650 results match your criteria pgx

Global spectrum of population-specific common missense variation in cytochrome P450 pharmacogenes.

Hum Mutat 2021 Jun 21. Epub 2021 Jun 21.

Bioinformatics Institute, Agency for Science, Technology and Research (A*STAR), Singapore, 138671, Singapore.

Next generation sequencing technology has afforded discovery of many novel variants that are of significance to inheritable pharmacogenomics (PGx) traits but a large proportion of them have unknown consequences. These include missense variants resulting in single amino acid substitutions in cytochrome P450 (CYP) proteins that can impair enzyme function leading to altered drug efficacy and toxicity. While most unknown variants are rare, an overlooked minority are variants that are collectively rare but enriched in specific populations. Read More

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Pharmacogenomics education, research and clinical implementation in the state of Minnesota.

Pharmacogenomics 2021 Jun 17. Epub 2021 Jun 17.

Essentia Institute of Rural Health, Duluth, MN 55805, USA.

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. Read More

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Pharmacogenetics-guided advances in antipsychotic treatment.

Clin Pharmacol Ther 2021 Jun 15. Epub 2021 Jun 15.

Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.

Pharmacogenetics (PGx) research over the past two decades has produced extensive evidence for the influence of genetic factors on the efficacy and tolerability of antipsychotic treatment. However, the application of these findings to optimize treatment outcomes for patients in clinical practice has been limited. This paper presents a meta-review of key PGx findings related to antipsychotic response and common adverse effects, including antipsychotic-induced weight gain (AIWG), tardive dyskinesia (TD) and clozapine-induced agranulocytosis (CIAG), and highlights advances and challenges in clinical implementation. Read More

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Use of a Consultation Service Following Pharmacogenomic Testing in Psychiatry.

CNS Spectr 2021 Apr;26(2):179-180

Genomind, Inc., King of Prussia, PA, USA.

Background: There is a plethora of drugs available to psychiatrists for treatment of mental illness, which can vary in efficacy, tolerability, metabolic pathways and drug-drug interactions. Psychotropics are the second most commonly listed therapeutic class mentioned in the FDA's Table of Pharmacogenomic Biomarkers in Drug Labeling. Pharmacogenomic (PGx) assays are increasingly used in psychiatry to help select safe and appropriate medication for a variety of mental illnesses. Read More

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Determining Cost-Optimal Next-Generation Sequencing Panels for Rare Disease and Pharmacogenomics Testing.

Clin Chem 2021 Jun 13. Epub 2021 Jun 13.

Strand Life Sciences, Bengaluru, India.

Background: Multi-gene panel sequencing using next-generation sequencing (NGS) methods is a key tool for genomic medicine. However, with an estimated 140 000 genomic tests available, current system inefficiencies result in high genetic-testing costs. Reduced testing costs are needed to expand the availability of genomic medicine. Read More

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Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and European Society for Pharmacogenomics and Personalized Therapy.

J Mol Diagn 2021 Jun 9. Epub 2021 Jun 9.

The Pharmacogenomics (PGx) Working Group of the Clinical Practice Committee*, Association for Molecular Pathology (AMP), Rockville, MD; Department of Pathology and Laboratory Medicine and Department of Genetics, University of North Carolina, Chapel Hill, NC.

The goals of the Association for Molecular Pathology (AMP) Clinical Practice Committee's Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing and determine a minimum set of variants that should be included in clinical PGx genotyping assays. This document series provides recommendations for a minimum panel of variant alleles ("Tier 1") and an extended panel of variant alleles ("Tier 2") that will aid clinical laboratories when designing assays for PGx testing. The AMP PGx Working Group considered functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, as well as other technical considerations for PGx testing when developing these recommendations. Read More

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Analytical validation of a laboratory-development multigene pharmacogenetic assay.

Pharmacogenet Genomics 2021 Jun 9. Epub 2021 Jun 9.

Pharmacogenetic Laboratory, Genetics Department, Hospital Universitario La Paz Experimental Therapies and Novel Biomarkers in Cancer. IdiPAZ Clinical Pharmacology Department, School of Medicine, Hospital Universitario La Paz. IdiPAZ. Universidad Autónoma de Madrid Biostatistics Unit, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.

