Personalizing Personalized Medicine: The Confluence of Pharmacogenomics, a Person’s Medication Experience and Ethics

Stratton, Timothy P.; Olson, Anthony W.

doi:10.3390/pharmacy11030101

Cited by 4 publications

(2 citation statements)

References 40 publications

(68 reference statements)

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“…Moreover, pharmacogenomics, an essential aspect of precision medicine, explores how an individual's genetic makeup influences their response to medication. By predicting how a patient will metabolize and respond to specific drugs, healthcare providers can guide medication selection and dosing, further minimizing adverse effects [ 17 ].…”

Section: Crispr: the La(te)st Frontiermentioning

confidence: 99%

Patient-centered precision care in anaesthesia – the PC-square (PC)2 approach

Berger-Estilita,

Marcolino,

Radtke

2024

Current Opinion in Anaesthesiology

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Purpose of review This review navigates the landscape of precision anaesthesia, emphasising tailored and individualized approaches to anaesthetic administration. The aim is to elucidate precision medicine principles, applications, and potential advancements in anaesthesia. The review focuses on the current state, challenges, and transformative opportunities in precision anaesthesia. Recent findings The review explores evidence supporting precision anaesthesia, drawing insights from neuroscientific fields. It probes the correlation between high-dose intraoperative opioids and increased postoperative consumption, highlighting how precision anaesthesia, especially through initiatives like Safe Brain Initiative (SBI), could address these issues. The SBI represents multidisciplinary collaboration in perioperative care. SBI fosters effective communication among surgical teams, anaesthesiologists, and other medical professionals. Summary Precision anaesthesia tailors care to individual patients, incorporating genomic insights, personalised drug regimens, and advanced monitoring techniques. From EEG to cerebral/somatic oximetry, these methods enhance precision. Standardised reporting, patient-reported outcomes, and continuous quality improvement, alongside initiatives like SBI, contribute to improved patient outcomes. Precision anaesthesia, underpinned by collaborative programs, emerges as a promising avenue for enhancing perioperative care.

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Section: Crispr: the La(te)st Frontiermentioning

confidence: 99%

Patient-centered precision care in anaesthesia – the PC-square (PC)2 approach

Berger-Estilita,

Marcolino,

Radtke

2024

Current Opinion in Anaesthesiology

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“…Pharmacogenomics, the investigation into how an individual's genetic composition influences their response to drugs, is rapidly progressing and holds the potential to revolutionize healthcare. 1 , 2 Advanced DNA sequencing technologies enable computational methods to analyze genetic variations, 3 identify star alleles, and extract genotypes from whole‐genome sequencing (WGS) and whole‐exome sequencing (WES) datasets. 4 The clinical next‐generation sequencing (NGS) data provide pharmacogenetic information, eliminating the need for additional genetic testing, and enabling safe and effective drug administration.…”

Section: Introductionmentioning

confidence: 99%

A comprehensive Thai pharmacogenomics database (TPGxD‐1): Phenotype prediction and variants identification in 942 whole‐genome sequencing data

John,

Klumsathian,

Own‐eium

et al. 2024

Clinical Translational Sci

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Computational methods analyze genomic data to identify genetic variants linked to drug responses, thereby guiding personalized medicine. This study analyzed 942 whole‐genome sequences from the Electricity Generating Authority of Thailand (EGAT) cohort to establish a population‐specific pharmacogenomic database (TPGxD‐1) in the Thai population. Sentieon (version 201808.08) implemented the GATK best workflow practice for variant calling. We then annotated variant call format (VCF) files using Golden Helix VarSeq 2.5.0 and employed Stargazer v2.0.2 for star allele analysis. The analysis of 63 very important pharmacogenes (VIPGx) reveals 85,566 variants, including 13,532 novel discoveries. Notably, we identified 464 known PGx variants and 275 clinically relevant novel variants. The phenotypic prediction of 15 VIPGx demonstrated a varied metabolic profile for the Thai population. Genes like CYP2C9 (9%), CYP3A5 (45.2%), CYP2B6 (9.4%), NUDT15 (15%), CYP2D6 (47%) and CYP2C19 (43%) showed a high number of intermediate metabolizers; CYP3A5 (41%), and CYP2C19 (9.9%) showed more poor metabolizers. CYP1A2 (52.7%) and CYP2B6 (7.6%) were found to have a higher number of ultra‐metabolizers. The functional prediction of the remaining 10 VIPGx genes reveals a high frequency of decreased functional alleles in SULT1A1 (12%), NAT2 (84%), and G6PD (12%). SLCO1B1 reports 20% poor functional alleles, while PTGIS (42%), SLCO1B1 (4%), and TPMT (5.96%) showed increased functional alleles. This study discovered new variants and alleles in the 63 VIPGx genes among the Thai population, offering insights into advancing clinical pharmacogenomics (PGx). However, further validation is needed using other computational and genotyping methods.

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Pharmacogenomics to support mental health medication therapy management: Clinical practice considerations and a conceptual framework to enhance patient care

Bishop,

Schneiderhan,

Butler

et al. 2023

J Am Coll Clin Pharm

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Mental illnesses are common and often necessitate the use of medications to improve symptoms. For most common conditions, many pharmacologic treatment options are available, but there is limited evidence to guide the selection of a specific medication or dose for a given patient. Dose‐related side effects are common, and many patients either drop out of treatment or require multiple medication trials before finding a regimen they can tolerate. This prolongs time to remission, increasing suffering and risk for severe outcomes including disability and suicide. A promising approach to reduce early medication discontinuation or switching is through the strategic application of pharmacogenomics (PGx), which utilizes an individual's genetic information to refine dosing or better select an optimal medication. Extensive research has established how genetic variation may influence to what extent individuals metabolize medications commonly prescribed for mental illnesses. The evidence‐based integration of PGx information into clinical care necessitates a patient‐centered approach that considers many factors. Comprehensive medication management by pharmacists provides an optimal framework to incorporate PGx information to improve treatment precision in mental health.This article is protected by copyright. All rights reserved.

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Personalizing Personalized Medicine: The Confluence of Pharmacogenomics, a Person’s Medication Experience and Ethics

Cited by 4 publications

References 40 publications

Patient-centered precision care in anaesthesia – the PC-square (PC)2 approach

Patient-centered precision care in anaesthesia – the PC-square (PC)2 approach

A comprehensive Thai pharmacogenomics database (TPGxD‐1): Phenotype prediction and variants identification in 942 whole‐genome sequencing data

Pharmacogenomics to support mental health medication therapy management: Clinical practice considerations and a conceptual framework to enhance patient care

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