Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives

Cells, Journal Year: 2024, Volume and Issue: 13(6), P. 504 - 504

Published: March 13, 2024

The integration of whole genome sequencing (WGS) into all aspects modern medicine represents the next step in evolution healthcare. Using this technology, scientists and physicians can observe entire human comprehensively, generating a plethora new data. Modern computational analysis entails advanced algorithms for variant detection, as well complex models classification. Data science machine learning play crucial role processing interpretation results, using enormous databases statistics to discover support current genotype–phenotype correlations. In clinical practice, technology has greatly enabled development personalized medicine, approaching each patient individually accordance with their genetic biochemical profile. most propulsive areas include rare disease genomics, oncogenomics, pharmacogenomics, neonatal screening, infectious genomics. Another application WGS lies field multi-omics, working towards complete biomolecular Further technological technologies led birth third fourth-generation sequencing, which long-read single-cell nanopore sequencing. These technologies, alongside continued implementation medical research show great promise future medicine.

Language: Английский

---

Knowledge, perceptions, and attitudes toward pharmacogenomics among pharmacists and pharmacy students: A systematic review

Health Science Reports, Journal Year: 2024, Volume and Issue: 7(1)

Published: Jan. 1, 2024

Abstract Background and Aims Pharmacists have been recognized as one of the most qualified healthcare professionals in clinical implementation pharmacogenomics, yet its widespread pharmacy practice has remained limited. The review aims to systematically investigate knowledge, perceptions, attitudes toward pharmacogenomics among pharmacists students inform future delivery education programs. Methods PubMed, MEDLINE, Embase, Scopus, International Pharmaceutical Abstracts were searched up May 17, 2022. Studies selected if they included data on pharmacists' or students' perception, attitude about published a peer‐reviewed, English‐language journal with full‐text availability. Any study not deemed original research was excluded. All studies critically appraised using Center for Evidence‐Based Management's critical appraisal tools. descriptively analyzed presented based knowledge/awareness, perception/attitudes pharmacogenomic (PGx), confidence interpreting PGx testing results, their desire get further preferred method education. Results A combined total 12,430 from 26 countries are represented 52 studies. Despite overwhelmingly positive perceptions students, an overall lack adequate knowledge found. also found strong students. Conclusion which is hindered by confidence. However, inadequate control confounders, limited representativeness studied population region, small sample sizes diminish generalizability results. Knowledge could be improved through enhanced courses within curriculum continuing

Language: Английский

---

Pharmacogenomics – a minor rather than major force in clinical medicine

Expert Review of Clinical Pharmacology, Journal Year: 2024, Volume and Issue: 17(3), P. 203 - 212

Published: Feb. 3, 2024

Pharmacogenomics (PGx) is touted as essential for the future of precision medicine. But opportunity cost PGx from prescribers' perspective rarely considered. The aim this article to critique PGx-guided prescribing using clinical pharmacology principles so that important cases testing are not missed by doctors responsible therapeutic decision making.

Language: Английский

---

Informing Implementation Strategies for Pharmacogenomics in Cancer: Development of Survey Tools for Healthcare Professionals and Consumers

Clinical and Translational Science, Journal Year: 2025, Volume and Issue: 18(3)

Published: March 1, 2025

ABSTRACT Integration of clinical pharmacogenomics (PGx) within routine cancer care is limited despite frequent use medicines impacted by PGx, evidence for the benefits and availability international PGx guidelines. Our study objective was to develop survey tools assess knowledge, attitudes, practices, perceptions, education needs among (a) doctors, nurses, pharmacists involved in (healthcare professionals, HCPs) (b) adults who have received treatment or their carers (consumers), with view informing implementation strategies solid hematologic cancers. Survey were developed a three‐phase (ph) mixed‐methods approach. Content informed systematic literature review findings framed determinants behavior as Theoretical Domains Framework (ph‐1). Refinement occurred through four separate priority partnership meetings (ph‐2). Meetings focused on practices select streams, consumers' preferences testing. Content/face validity health literacy (Flesch Kincaid Grade Level) assessments final refinements (ph‐3). Separate HCP consumer six common sections: (1) introduction; (2) demographics; (3) experience; (4) perceptions; (5) education; (6) vignettes. face rated highly acceptable questions (median grade level 6; range 1–8). The will be used generate inform local promote broader integration care.

