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Genes Mar 2021Since the term "pharmacogenetics" was first published in the late 1950s by Friedrich Vogel, the field has evolved into genome-wide association studies identifying novel...
Since the term "pharmacogenetics" was first published in the late 1950s by Friedrich Vogel, the field has evolved into genome-wide association studies identifying novel variants associated with drug response phenotypes, international societies and consortia dedicated to pharmacogenomic research and clinical implementation, clinical practice guidelines, and the increasing availability of pharmacogenomic tests for healthcare providers in both hospital and primary care [...].
Topics: Genome-Wide Association Study; Humans; Pharmaceutical Preparations; Pharmacogenetics; Pharmacogenomic Testing; Precision Medicine
PubMed: 33801919
DOI: 10.3390/genes12030393 -
Pharmacogenomics May 2018This Perspective provides examples of current and future applications of deep learning in pharmacogenomics, including: identification of novel regulatory variants... (Review)
Review
This Perspective provides examples of current and future applications of deep learning in pharmacogenomics, including: identification of novel regulatory variants located in noncoding domains of the genome and their function as applied to pharmacoepigenomics; patient stratification from medical records; and the mechanistic prediction of drug response, targets and their interactions. Deep learning encapsulates a family of machine learning algorithms that has transformed many important subfields of artificial intelligence over the last decade, and has demonstrated breakthrough performance improvements on a wide range of tasks in biomedicine. We anticipate that in the future, deep learning will be widely used to predict personalized drug response and optimize medication selection and dosing, using knowledge extracted from large and complex molecular, epidemiological, clinical and demographic datasets.
Topics: Algorithms; Databases as Topic; Deep Learning; Humans; Models, Educational; Neural Networks, Computer; Pharmacogenetics
PubMed: 29697304
DOI: 10.2217/pgs-2018-0008 -
Pharmacotherapy Sep 2017Advancing the use of biomarkers and pharmacogenomics has been a key priority area for the U.S. Food and Drug Administration (FDA). The FDA offers prescribing... (Review)
Review
Advancing the use of biomarkers and pharmacogenomics has been a key priority area for the U.S. Food and Drug Administration (FDA). The FDA offers prescribing recommendations to manage ~100 gene-drug interactions, and multiple institutions around the United States and abroad have incorporated genomic testing into patient care. However, the penetration of pharmacogenomic testing remains incomplete. In this perspective, we summarize the evidence streams to support the clinical utility of pharmacogenomic testing and its transition into clinical practice.
Topics: Clinical Trials as Topic; Humans; Pharmacogenetics; Pharmacogenomic Testing; United States; United States Food and Drug Administration
PubMed: 28605049
DOI: 10.1002/phar.1971 -
Genes Sep 2021Pharmacogenomic studies allowed the reasons behind the different responses to treatments to be understood. Its clinical utility, in fact, is demonstrated by the... (Review)
Review
Pharmacogenomic studies allowed the reasons behind the different responses to treatments to be understood. Its clinical utility, in fact, is demonstrated by the reduction in adverse drug reaction incidence and the improvement of drug efficacy. Pharmacogenomics is an important tool that is able to improve the drug therapy of different disorders. In particular, this review will highlight the current pharmacogenomics knowledge about biologics and small-molecule treatments for psoriasis. To date, studies performed on genes involved in the metabolism of biological drugs (tumor necrosis factor inhibitors and cytokines inhibitors) and small molecules (apremilast, dimethyl fumarate, and tofacitinib) have provided conflicting results, and further investigations are necessary in order to establish a set of biomarkers to be introduced into clinical practice.
Topics: Antibodies, Monoclonal; Biological Products; Humans; Pharmaceutical Preparations; Pharmacogenetics; Psoriasis
PubMed: 34573380
DOI: 10.3390/genes12091398 -
American Journal of Pharmaceutical... May 2023As genomic medicine becomes increasingly complex, pharmacists need to work collaboratively with other healthcare professionals to provide genomics-based care. The core...
As genomic medicine becomes increasingly complex, pharmacists need to work collaboratively with other healthcare professionals to provide genomics-based care. The core pharmacist competencies in genomics were recently updated and mapped to the entrustable professional activities (EPAs). The new competency that is mapped to the "Interprofessional Team Member" EPA domain emphasizes the role of pharmacists as the pharmacogenomics experts in an interprofessional healthcare team. Interprofessional education (IPE) activities involving student pharmacists and students from other healthcare disciplines are crucial to prepare student pharmacists for a team-based approach to patient-centered care. This commentary discusses the pharmacogenomics-focused IPE activities implemented by 3 programs, the challenges faced, and the lessons learned. It also discusses strategies to develop pharmacogenomics-focused IPE activities based on existing resources. Developing pharmacogenomics-focused IPE activities will help prepare pharmacy graduates with the knowledge, skills, and attitudes to lead collaborative, interprofessional teams in the provision of pharmacogenomics-based care, consistent with the standards described in the genomics competencies for pharmacists.
