CYP2C19 Genetic Testing for Oral P2Y12 Inhibitor Therapy: A Scientific Statement From the American Heart Association

Circulation, Год журнала: 2024, Номер 150(6)

Опубликована: Июнь 20, 2024

There is significant variability in the efficacy and safety of oral P2Y12 inhibitors, which are used to prevent ischemic outcomes common diseases such as coronary peripheral arterial disease stroke. Clopidogrel, a prodrug, most inhibitor activated primarily after being metabolized by highly polymorphic hepatic cytochrome CYP2C219 enzyme. Loss-of-function genetic variants

Язык: Английский

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Next-generation sequencing in pharmacogenomics – fit for clinical decision support?

Expert Review of Clinical Pharmacology, Год журнала: 2024, Номер 17(3), С. 213 - 223

Опубликована: Янв. 22, 2024

Introduction The technological advances of sequencing methods during the past 20 years have fueled generation large amounts data that comprise common variations, as well millions rare and personal variants would not be identified by conventional genotyping. While comprehensive is technically feasible, its clinical utility for guiding personalized treatment decisions remains controversial.

Язык: Английский

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Interrogating Pharmacogenetics Using Next-Generation Sequencing

The Journal of Applied Laboratory Medicine, Год журнала: 2024, Номер 9(1), С. 50 - 60

Опубликована: Янв. 1, 2024

Abstract Background Pharmacogenetics or pharmacogenomics (PGx) is the study of role inherited acquired sequence change in drug response. With rapid evolution molecular techniques, bioinformatic tools, and increased throughput functional genomic studies, discovery PGx associations clinical implementation test results have now moved beyond a handful variants single pharmacogenes multi-gene panels that interrogate few to whole-exome whole-genome scales. Although some laboratories adopted next-generation sequencing (NGS) as testing platform for other tests, most offer tests still use targeted genotyping approaches. Content This article discusses primarily technical considerations develop NGS-based including analyses highlights challenges opportunities design, content selection, pipeline allele diplotype assignment, rare variant classification, reporting, briefly touches additional areas are important successful results. Summary The accelerated speed technology development associated with continuous cost reduction enhanced ability complex genome regions makes it inevitable most, if not all, transition an near future. It relevant professional societies recognize both potential limitations profiling, work together standard consistent practice maximize detection rate utility testing.

Язык: Английский

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Pharmacogenetics: Opportunities for the All of Us Research Program and Other Large Data Sets to Advance the Field

The Annual Review of Pharmacology and Toxicology, Год журнала: 2025, Номер 65(1), С. 111 - 130

Опубликована: Янв. 23, 2025

Pharmacogenetic variation is common and an established driver of response for many drugs. There has been tremendous progress in pharmacogenetics knowledge over the last 30 years clinical implementation that 15 years. But there have also examples where translation stalled because lack available data sets discovery or validation research. The recent availability from very large cohorts with linked genetic, electronic health record, other promises new opportunities to advance This review presents stages widespread adoption using prominent gene-drug pairs implemented into practice as examples. We discuss All Us Research Program biorepositories genomic record present advancing accelerating practice.

Язык: Английский

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The Use of Pharmacogenomics in Cardiovascular Care

Nursing Clinics of North America, Год журнала: 2025, Номер unknown

Опубликована: Фев. 1, 2025

Язык: Английский

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Response to comment on “Restrospective cohort study of ambulatory care pharmacist interventions' impact on incidence of therapeutic response in anxiety and depression”

JACCP JOURNAL OF THE AMERICAN COLLEGE OF CLINICAL PHARMACY, Год журнала: 2025, Номер 8(3), С. 233 - 233

Опубликована: Март 1, 2025

Язык: Английский

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Strategies for DPYD testing prior to fluoropyrimidine chemotherapy in the US

Supportive Care in Cancer, Год журнала: 2024, Номер 32(8)

Опубликована: Июль 9, 2024

Язык: Английский

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Lessons from clinical implementation of a preemptive pharmacogenetic panel as part of a testing pilot program with an employer-sponsored medical plan

