects of pharmacogenomics are... (Review)
Review
Many practitioners who have not had pharmacogenomic education are required to apply pharmacogenomics to their practices. Although many aspects of pharmacogenomics are similar to traditional concepts of drug-drug interactions, there are some differences. We searched PubMed with the search terms pharmacogenomics and pharmacogenetics (January 1, 2005, through December 31, 2019) and selected articles that supported the application of pharmacogenomics to practice. For inclusion, we gave preference to national and international consortium guidelines for implementation of pharmacogenomics. We discuss special considerations important in the application of pharmacogenomics to assist clinicians with ordering, interpreting, and applying pharmacogenomics in their practices.
Topics: General Practitioners; Genetic Testing; Humans; Pharmacogenetics
PubMed: 33308868
DOI: 10.1016/j.mayocp.2020.03.011 -
Methods in Molecular Biology (Clifton,... 2022Historically genetics has not been considered when prescribing drugs for children. However, it is clear that genetics are not only an important determinant of disease in...
Historically genetics has not been considered when prescribing drugs for children. However, it is clear that genetics are not only an important determinant of disease in children but also of drug response for many important drugs that are core agents used in the therapy of common problems in children. Advances in therapy and in the ethical construct of children's research have made pharmacogenomic assessment for children much easier to pursue. It is likely that pharmacogenomics will become part of the therapeutic decision-making process for children, notably in areas such as childhood cancer where weighing benefits and risks of therapy is crucial.
Topics: Child; Humans; Neoplasms; Pharmacogenetics
PubMed: 36068477
DOI: 10.1007/978-1-0716-2573-6_20 -
Current Protocols Jul 2021Cardiovascular pharmacogenomics is the study and identification of genomic markers that are associated with variability in cardiovascular drug response, cardiovascular...
Cardiovascular pharmacogenomics is the study and identification of genomic markers that are associated with variability in cardiovascular drug response, cardiovascular drug-related outcomes, or cardiovascular drug-related adverse events. This overview presents an introduction and historical background to cardiovascular pharmacogenomics, and a protocol for designing a cardiovascular pharmacogenomics study. Important considerations are also included for constructing a cardiovascular pharmacogenomics phenotype, designing the replication or validation strategy, common statistical approaches, and how to put the results in context with the cardiovascular drug or cardiovascular disease under investigation. © 2021 Wiley Periodicals LLC. Basic Protocol: Designing a cardiovascular pharmacogenomics study.
Topics: Cardiovascular Agents; Cardiovascular Diseases; Humans; Pharmacogenetics; Pharmacogenomic Testing; Phenotype
PubMed: 34232575
DOI: 10.1002/cpz1.189 -
Clinical Laboratory Aug 2023Next-generation sequencing (NGS) methods have become more commonly performed in clinical and research laboratories. (Review)
Review
BACKGROUND
Next-generation sequencing (NGS) methods have become more commonly performed in clinical and research laboratories.
METHODS
This review summarizes the current laboratory NGS-based diagnostic approaches in pharmacogenomics including targeted multi-gene panel sequencing, whole-exome sequencing (WES), and whole-genome sequencing (WGS).
RESULTS
Clinical laboratories perform multiple non-uniform types of pharmacogenetic panels, which can reduce the overall number of single-gene tests to be more cost-efficient. Compared to the targeted multi-gene panels, which are not typically designed to detect novel variants, WES and WGS have a greater potential to identify secondary pharmacogenomic findings, which might be predictive for the pharmacotherapy outcome of different patient settings. WGS overcomes the limitations of WES enabling a more accurate exome-sequencing at appropriate coverage and the sequencing of non-coding regions. Different NGS-based study designs with different test strategies and study populations, varying sample sizes, and distinct analytical and interpretation procedures lead to different identification results of pharmacogenomic variants.
CONCLUSIONS
The rapid progress in gene sequencing technologies will overcome the clinical and laboratory challenges of WES and WGS. Further high throughput NGS-based pharmacogenomics studies in different populations and patient settings are necessary to expand knowledge about rare functional variants and to enhance translation in clinical practice.