Topics: Humans; Interprofessional Relations; Education, Pharmacy; Interprofessional Education; Pharmacogenetics; Pharmacy; Patient Care Team
PubMed: 37288681
DOI: 10.1016/j.ajpe.2022.10.001 -
Pharmacogenomics Nov 2020The pharmacists' role is potentially vital in the growing field of personalized medicine, and well-defined guidelines and knowledge that support this role need to be... (Review)
Review
The pharmacists' role is potentially vital in the growing field of personalized medicine, and well-defined guidelines and knowledge that support this role need to be established. To address the knowledge gap, over the past two decades, pharmacy schools have started providing pharmacogenomics-related courses, a field that overlaps with pharmacy and personalized medicine. Given the fact that pharmacists lead 50% of the Clinical Pharmacogenetics Implementation Consortium implementers' sites, their role can be particularly crucial to move forward the integration of precision medicine in clinical practice. Herein, we aim to identify the educational challenges for pharmacogenomics integration into clinical practice and their impact on pharmacists' knowledge and confidence, in addition to underscoring pharmacists' role in pharmacogenomics as a whole.
Topics: Health Knowledge, Attitudes, Practice; Humans; Pharmacists; Pharmacogenetics; Precision Medicine; Professional Role; Schools, Pharmacy
PubMed: 33118449
DOI: 10.2217/pgs-2020-0076 -
Clinical Genetics Mar 2018For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug-related toxicity. Despite the... (Review)
Review
For many years, a considerable number of patients with autoimmune diseases (ADs) have suffered from a lack of drug response and drug-related toxicity. Despite the emergence of new therapeutic options such as biological agents, patients continue to struggle with these problems. Unfortunately, new challenges, including the paradoxical effects of biological drugs, have complicated the situation. In recent decades, efforts have been made to predict drug response as well as drug-related side effects. Thanks to the many advances in genetics, evaluation of markers to predict drug response/toxicity before the initiation of treatment may be an avenue toward personalizing treatments. Implementing pharmacogenetics and pharmacogenomics in the clinic could improve clinical care; however, obstacles remain to effective personalized medicine for ADs. The present study attempted to clarify the concept of pharmacogenetics/pharmacogenomics for ADs. After an overview on the pathogenesis of the most common types of treatments, this paper focuses on pharmacogenetic studies related to the selected ADs. Bridging the gap between pharmacogenetics and personalized medicine is also discussed. Moreover, the advantages, disadvantages and recommendations related to making personalized medicine practical for ADs have been addressed.
Topics: Alleles; Autoimmune Diseases; Disease Management; Drug Discovery; Genetic Predisposition to Disease; Humans; Immunosuppressive Agents; Molecular Targeted Therapy; Pharmacogenetics; Pharmacogenomic Variants; Polymorphism, Single Nucleotide; Precision Medicine
PubMed: 29194620
DOI: 10.1111/cge.13186 -
Research in Social & Administrative... Jul 2022Pharmacogenomics (PGx) can provide valuable pharmacokinetic and pharmacodynamic information for the pharmacist's assessment of drug therapy, especially within medication... (Review)
Review
BACKGROUND
Pharmacogenomics (PGx) can provide valuable pharmacokinetic and pharmacodynamic information for the pharmacist's assessment of drug therapy, especially within medication therapy management (MTM) services. However, no review has comprehensively mapped the pharmacists' use of PGx in practice-based research. Doing so would allow future researchers, practitioners, and policy-makers to identify the ideal populations and settings for PGx implementation within the pharmacy.
OBJECTIVE
The purpose of this review is to identify the evidence to date of PGx use in pharmacy practice.
METHODS
A scoping review was conducted to find all studied non-oncologic pharmacy practices incorporating PGx testing. Search terms were applied to 5 databases and relevant journals. Characteristics of patients, pharmacy settings, genetic tests, and outcomes were summarized to determine models most likely to benefit patients.
