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Genes Oct 2020Digital health (DH) is the use of digital technologies and data analytics to understand health-related behaviors and enhance personalized clinical care. DH is... (Review)
Review
Digital health (DH) is the use of digital technologies and data analytics to understand health-related behaviors and enhance personalized clinical care. DH is increasingly being used in clinical trials, and an important field that could potentially benefit from incorporating DH into trial design is pharmacogenetics. Prospective pharmacogenetic trials typically compare a standard care arm to a pharmacogenetic-guided therapeutic arm. These trials often require large sample sizes, are challenging to recruit into, lack patient diversity, and can have complicated workflows to deliver therapeutic interventions to both investigators and patients. Importantly, the use of DH technologies could mitigate these challenges and improve pharmacogenetic trial design and operation. Some DH use cases include (1) automatic electronic health record-based patient screening and recruitment; (2) interactive websites for participant engagement; (3) home- and tele-health visits for patient convenience (e.g., samples for lab tests, physical exams, medication administration); (4) healthcare apps to collect patient-reported outcomes, adverse events and concomitant medications, and to deliver therapeutic information to patients; and (5) wearable devices to collect vital signs, electrocardiograms, sleep quality, and other discrete clinical variables. Given that pharmacogenetic trials are inherently challenging to conduct, future pharmacogenetic utility studies should consider implementing DH technologies and trial methodologies into their design and operation.
Topics: Computational Biology; Humans; Medical Informatics; Pattern Recognition, Automated; Pharmacogenetics; Pharmacogenomic Testing; Precision Medicine; Telemedicine; Wearable Electronic Devices
PubMed: 33114567
DOI: 10.3390/genes11111261 -
Medicina Clinica Feb 2024
Topics: Humans; Pharmacogenetics; Precision Medicine
PubMed: 38142210
DOI: 10.1016/j.medcli.2023.11.008 -
Best Practice & Research. Clinical... Dec 2020Antiemetic prophylaxis for postoperative nausea and vomiting (PONV) - a frequent complication in the postoperative period - is routinely given to high-risk patients.... (Review)
Review
Antiemetic prophylaxis for postoperative nausea and vomiting (PONV) - a frequent complication in the postoperative period - is routinely given to high-risk patients. However, standard PONV risk models do not account for genetic factors, which have been shown to have a significant influence on PONV incidence and drug response. In this review, we describe the polymorphisms of various genes (serotonin, dopamine, cholinergic, etc.) and how pharmacogenomics is involved in the pathophysiology of PONV. This review also addresses how genetics is involved in today's clinical practice related to PONV and how it will change in the upcoming years as personalized medicine advances.
Topics: Antiemetics; Disease Management; Genetic Testing; Humans; Pharmacogenetics; Postoperative Nausea and Vomiting; Receptors, Dopamine; Receptors, Serotonin, 5-HT3; Serotonin 5-HT3 Receptor Antagonists
PubMed: 33288121
DOI: 10.1016/j.bpa.2020.05.002 -
Genes Sep 2022Since the beginning of pharmacology, several variations in responses to drugs have been recorded [...].
Since the beginning of pharmacology, several variations in responses to drugs have been recorded [...].
Topics: Humans; Pharmacogenetics
PubMed: 36140743
DOI: 10.3390/genes13091575 -
Clinical and Translational Science Jan 2021Interindividual variability in drug efficacy and toxicity is a major challenge in clinical practice. Variations in drug pharmacokinetics (PKs) and pharmacodynamics (PDs)... (Review)
Review
Interindividual variability in drug efficacy and toxicity is a major challenge in clinical practice. Variations in drug pharmacokinetics (PKs) and pharmacodynamics (PDs) can be, in part, explained by polymorphic variants in genes encoding drug metabolizing enzymes and transporters (absorption, distribution, metabolism, and excretion) or in genes encoding drug receptors. Pharmacogenomics (PGx) has allowed the identification of predictive biomarkers of drug PKs and PDs and the current knowledge of genome-disease and genome-drug interactions offers the opportunity to optimize tailored drug therapy. High-throughput PGx genotyping, from targeted to more comprehensive strategies, allows the identification of PK/PD genotypes to be developed as clinical predictive biomarkers. However, a biomarker needs a robust process of validation followed by clinical-grade assay development and must comply to stringent regulatory guidelines. We here discuss the methodological challenges and the emerging technological tools in PGx biomarker discovery and validation, at the crossroad among molecular genetics, bioinformatics, and clinical medicine.
