Pharmacogenetics promises to optimize treatment-related outcomes by informing optimal drug selection and dosing based on an individual's genotype in conjunction with other important clinical factors. Despite significant evidence of genetic associations with drug response, pharmacogenetic testing has not been widely implemented into clinical practice. Among the barriers to broad implementation are limited guidance for how to successfully integrate testing into clinical workflows and limited data on outcomes with pharmacogenetic implementation in clinical practice.
View Article and Find Full Text PDFBackground: Depression is a global crisis and a major concern in mental health interventions, particularly in low- and middle-income countries (LMICs), where it significantly impacts disability, quality of life, and economic stability. These chronic stressors have been used to argue for scaling up the detection and treatment of depression as a public health and development priority.
Aim: This study aimed to explore illness narratives of depression among patients' and to gain insights into multifaceted suffering, its impact on persons' lives, and help seeking.
Underrepresented populations' participation in clinical trials remains limited, and the potential impact of genomic variants on drug metabolism remains elusive. This study aimed to assess the pharmacokinetics (PK) and pharmacogenomics (PGx) of ribociclib in self-identified Black women with hormone receptor-positive (HR+)/human epidermal growth factor receptor 2-negative (HER2) advanced breast cancer. LEANORA (NCT04657679) was a prospective, observational, multicenter cohort study involving 14 Black women.
View Article and Find Full Text PDFPurpose: Patients with dihydropyrimidine dehydrogenase (DPD) deficiency are at high risk for severe and fatal toxicity from fluoropyrimidine (FP) chemotherapy. Pre-treatment DPYD testing is standard of care in many countries, but not the United States (US). This survey assessed pre-treatment DPYD testing approaches in the US to identify best practices for broader adoption.
View Article and Find Full Text PDFIdentify oncology healthcare providers' attitudes toward barriers to and use cases for pharmacogenomic (PGx) testing and implications for prescribing anticancer and supportive care medications. A questionnaire was designed and disseminated to 71 practicing oncology providers across the MedStar Health System. 25 of 70 (36%) eligible oncology providers were included.
View Article and Find Full Text PDFIntuitively, experience playing against one mixture of opponents in a given domain should be relevant for a different mixture in the same domain. If the mixture changes, ideally we would not have to train from scratch, but rather could transfer what we have learned to construct a policy to play against the new mixture. We propose a transfer learning method, , that starts by learning -values against each pure-strategy opponent.
View Article and Find Full Text PDFFluoropyrimidine (FP) chemotherapy is associated with severe, life-threatening toxicities, particularly among patients who carry deleterious germline variants in the DPYD gene. Pretreatment DPYD testing is standard of care throughout most of Europe; however, it has not been recommended in clinical practice guidelines in the United States. Due to increased risk of severe toxicity, a Citizen's Petition asked the US Food and Drug Administration (FDA) to update language in FP drug labels to recommend DPYD testing as part of a boxed warning and recommend FP dose reduction in patients carrying deleterious germline variants.
View Article and Find Full Text PDFPharmacogenetics can improve clinical outcomes by reducing adverse drug effects and enhancing therapeutic efficacy for commonly used drugs that treat a wide range of cardiovascular diseases. One of the major barriers to the clinical implementation of cardiovascular pharmacogenetics is limited education on this field for current healthcare providers and students. The abundance of pharmacogenetic literature underscores its promise, but it can also be challenging to learn such a wealth of information.
View Article and Find Full Text PDFPatients experience interindividual variation in response to analgesics, which may be partially explained by genetics. This commentary discusses a recently published trial on COMT genotype and opioid dose requirements and describes the potential role for COMT and other genes (eg, CYP2D6) on opioid therapy and the current evidence for germline pharmacogenetics and resources for opioid pharmacogenetics.
View Article and Find Full Text PDFChemical, Biological, Radiological, Nuclear and Explosive/Environmental/Endemic Disease (CBRNE) incidents encompass a wide spectrum of events from natural events/disasters to industrial accidents through to deliberate military release and nuclear war. The UK military operates globally and in environments that are often austere. The very nature of these environments means that CBRNE incidents are a very real risk, and a CBRNE incident in a well-developed society could ultimately create an austere environment.
View Article and Find Full Text PDFClinical decision support (CDS) is often cited as an essential part of pharmacogenomics (PGx) implementations. A multitude of strategies are available; however, it is unclear which strategies are effective and which metrics are used to quantify clinical utility. The objective of this scoping review was to aggregate previous studies into a cohesive depiction of the current state of PGx CDS implementations and identify areas for future research on PGx CDS.
View Article and Find Full Text PDFJ Am Coll Clin Pharm
February 2022
Ineffective pain control is the most commonly cited reason for misuse of prescription opioids and is influenced by genetics. In particular, the gene encoding the CYP2D6 enzyme, which metabolizes some of the most commonly prescribed opioids (e.g.
View Article and Find Full Text PDFBackground: Despite the increased demand for pharmacogenetic (PGx) testing to guide antidepressant use, little is known about how to implement testing in clinical practice. Best-worst scaling (BWS) is a stated preferences technique for determining the relative importance of alternative scenarios and is increasingly being used as a healthcare assessment tool, with potential applications in implementation research. We conducted a BWS experiment to evaluate the relative importance of implementation factors for PGx testing to guide antidepressant use.
View Article and Find Full Text PDFTo evaluate the effect of pharmacogenomics (PGx) education for pharmacists. Three-part weekly webinar series occurred in 2021. Pharmacists were assessed on their PGx knowledge at baseline and after each webinar.
View Article and Find Full Text PDFThere is growing interest in utilizing pharmacogenetic (PGx) testing to guide antidepressant use, but there is lack of clarity on how to implement testing into clinical practice. We administered two surveys at 17 sites that had implemented or were in the process of implementing PGx testing for antidepressants. Survey 1 collected data on the process and logistics of testing.
View Article and Find Full Text PDFClinical decision support (CDS) is an essential part of any pharmacogenomics (PGx) implementation. Increasingly, institutions have implemented CDS tools in the clinical setting to bring PGx data into patient care, and several have published their experiences with these implementations. However, barriers remain that limit the ability of some programs to create CDS tools to fit their PGx needs.
View Article and Find Full Text PDFPurpose: The increased availability of clinical pharmacogenetic (PGx) guidelines and decreasing costs for genetic testing have slowly led to increased utilization of PGx testing in clinical practice. Pre-emptive PGx testing, where testing is performed in advance of drug prescribing, is one means to ensure results are available at the time of prescribing decisions. However, the most efficient and effective methods to clinically implement this strategy remain unclear.
View Article and Find Full Text PDFCYP2D6 genotype is increasingly being integrated into practice to guide prescribing of certain medications. The CYP2D6 drug metabolizing enzyme is susceptible to inhibition by concomitant drugs, which can lead to a clinical phenotype that is different from the genotype-based phenotype, a process referred to as phenoconversion. Phenoconversion is highly prevalent but not widely integrated into practice because of either limited experience on how to integrate or lack of knowledge that it has occurred.
View Article and Find Full Text PDFWe 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.
View Article and Find Full Text PDFPharmacogenetic (PGx) testing is a tool to identify patients at a higher risk of adverse events or treatment failure. The concern for unwanted side effects can limit medication adherence, particularly in children and adolescents. We conducted a pragmatic study to evaluate the acceptability and feasibility and gather pilot data on the utility of PGx testing in a child and adolescent psychiatry clinic.
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