Frontiers in Genetics, Год журнала: 2023, Номер 14

Опубликована: Авг. 23, 2023

Introduction: This manuscript reports on a pilot program focused implementing pharmacogenetic testing within the framework of an employer-sponsored medical plan at University Florida (UF) Health. The aim was to understand challenges associated with implementation and gather insights into patient attitudes towards PGx testing. Methods: adopted partially preemptive approach, targeting patients current prescriptions for medications relevant gene-drug associations. Patients were contacted via phone or through MyChart system offered no additional direct costs. Results: Of 244 eligible patients, 110 agreed participate. However, only 61 returned mailed DNA collection kits. Among these, 89% had least one potentially actionable genotype-based phenotype. Post-test follow-up revealed that while majority viewed process positively, 71% preferred consultation specialist better understanding their results. Barriers ranged from fatigue healthcare lack concerns about privacy potential misuse genetic data. Conclusion: findings underscore need clearer education results suggest importance role pharmacogenetic-trained pharmacists in delivering this education. They also highlight issues relying incomplete inaccurate medication lists patients’ electronic health record. less obvious challenges, which could be beneficial success future programs. served bridge information gap between providers, -specialists, ultimate goal improving care.

Язык: Английский

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Estimating preferences and willingness to pay for pharmacogenetic testing in populations who are medically underserved: a discrete choice experiment

Frontiers in Pharmacology, Год журнала: 2024, Номер 15

Опубликована: Март 26, 2024

Background: The implementation of pharmacogenetic (PGx) testing may contribute to health disparities if access is inequitable, as medically underserved patients are prescribed higher rates drugs with PGx guidelines and often experience the benefits emerging technologies last. Limited research has evaluated potential in populations who none have their preferences regarding test characteristics cost. Our study endeavored assess willingness pay for key a nationwide cohort respondents. Methods: A survey was developed through discrete choice experiment (DCE). Five attributes tests were included DCE: doctor recommendation, wait time, number actionable results, benefit (avoid side effect or address problem), out-of-pocket convenience sample U.S. adults an average yearly household income $42,000 less collected utilizing online fielded by Qualtrics Research Services (Provo, UT). For DCE analysis, conditional logit mixed-logit regression models utilized determine relative utility levels, importance each attribute, marginal pay. Results: Respondents completed 83.1% response completion rate. Following quality control procedures, 1,060 respondents final cohort. Approximately, 82% willing than $100 testing, strong price ceiling identified at $200. Out-of-pocket cost attribute having greatest on choice, while time had lowest importance. Greater observed recommended, resolved major minor problems compared avoiding effects. Conclusion: This first-of-its-kind provides important insights into large population. Applying these findings can potentially lead improvements successful this

Язык: Английский

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Innovation in cancer pharmacotherapy through integrative consideration of germline and tumor genomes

Pharmacological Reviews, Год журнала: 2024, Номер 77(1), С. 100014 - 100014

Опубликована: Окт. 15, 2024

Precision cancer medicine is widely established, and numerous molecularly targeted drugs for various tumor entities are approved or in development. Personalized pharmacotherapy oncology has so far been based primarily on characteristics, e.g., somatic mutations. However, the response to drug treatment also depends pharmacological processes summarized under term ADME (absorption, distribution, metabolism, excretion). Variations genes have subject of intensive research more than five decades, considering individual patients9 genetic makeup, referred as pharmacogenomics (PGx). The combined impact a patient9s germline genome only partially understood often not adequately considered therapy. This may be attributed, part, lack methods analysis both data layers. Optimized personalized therapies should, therefore, aim integrate molecular information about germline, taking into account existing PGx guidelines Moreover, such strategies should provide opportunity consider variants previously unknown functional significance. Bioinformatic corresponding algorithms interpretation need developed interdisciplinary boards, where patients discussed evidence-based recommendations clinical management profiles. Significance Statement era seen emergence tailored associated with biology. full potential therapy remains untapped due predominant focus acquired tumor-specific alterations. care must patient genomes, guided by pharmacogenomic principles. An essential prerequisite realizing truly development bioinformatic tools comprehensive all layers generated modern precision programs.

Язык: Английский

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