Topics: Humans; Pharmacogenetics; High-Throughput Nucleotide Sequencing
PubMed: 37560847
DOI: 10.7754/Clin.Lab.2023.230103 -
Supportive Care in Cancer : Official... Dec 2022Studies suggest wide heterogeneity in pain management response. Improved methods of pain pharmacotherapy are urgently needed to improve clinical response and safety... (Review)
Review
Studies suggest wide heterogeneity in pain management response. Improved methods of pain pharmacotherapy are urgently needed to improve clinical response and safety profile of analgesics. The study or application of how genetics influence response to medications is called pharmacogenomics (PGx). PGx testing is a tool that may support more precise selection and dosing of pain medicines. PGx guidelines exist for drug-gene interactions with high levels of evidence and can be applied in clinical practice for more precise care in patients with cancer. The Clinical Pharmacogenetics Implementation Consortium (CPIC) is a publicly funded international consortium of experts who curate published PGx data and create peer-reviewed guidelines on how to translate PGx results into actionable prescribing decisions. Given the immense need to improve pain management, it is important to increase awareness and consider application of CPIC guidelines to pain management strategies. This commentary concisely describes how PGx can be used to aid in more precise applications of pain pharmacotherapy based on the CPIC guidelines.
Topics: Humans; Pharmacogenetics; Pain Management; Pain
PubMed: 36271058
DOI: 10.1007/s00520-022-07404-9 -
Advances in Experimental Medicine and... 2019The advances in technology has shifted healthcare from a "one size fits all" model to focus on personalized therapy. Understanding the relationship of genome variations... (Review)
Review
The advances in technology has shifted healthcare from a "one size fits all" model to focus on personalized therapy. Understanding the relationship of genome variations and its effect on drug response has led to individualized drug selection, maximizing drug efficacy and improving toxicity profile. The developments in pharmacogenomics has led to the discovery of predictive and prognostic biomarkers, and has transformed cancer research leading to the creation of pharmacogenomics databases. While challenges associated with the implementation of pharmacogenomics based medicine exist, integrating data amongst collaborative networks will be crucial for researchers to identify all the functional elements of the human genome sequence. Future advances in the area of pharmacogenomics research will eventually lead to the identification of the right therapeutic drug for the right patient.
Topics: Genome, Human; Humans; Neoplasms; Pharmacogenetics; Precision Medicine; Research Design
PubMed: 31713164
DOI: 10.1007/978-3-030-24100-1_4 -
Neuroscience Letters May 2020Neurodegenerative disorders (NDDs)(Alzheimer's disease, Parkinson's disease) represent major problems of health in developed countries, with important psychosocial... (Review)
Review
Neurodegenerative disorders (NDDs)(Alzheimer's disease, Parkinson's disease) represent major problems of health in developed countries, with important psychosocial burden for families and high cost for the society. NDDs share some common pathogenic mechanisms such as age-related decline, multiple genetic defects distributed across the genome, deposits of abnormal proteins in the brain, and diverse environmental risk factors. Patients with NDDs currently receive polypharmacy with a high risk for drug-drug interactions and severe adverse drug events. Pharmacogenomics accounts for 60-90% variability in drug pharmacokinetics and pharmacodynamics. Major determinants of the pharmacogenomic outcome include pathogenic, mechanistic, metabolic, transporter and pleiotropic genes. The expression of these genes is under regulatory control of the epigenetic machinery. Approximately, 80% of the Caucasian population is deficient in the metabolization of drugs due to polymorphisms in metabolic genes; consequently, less than 40% of patients respond appropriately to conventional drugs. The implementation of pharmacogenomic procedures in the clinical practice may help to optimize therapeutics in NDDs.
Topics: Alzheimer Disease; Animals; Antiparkinson Agents; Dopamine Agents; Humans; Parkinson Disease; Pharmacogenetics; Polymorphism, Genetic
PubMed: 30236877
DOI: 10.1016/j.neulet.2018.09.018 -
Genes Sep 2023Health equity means the opportunity for all people and populations to attain optimal health, and it requires intentional efforts to promote fairness in patient...
Health equity means the opportunity for all people and populations to attain optimal health, and it requires intentional efforts to promote fairness in patient treatments and outcomes. Pharmacogenomic variants are genetic differences associated with how patients respond to medications, and their presence can inform treatment decisions. In this perspective, we contend that the study of pharmacogenomic variation within and between human populations-population pharmacogenomics-can and should be leveraged in support of health equity. The key observation in support of this contention is that racial and ethnic groups exhibit pronounced differences in the frequencies of numerous pharmacogenomic variants, with direct implications for clinical practice. The use of race and ethnicity to stratify pharmacogenomic risk provides a means to avoid potential harm caused by biases introduced when treatment regimens do not consider genetic differences between population groups, particularly when majority group genetic profiles are assumed to hold for minority groups. We focus on the mitigation of adverse drug reactions as an area where population pharmacogenomics can have a direct and immediate impact on public health.
Topics: Humans; Pharmacogenetics; Health Equity; Ethnicity; Pharmacogenomic Variants; Minority Groups
PubMed: 37895188
DOI: 10.3390/genes14101840