Objective: The implementation of pharmacogenetics (PGx) in clinical practice is an essential tool for personalized medicine. However, clinical laboratories must validate their procedures before being used to perform PGx studies in patients, in order to confirm that they are adequate for the intended purposes.

Methods: We designed a validation process for our in-house pharmacogenetic PCR-based method assay. Read More

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Physicians' Knowledge and Attitudes Regarding Point-of-Care Pharmacogenetic Testing: A Hospital-Based Cross-Sectional Study.

Pharmgenomics Pers Med 2021 1;14:655-665. Epub 2021 Jun 1.

Department of Public Health, Jordan University of Science and Technology, Irbid, 22110, Jordan.

Introduction: Pharmacogenetic testing (PGx) is a diagnostic technique used by physicians to determine the possible reactions of patients to drug treatment on the basis of their genetic makeup. The aim of this study was to determine the impact of physicians' awareness, attitudes, and sociodemographics on the adoption of point-of-care (POC) PGx testing as a diagnostic method, as well as the impact of their knowledge, attitudes, and sociodemographics on its adoption.

Methods: A cross-sectional survey of 200 physicians and medical trainees working at the Clinics of King Abdullah University Hospital in Jordan was performed. Read More

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Evaluation of the need for pharmacogenomics testing among physicians in the West Bank of Palestine.

Drug Metab Pers Ther 2021 Jun 4. Epub 2021 Jun 4.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine.

Objectives: Pharmacogenomics (PGx) testing optimizes pharmacotherapy and reduces interindividual variation in drug responses. However, it is still not implemented in clinical practice in the West Bank of Palestine (WBP). The aim of this study was to determine the need for PGx education and testing among physicians from different specialties in WBP. Read More

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Current challenges and opportunities for pharmacogenomics: perspective of the Industry Pharmacogenomics Working Group (I-PWG).

Hum Genet 2021 Jun 3. Epub 2021 Jun 3.

Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA.

Pharmaceutical companies have increasingly utilized genomic data for the selection of drug targets and the development of precision medicine approaches. Most major pharmaceutical companies routinely collect DNA from clinical trial participants and conduct pharmacogenomic (PGx) studies. However, the implementation of PGx studies during clinical development presents a number of challenges. Read More

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Pharmacogenomic-based Personalized Medicine: Multi-Stakeholder Perspectives on Implementational Drivers and Barriers in the Canadian Healthcare System.

Clin Transl Sci 2021 Jun 3. Epub 2021 Jun 3.

Ivey Business School, University of Western Ontario, London, ON, Canada.

Pharmacogenomics (PGx) based personalized medicine (PM) is increasingly utilized to guide treatment decisions for many drug-disease combinations. Notably, London Health Sciences Centre (LHSC) has pioneered a PGx program that has become a staple for London-based specialists. While implementational studies have been conducted in other jurisdictions, the Canadian healthcare system is understudied. Read More

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Determining the potential clinical value of panel-based pharmacogenetic testing in patients with chronic pain or gastroesophageal reflux disease.

Pharmacogenomics J 2021 Jun 1. Epub 2021 Jun 1.

Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, Gainesville, FL, USA.

We aimed to determine the potential value of panel-based pharmacogenetic (PGx) testing in patients with chronic pain or gastroesophageal reflux disease (GERD) who underwent single-gene PGx testing to guide opioid or proton pump inhibitor (PPI) therapy, respectively. Of 448 patients included (chronic pain, n = 337; GERD, n = 111), mean age was 57 years, 68% were female, and 73% were white. Excluding opiates for the pain cohort and PPIs for the GERD cohort, 76. Read More

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The Influence of Pharmacogenetics on the Clinical Relevance of Pharmacokinetic Drug-Drug Interactions: Drug-Gene, Drug-Gene-Gene and Drug-Drug-Gene Interactions.

Pharmaceuticals (Basel) 2021 May 20;14(5). Epub 2021 May 20.