RESULTS
The search identified 43 studies on the use of PGx by pharmacists published between 2007 and 2020. CYP2C19 testing with antiplatelets was the most studied model, found in both community and institutional settings. It also was the most actionable test: approximately 30% of patients have polymorphisms indicating a need for alternative antiplatelets, and identifying these patients can reduce morbidity and mortality by more than 50%. As technology shifts, broader studies using multi-gene panel tests within MTM demonstrate an approximate 50% decrease in emergency visits and hospitalizations in elderly polypharmacy patients. Clinical benefit or drug-gene interactions are also found in other cardiovascular, psychiatric, analgesic, and gastrointestinal indications. No evaluations of actual costs or of pharmacist prescribing within pharmacy-based PGx have been performed. Facilitators towards successful PGx implementation included pharmacist education, collaboration with other healthcare providers, and the use of clinical decision software.
CONCLUSIONS
Pharmacogenomic testing has demonstrated feasibility and improved medication outcomes in pharmacy practice, including in the community pharmacy. Further PGx research should be directed towards pharmacist prescribing, pharmacist education, and pharmacoeconomics.
Topics: Aged; Humans; Pharmaceutical Services; Pharmacies; Pharmacists; Pharmacogenetics; Pharmacy
PubMed: 34474980
DOI: 10.1016/j.sapharm.2021.08.009 -
The Pharmacogenomics Journal Apr 2021Buprenorphine is an effective treatment for opioid dependence; however, it demonstrates individual variability in efficacy. Pharmacogenomics may explain this drug... (Review)
Review
Buprenorphine is an effective treatment for opioid dependence; however, it demonstrates individual variability in efficacy. Pharmacogenomics may explain this drug response variability and could allow for tailored therapy on an individual basis. The Food and Drug Administration and the Clinical Pharmacogenomics Implementation Consortium have guidelines on pharmacogenomic testing for some opioids (e.g., codeine); however, no guidelines exist for the partial opioid agonist buprenorphine. Pharmacogenomic testing targets for buprenorphine include pharmacodynamic genes like the mu-opioid receptor (MOP receptor) and catechol-O-methyltransferase (COMT), as well as the pharmacokinetic genes like the CYP enzymes. In this review we identified genotypes in patients with opioid addiction receiving buprenorphine that may result in altered therapeutic dosing and increased rate of relapse. The OPRM1 A118G single nucleotide polymorphism (SNP rs1799971) gene variant encoding the N40D MOP receptor has been associated with variable efficacy and response to treatment in both adult and neonatal patients receiving buprenorphine for treatment of opioid withdrawal. An SNP associated with rs678849 of OPRD1, coding for the delta opioid receptor, was associated with opioid relapse as indicated by opioid positive urine drug screens; there was also sex specific SNP identified at rs581111 and rs529520 in the European American population. COMT variability, particularly in rs4680, has been associated with length of stay and need for opioid treatment in patients with neonatal abstinence syndrome. Variations of the pharmacokinetic gene for CYP3A4 showed that the ultrarapid metabolizer phenotype required higher doses of buprenorphine. Genotyping of patients may allow us to appropriately tailor buprenorphine therapy to individual patients and lead to improved patient outcomes; however, further research on the pharmacogenomics of buprenorphine is needed.
Topics: Animals; Buprenorphine; Genotype; Humans; Pharmacogenetics; Polymorphism, Single Nucleotide; Receptors, Opioid, mu
PubMed: 33154520
DOI: 10.1038/s41397-020-00198-1 -
Annual Review of Pharmacology and... Jan 2019Race and ancestry have long been associated with differential risk and outcomes to disease as well as responses to medications. These differences in drug response are... (Review)
Review
Race and ancestry have long been associated with differential risk and outcomes to disease as well as responses to medications. These differences in drug response are multifactorial with some portion associated with genomic variation. The field of pharmacogenomics aims to predict drug response in patients prior to medication administration and to uncover the biological underpinnings of drug response. The field of human genetics has long recognized that genetic variation differs in frequency between ancestral populations, with some single nucleotide polymorphisms found solely in one population. Thus far, most pharmacogenomic studies have focused on individuals of European and East Asian ancestry, resulting in a substantial disparity in the clinical utility of genetic prediction for drug response in US minority populations. In this review, we discuss the genetic factors that underlie variability to drug response and known pharmacogenomic associations and how these differ between populations, with an emphasis on the current knowledge in cardiovascular pharmacogenomics.
Topics: Cardiovascular Diseases; Humans; Pharmacogenetics; Polymorphism, Single Nucleotide; Population Groups; Race Factors
PubMed: 30296897
DOI: 10.1146/annurev-pharmtox-010818-021154