Topics: Biomarkers, Pharmacological; Computational Biology; Drug Interactions; Feasibility Studies; Genome-Wide Association Study; Genotyping Techniques; High-Throughput Nucleotide Sequencing; Humans; Pharmacogenetics; Pharmacogenomic Testing; Pharmacogenomic Variants; Translational Research, Biomedical; Validation Studies as Topic
PubMed: 33089968
DOI: 10.1111/cts.12869 -
Pharmacogenomics Jun 2022
Topics: Genome-Wide Association Study; Humans; NFI Transcription Factors; Pharmacogenetics; Polymorphism, Single Nucleotide
PubMed: 35546341
DOI: 10.2217/pgs-2022-0054 -
Pharmacogenomics Nov 2022To assess knowledge and attitudes toward pharmacogenomics (PGx) of incoming doctoral pharmacy students, to evaluate the internal structure and reliability of the PGx...
To assess knowledge and attitudes toward pharmacogenomics (PGx) of incoming doctoral pharmacy students, to evaluate the internal structure and reliability of the PGx survey and to identify variables associated with the different responses. A PGx survey based on the core pharmacist competencies in PGx was created. Of 83.2% analyzable responses, 91% believed PGx is a useful tool and relevant to future practice but over 70% stated they lack confidence in clinical PGx knowledge. This 38-item PGx survey included three factors showing high reliability. Prior genetic/PGx testing and unsatisfactory medication experiences were associated with a more positive attitude toward PGx. The majority of students have positive attitudes toward PGx, but lack knowledge in genetic concepts and clinical PGx.
Topics: Humans; Students, Pharmacy; Pharmacogenetics; Reproducibility of Results; Pharmacists; Attitude
PubMed: 36314296
DOI: 10.2217/pgs-2022-0094 -
Therapie 2022The discovery of molecular alterations involved in oncogenesis is evolving rapidly and has led to the development of new innovative targeted therapies in oncology.... (Review)
Review
The discovery of molecular alterations involved in oncogenesis is evolving rapidly and has led to the development of new innovative targeted therapies in oncology. High-throughput sequencing techniques help to identify genomic targets and to provide predictive molecular biomarkers of response to guide alternative therapeutic strategies. Besides the emergence of these theranostic markers for the new targeted treatments, pharmacogenetic markers (corresponding to genetic variants existing in the constitutional DNA, i.e., the host genome) can help to optimize the use of chemotherapy. In this review, we present the current clinical applications of constitutional PG and the recent concepts and advances in pharmacogenomics, a rapidly evolving field that focuses on various molecular alterations identified on constitutional or somatic (tumor) genome.
Topics: Drug Prescriptions; Hematologic Neoplasms; Humans; Neoplasms; Pharmacogenetics; Precision Medicine
PubMed: 34922740
DOI: 10.1016/j.therap.2021.11.003 -
Pharmacogenomics Jul 2021Several healthcare organizations across Minnesota have developed formal pharmacogenomic (PGx) clinical programs to increase drug safety and effectiveness. Healthcare... (Review)
Review
Several healthcare organizations across Minnesota have developed formal pharmacogenomic (PGx) clinical programs to increase drug safety and effectiveness. Healthcare professional and student education is strong and there are multiple opportunities in the state for learners to gain workforce skills and develop advanced competency in PGx. Implementation planning is occurring at several organizations and others have incorporated structured utilization of PGx into routine workflows. Laboratory-based and translational PGx research in Minnesota has driven important discoveries in several therapeutic areas. This article reviews the state of PGx activities in Minnesota including educational programs, research, national consortia involvement, technology, clinical implementation and utilization and reimbursement, and outlines the challenges and opportunities in equitable implementation of these advances.
Topics: Biomedical Research; Education, Pharmacy, Graduate; Health Personnel; Humans; Minnesota; Pharmacogenetics; Pharmacogenomic Testing
PubMed: 34137665
DOI: 10.2217/pgs-2021-0058 -
Annual Review of Pharmacology and... Jan 2024The association of an individual's genetic makeup with their response to drugs is referred to as pharmacogenomics. By understanding the relationship between genetic... (Review)
Review
The association of an individual's genetic makeup with their response to drugs is referred to as pharmacogenomics. By understanding the relationship between genetic variants and drug efficacy or toxicity, we are able to optimize pharmacological therapy according to an individual's genotype. Pharmacogenomics research has historically suffered from bias and underrepresentation of people from certain ancestry groups and of the female sex. These biases can arise from factors such as drugs and indications studied, selection of study participants, and methods used to collect and analyze data. To examine the representation of biogeographical populations in pharmacogenomic data sets, we describe individuals involved in gene-drug response studies from PharmGKB, a leading repository of drug-gene annotations, and showcase, a gene that metabolizes approximately 25% of all prescribed drugs. We also show how the historical underrepresentation of females in clinical trials has led to significantly more adverse drug reactions in females than in males.
Topics: Male; Humans; Female; Sexism; Pharmacogenetics; Drug-Related Side Effects and Adverse Reactions
PubMed: 37450899
DOI: 10.1146/annurev-pharmtox-030823-111731