Klinik für Psychische Gesundheit, Klinikum Frankfurt Höchst, 65929 Frankfurt, Germany.

Drug interactions are a well-known cause of adverse drug events, and drug interaction databases can help the clinician to recognize and avoid such interactions and their adverse events. However, not every interaction leads to an adverse drug event. This is because the clinical relevance of drug-drug interactions also depends on the genetic profile of the patient. Read More

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Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

J Pers Med 2021 May 11;11(5). Epub 2021 May 11.

Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

Pharmacogenomics (PGx) is a growing field within precision medicine. Testing can help predict adverse events and sub-therapeutic response risks of certain medications. To date, the US FDA lists over 280 drugs which provide biomarker-based dosing guidance for adults and children. Read More

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Pharmacogenetic-guided treatment of depression: real-world clinical applications, challenges and perspectives.

Clin Pharmacol Ther 2021 May 28. Epub 2021 May 28.

Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

Depression is a leading cause of disability worldwide and despite the availability of numerous antidepressants, the lack of standardised criteria to apply personalised prescription is still a major issue. Pharmacogenetic (PGx) markers in cytochrome P450 (CYP450) genes are already usable to guide antidepressant choice/titration according to clinical guidelines; they are an important step towards personalised psychiatry as they can reduce the time to identify an effective and tolerated treatment. Clinical application is still limited due to the financial and organisational challenges, but the number of services providing genotyping of pharmaco-genes is increasing, with encouraging projections of cost-effectiveness. Read More

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Analysis Approaches to Identify Pharmacogenetic Associations with Pharmacodynamics.

Clin Pharmacol Ther 2021 May 27. Epub 2021 May 27.

Departments of Pediatrics and Medicine, Vanderbilt University Medical Center, Nashville, TN, United States, 37232.

Pharmacogenetics (PGx) seeks to enable selection of the right dose of the right drug for each patient to optimize therapeutic outcomes. Most PGx focuses on pharmacokinetics (PK), due to our relatively advanced understanding of the genes involved in PK and the causative effects of variants in those genes. Genetic variants can also affect pharmacodynamics (PD), but relatively few PGx-PD associations have been identified. Read More

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Pharmacogenomics in the United States Community Pharmacy Setting: The Clopidogrel- Example.

Pharmgenomics Pers Med 2021 18;14:569-577. Epub 2021 May 18.

Ferris State University, Department of Pharmaceutical Sciences, Big Rapids, MI, USA.

Pharmacogenomics (PGx) is expanding across health-care practice settings, including the community pharmacy. In the United States, models of implementation of PGx in the community pharmacy have described independent services and those layered on to medication therapy management. The drug-gene pair of clopidogrel- has been a focus of implementation of PGx in community pharmacy and serves as an example of the evolution of the application of drug-gene interaction information to help optimize drug therapy. Read More

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Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.

JAMA Netw Open 2021 May 3;4(5):e2110446. Epub 2021 May 3.

Division of Clinical Pharmacology and Toxicology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Importance: Pharmacogenomic (PGx) testing provides preemptive pharmacotherapeutic guidance regarding the lack of therapeutic benefit or adverse drug reactions of PGx targeted drugs. Pharmacogenomic information is of particular value among children with complex medical conditions who receive multiple medications and are at higher risk of developing adverse drug reactions.

Objectives: To assess the implementation outcomes of a PGx testing program comprising both a point-of-care model that examined targeted drugs and a preemptive model informed by whole-genome sequencing that evaluated a broad range of drugs for potential therapy among children in a pediatric tertiary care setting. Read More

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Chronic Anticholinergic Toxicity Discovered in a Pharmacogenomics, Polypharmacy Patient.

Sr Care Pharm 2021 Jun;36(6):304-310

Objective: To report a case of chronic anticholinergic toxicity in a referred, pharmacogenomics (PGx), polypharmacy patient.

Summary: The patient is a 67-year-old male who was referred to the polypharmacy service for a PGx consult. This patient has had episodic fever of unknown origin, general cutaneous vasodilation, tremors, jerks, and brain fogginess which have been unexplained. Read More

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The Potential Role of Pharmacogenomics in Optimizing Drug Regimens for Older People with Major Depressive Disorder.

