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Clinical Pharmacology and Therapeutics Sep 2021Clinical annotations are one of the most popular resources available on the Pharmacogenomics Knowledgebase (PharmGKB). Each clinical annotation summarizes the...
Clinical annotations are one of the most popular resources available on the Pharmacogenomics Knowledgebase (PharmGKB). Each clinical annotation summarizes the association between variant-drug pairs, shows relevant findings from the curated literature, and is assigned a level of evidence (LOE) to indicate the strength of support for that association. Evidence from the pharmacogenomic literature is curated into PharmGKB as variant annotations, which can be used to create new clinical annotations or added to existing clinical annotations. This means that the same clinical annotation can be worked on by multiple curators over time. As more evidence is curated into PharmGKB, the task of maintaining consistency when assessing all the available evidence and assigning an LOE becomes increasingly difficult. To remedy this, a scoring system has been developed to automate LOE assignment to clinical annotations. Variant annotations are scored according to certain attributes, including study size, reported P value, and whether the variant annotation supports or fails to find an association. Clinical guidelines or US Food and Drug Administration (FDA)-approved drug labels which give variant-specific prescribing guidance are also scored. The scores of all annotations attached to a clinical annotation are summed together to give a total score for the clinical annotation, which is used to calculate an LOE. Overall, the system increases transparency, consistency, and reproducibility in LOE assignment to clinical annotations. In combination with increased standardization of how clinical annotations are written, use of this scoring system helps to ensure that PharmGKB clinical annotations continue to be a robust source of pharmacogenomic information.
Topics: Databases, Genetic; Drug Labeling; Drug Prescriptions; Humans; Knowledge Bases; Pharmacogenetics; Precision Medicine; Prescription Drugs; Reproducibility of Results
PubMed: 34216021
DOI: 10.1002/cpt.2350 -
Current Opinion in Immunology Oct 2020In this review, we summarize recent published work interrogating the relationship between genetic variation or gene expression regulation across the genome and asthma or... (Review)
Review
In this review, we summarize recent published work interrogating the relationship between genetic variation or gene expression regulation across the genome and asthma or asthma treatment outcomes. This includes 11 genome-wide association studies of asthma phenotypes that collectively identified 64 novel loci; transcriptome-wide asthma association studies which identified genes involved in virus recognition, bacterial infection, lung tissue remodeling, eosinophilic and neutrophilic inflammation and genes in the chromosome 17q12 asthma susceptibility locus; and three epigenome-wide studies of asthma that had robust sample sizes and replicated findings. We also highlight pharmacogenomic studies of corticosteroids, bronchodilator response to albuterol and zileuton, although finding from these studies may still be preliminary due to their relatively small sample sizes and limited availability of replication cohorts.
Topics: Asthma; Genetic Variation; Humans; Pharmacogenetics
PubMed: 33171417
DOI: 10.1016/j.coi.2020.10.001 -
Clinical Pharmacology and Therapeutics Aug 2019
Topics: Biotransformation; Clinical Decision-Making; Drug Resistance; Drug-Related Side Effects and Adverse Reactions; Genetic Testing; Humans; Medication Therapy Management; Pharmacogenetics; Pharmacogenomic Variants; Precision Medicine; Reproducibility of Results
PubMed: 31355458
DOI: 10.1002/cpt.1511 -
British Journal of Clinical Pharmacology Jan 2022Pharmacogenomics is increasingly moving into mainstream clinical practice. Careful consideration must be paid to inclusion of diverse populations in research,... (Review)
Review
Pharmacogenomics is increasingly moving into mainstream clinical practice. Careful consideration must be paid to inclusion of diverse populations in research, translation and implementation, in the historical and social context of population stratification, to ensure that this leads to improvements in healthcare for all rather than increased health disparities. This review takes a broad and critical approach to the current role of diversity in pharmacogenomics and addresses potential pitfalls in order to raise awareness for prescribers. It also emphasizes evidence gaps and suggests approaches that may minimize negative consequences and promote health equality.
Topics: Health Promotion; Humans; Pharmacogenetics
PubMed: 34251046
DOI: 10.1111/bcp.14983 -
Clinical Pharmacology and Therapeutics Nov 2019Precision medicine is an emerging framework to maximize therapeutic benefit by modifying the treatment for individual patients based on their variations in demographic,...
Precision medicine is an emerging framework to maximize therapeutic benefit by modifying the treatment for individual patients based on their variations in demographic, genomic, and environmental factors. In particular, "Pharmacogenomics" and "Therapeutic Drug Monitoring" are key elements of individualized drug treatment, staging Clinical Pharmacology at the forefront of precision medicine.
Topics: Drug Monitoring; Environment; Humans; Pharmacogenetics; Pharmacology, Clinical; Precision Medicine; Socioeconomic Factors
PubMed: 31584718
DOI: 10.1002/cpt.1622 -
The Journal of Pediatrics Oct 2023
Topics: Infant, Newborn; Humans; Pharmacogenetics; Precision Medicine
PubMed: 37353149
DOI: 10.1016/j.jpeds.2023.113575 -
Pharmacogenomics Aug 2022
Topics: Child; Drug Development; Humans; Pharmacogenetics; Precision Medicine
PubMed: 36004680
DOI: 10.2217/pgs-2022-0105 -
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 -
Pharmacogenomics Jun 2021The Pharmacogenomics Access & Reimbursement Symposium, a landmark event presented by the Golden Helix Foundation and the Pharmacogenomics Access & Reimbursement... (Review)
Review
The Pharmacogenomics Access & Reimbursement Symposium, a landmark event presented by the Golden Helix Foundation and the Pharmacogenomics Access & Reimbursement Coalition, was a 1-day interactive meeting comprised of plenary keynotes from thought leaders across healthcare that focused on value-based strategies to improve patient access to personalized medicine. Stakeholders including patients, healthcare providers, industry, government agencies, payer organizations, health systems and health policy organizations convened to define opportunities to improve patient access to personalized medicine through best practices, successful reimbursement models, high quality economic evaluations and strategic alignment. Session topics included health technology assessment, health economics, health policy and value-based payment models and innovation.
Topics: Congresses as Topic; District of Columbia; Health Personnel; Health Services Accessibility; Humans; Insurance, Health, Reimbursement; Medical Assistance; Pharmacogenetics; Precision Medicine; Technology Assessment, Biomedical
PubMed: 34032472
DOI: 10.2217/pgs-2021-0016 -
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