Whole exome sequencing (WES) has the potential of identifying secondary findings that are predictive of poor pharmacotherapy outcomes. The purpose of this study was to investigate patients' wishes regarding the reporting of secondary pharmacogenomic findings. WES results (n = 106 patients) were retrospectively reviewed to determine the number of patients electing to receive secondary pharmacogenomic results. Phenotypes were assigned based on Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. The percent of patients with a predicted phenotype associated with a gene-based CPIC dosing recommendation was determined. Ninety-nine patients (93.4%) elected to receive secondary pharmacogenomic findings. For each gene-drug pair analyzed, the number of patients with an actionable phenotype ranged from two (2%) to 43 patients (43.4%). Combining all gene-drug pairs, 84 unique patients (84.8%) had an actionable phenotype. A prospective multidisciplinary practice model was developed for integrating secondary pharmacogenomic findings into clinical practice. Our model highlights a unique collaboration between physician-geneticists, pharmacists, and genetic counselors.
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http://dx.doi.org/10.1111/cts.12493 | DOI Listing |
Psychopharmacol Bull
January 2025
Oslin, MD, Veterans Integrated Service Network 4, Mental Illness Research, Education and Clinical Center, Crescenz Veterans Affairs Medical Center and Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
Eur Arch Psychiatry Clin Neurosci
December 2024
Department of Psychiatry, University of Muenster, Muenster, Germany.
Schizophrenia (SCZ), bipolar (BD) and major depression disorder (MDD) are severe psychiatric disorders that are challenging to treat, often leading to treatment resistance (TR). It is crucial to develop effective methods to identify and treat patients at risk of TR at an early stage in a personalized manner, considering their biological basis, their clinical and psychosocial characteristics. Effective translation of theoretical knowledge into clinical practice is essential for achieving this goal.
View Article and Find Full Text PDFAllergy
December 2024
Department of Pulmonary Medicine, AmsterdamUMC, University of Amsterdam, Amsterdam, The Netherlands.
Background: Long-acting beta2-agonists (LABA) in combination with inhaled corticosteroids (ICS) are commonly used to treat asthma, however, some children lack response to the addition of LABA. This might be partially due to the presence of the Arg16Gly polymorphism, encoded by rs1042713 G>A in the ADRB2 gene. Carrying the A allele (Arg16) at this variant has been associated with an increased risk of exacerbations despite LABA treatment.
View Article and Find Full Text PDFAddict Behav Rep
June 2025
Department of Psychiatry and Behavioural Neurosciences, McMaster University, 100 West 5th St., Hamilton, ON L8N 3K7, Canada.
Background: The substance use crisis continues to progress. Medication for Opioid Use Disorder (MOUD) are prescribed to reduce opioid use and related harms; however, many individuals continue to use substances while on treatment. The objective of this study was to describe the temporal and demographic trends of the agreement between self-reported and urine tested substances.
View Article and Find Full Text PDFJ Pain Res
December 2024
Committee on Clinical Pharmacology and Pharmacogenomics, University of Chicago, Chicago, IL, USA.
Background: Cancer patients frequently suffer from pain, often managed with opioids. However, undertreated pain remains a significant concern. Opioid effectiveness varies due to genetic differences in how individuals metabolize some of these medications.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!