Sr Care Pharm 2021 Jun;36(6):276-282

Major depressive disorder (MDD) is a mood disorder common in older individuals. While many clinical guidelines endorse the use of selective serotonin reuptake inhibitors (SSRIs) as first-line therapy in the treatment of MDD, the use of SSRIs in older populations can result in medication-related adverse events. The use of pharmacogenomic (PGx) testing as a personalized tool to determine optimal SSRI therapy could offer a means to decrease morbidity and improve overall quality of life in older people. Read More

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The Potential Role of Pharmacogenomics.

David F Kisor

Sr Care Pharm 2021 Jun;36(6):270-272

The topic of phenoconversion was chosen for discussion in this editorial to add to the work presented by Cox and Marshall in this issue of The Senior Care Pharmacist. When considering the increased sensitivity that older patients have to medications, the inclusion of pharmacogenomics (PGx) information can be of great importance. Understanding the consequences of phenoconversion can further expand the role of PGx in patient care. Read More

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Efficacy and safety of opioid therapy guided by pharmacogenetics: a systematic review.

Pharmacogenomics 2021 Jun 20;22(9):573-586. Epub 2021 May 20.

Instituto de Efectividad Clínica y Sanitaria (IECS), Dr. Emilio Ravignani, Buenos Aires, 2024 (C1014CPV), Argentina.

To perform a systematic review to determine the efficacy/safety of PGx-guided opioid therapy for chronic/postoperative pain. We searched PubMed and other specialized databases. Articles were considered if they compared the efficacy/safety of PGx-guided opioid therapy versus usual care. Read More

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Dosage Adjustment of Irinotecan in Patients with UGT1A1 Polymorphisms: A Review of Current Literature.

Innov Pharm 2020 31;11(3). Epub 2020 Jul 31.

Mayo Clinic Florida.

Objective: To review available literature regarding pharmacogenomics (PGx) effects on the metabolism of irinotecan by the UGT1A1 gene and the resulting dose adjustments based on PGx genetic variant.

Summary: Irinotecan is a chemotherapy agent commonly used in treatment of various cancers such as metastatic colorectal cancer (mCRC) and others. The extent of decreased function of UGT1A1 varies based on genotype so irinotecan dose adjustments may be needed. Read More

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Pharmacogenomics (PGx) Patient with Mixed Levels of Actionable Variant Evidence.

Innov Pharm 2020 30;11(2). Epub 2020 Apr 30.

Mayo Clinic Florida.

Objective: To demonstrate the types of clinical recommendations a pharmacogenomics pharmacist may make to medical clinicians with regard to medication management to improve therapeutic outcomes based on varied levels of medical literature evidence.

Summary: This case demonstrates how a common type of patient seen in a pharmacist practice may present with a varied pharmacogenomic (PGx) profile, how they may benefit from PGx analysis, and how varying levels of medical literature evidence can be used with clinical decision making.

Conclusion: PGx testing can help avoid adverse drug reactions (ADRs) or medication inefficacy by assisting in the adjustment of current or future medication doses. Read More

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Deliberations about clinical pharmacogenetic testing in pediatric oncology.

Per Med 2021 Jul 11;18(4):399-405. Epub 2021 May 11.

Department of Pediatrics & BC Children's Hospital Research Institute, Division of Translational Therapeutics, University of British Columbia, Vancouver, BC V6H 3V4, Canada.

This article summarizes the background, content and outcomes of a special meeting that was convened among oncologists and scientists to discuss the role of pharmacogenetic (PGx) testing in pediatric clinical oncology practice. This meeting provided an opportunity for what the lead author (AM Issa) refers to as the 'voice of the clinician' dynamic to be amplified in order to better understand how personalized or precision medicine applications such as PGx testing are adopted and incorporated into clinical settings and what we can learn from the experiences of current and ongoing implementation PGx approaches to further the implementation of precision medicine applications in real-world environments. Group dynamics and clinical experience with PGx testing and return of results shaped the discussion. Read More

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A urinary peptidomic profile predicts outcome in SARS-CoV-2-infected patients.

EClinicalMedicine 2021 May 3:100883. Epub 2021 May 3.

Department of Infectious Diseases/Tropical Medicine, Nephrology/KfH Renal Unit and Rheumatology, St. Georg Hospital Leipzig, Delitzscher Strasse 141, Leipzig DE 04129, Germany.

Background: COVID-19 prediction models based on clinical characteristics, routine biochemistry and imaging, have been developed, but little is known on proteomic markers reflecting the molecular pathophysiology of disease progression.

Methods: he multicentre (six European study sites) Prospective Validation of a Proteomic Urine Test for Early and Accurate Prognosis of Critical Course Complications in Patients with SARS-CoV-2 Infection Study (Crit-COV-U) is recruiting consecutive patients (≥ 18 years) with PCR-confirmed SARS-CoV-2 infection. A urinary proteomic biomarker (COV50) developed by capillary-electrophoresis-mass spectrometry (CE-MS) technology, comprising 50 sequenced peptides and identifying the parental proteins, was evaluated in 228 patients (derivation cohort) with replication in 99 patients (validation cohort). Read More

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Patients with geographic barriers to health care access are prescribed a higher proportion of drugs with pharmacogenetic testing guidelines.

Clin Transl Sci 2021 May 5. Epub 2021 May 5.

Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, Gainesville, Florida, USA.

Pharmacogenetic (PGx) testing may be particularly beneficial in medically underserved populations by reducing the number of appointments required to optimize drug therapy and increasing the effectiveness of less expensive off-patent drugs. The objective of this study was to identify patient populations with poor health care access and assess prescribing trends for drugs with published PGx testing guidelines. We used electronic health record data from 67,753 University of Florida Health patients, geographic access scores calculated via the 2-step floating catchment area method, and a composite measure of socioeconomic status. Read More

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A prospective study to determine the clinical utility of pharmacogenetic testing of veterans with treatment-resistant depression.

J Psychopharmacol 2021 May 3:2698811211015224. Epub 2021 May 3.

Mental Health Service, VA San Diego Healthcare System, San Diego, CA, USA.

Background: Pharmacotherapies for depression are often ineffective and treatment-resistant depression (TRD) is common across bipolar disorder (BD), major depressive disorder (MDD), and post-traumatic stress disorder (PTSD). Patient genetic information can be used to predict treatment outcomes. Prospective studies indicate that pharmacogenetic (PGX) tests have utility in the treatment of depression. Read More

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Pharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners.

Front Pharmacol 2021 15;12:657985. Epub 2021 Apr 15.

Center for Genetics and Genomics, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina, Clínica Alemana Universidad Del Desarrollo, Santiago, Chile.

Use of pharmacogenetics (PGx) testing to guide clinical decisions is growing in developed countries. Published guidelines for gene-drug pair analysis are available for prescriptions in psychiatry, but information on their utilization, barriers, and health outcomes in Latin America is limited. As a result, this work aimed at exploring current use, opinions, and perceived obstacles on PGx testing among psychiatrists in Chile, via an online, anonymous survey. Read More

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Comprehensive Allele Genotyping in Critical Pharmacogenes Reduces Residual Clinical Risk in Diverse Populations.

Clin Pharmacol Ther 2021 Apr 30. Epub 2021 Apr 30.

Helix, San Mateo, California, USA.

Genomic-guided pharmaceutical prescribing is increasingly recognized as an important clinical application of genetics. Accurate genotyping of pharmacogenomic (PGx) genes can be difficult, owing to their complex genetic architecture involving combinations of single-nucleotide polymorphisms and structural variation. Here, we introduce the Helix PGx database, an open-source star allele, genotype, and resulting metabolic phenotype frequency database for CYP2C9, CYP2C19, CYP2D6, and CYP4F2, based on short-read sequencing of >86,000 unrelated individuals enrolled in the Helix DNA Discovery Project. Read More

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