Language: Английский

---

Implementing CYP2C19-guided clopidogrel therapy: a scoping review of pharmacogenomic testing services

The Pharmacogenomics Journal, Journal Year: 2025, Volume and Issue: 25(3)

Published: April 25, 2025

Language: Английский

---

The Critical Role of Pharmacists in the Clinical Delivery of Pharmacogenetics in the U.S

Pharmacy, Journal Year: 2023, Volume and Issue: 11(5), P. 144 - 144

Published: Sept. 10, 2023

Since the rebirth of pharmacogenomics (PGx) in 1990s and 2000s, with new discoveries genetic variation underlying adverse drug response analytical technologies such as sequencing microarrays, there has been much interest clinical application PGx testing. The early involvement pharmacists studies establishment organizations to support dissemination information about variants have naturally resulted leaders implementation. This paper presents an overview evolving role pharmacists, discusses potential challenges future paths, primarily focused U.S. Pharmacists positioned themselves testing, will prepare next generation utilize testing their scope practice.

Language: Английский

---

Healthcare professionals' and consumers' knowledge, attitudes, perspectives, and education needs in oncology pharmacogenomics: A systematic review

Clinical and Translational Science, Journal Year: 2023, Volume and Issue: 16(12), P. 2467 - 2482

Published: Nov. 22, 2023

Abstract Clinical implementation of pharmacogenomic (PGx)‐guided prescribing in oncology lags behind research evidence generation. We aimed to identify healthcare professionals' (HCPs) and consumers' knowledge, attitudes, perspectives, education needs inform strategies for scalable sustainable PGx programs. Systematic review original articles indexed EMBASE, EMCARE, MEDLINE, PsycInfo from January 2012 until June 2022, following Preferred Reporting Items Reviews Meta‐Analyses (PRISMA) guidelines using the Mixed Methods Appraisal Tool. PROSPERO registration number CRD42022352348. Of 1442 identified studies; 23 met inclusion criteria with 87% assessed high quality. these, 52% reported on HCPs, 35% consumers, 13% both HCPs consumers. Most were conducted United States (70%) included multiple cancer types (74%). Across studies, consumers mostly perceived value PGx, however, groups barriers utilization, including cost, lack consistent recommendations across guidelines, limited knowledge among HCPs; test accuracy, clear testing benefits, genomic information confidentiality want engage care, are inhibited by unmet practice gaps. Implementation at addressing these issues may best support increased uptake practice.

Language: Английский

---

ADME Gene-Related Pharmacogenomic Labeling of FDA-Approved Drugs: Comparison with Clinical Pharmacogenetics Implementation Consortium (CPIC) Evidence Levels

Medicines, Journal Year: 2024, Volume and Issue: 11(3), P. 6 - 6

Published: Feb. 20, 2024

Pharmacogenomics (PGx) can facilitate the transition to patient-specific drug regimens and thus improve their efficacy reduce toxicity. The aim of this study was evaluate overlap PGx classification for absorption, distribution, metabolism, elimination (ADME)-related genes in U.S. Food Drug Administration (FDA) labeling Clinical Pharmacogenetics Implementation Consortium (CPIC) database. FDA-approved drugs ADME were identified CPIC Drugs filtered by association with (pharmacokinetics)-related genes, FDA class, evidence level. classified as either actionable, informative, testing recommended, or required, varying levels A, B, C, D. From a total 442 non-ADME gene–drug pairs database, 273, 55, 48 excluded lack labeling, mixed level provisional classification, pairs, respectively. 66 into following categories: 10 (15%) 49 (74%) 6 (9%) 1 (2%) required. CYP2D6 most prevalent gene among labeling. both majority depression, cancer, pain medications. considerably classification; however, large number have only but not classification. actionable common Health professionals impact therapeutic outcomes via pharmacogenetic interventions analyzing reconciling labels

Language: Английский

---

One Step Ahead in Realizing Pharmacogenetics in Low- and Middle-Income Countries: What Should We Do?

Journal of Multidisciplinary Healthcare, Journal Year: 2024, Volume and Issue: Volume 17, P. 4863 - 4874

Published: Oct. 1, 2024

Pharmacogenetics is a promising approach in future personalized medicine. This field holds excellent prospects for healthcare quality acceleration. It promotes the transition to precision medicine era, whereby health treatment driven by deeper understanding of individual characteristics interpreting underlying genomic variation. has been developing rapidly since human genome project. Many pharmacogenetics studies have shown association between genetic variants and therapy outcomes. Several working groups recommended guidelines clinical application pharmacogenetics. However, development low- middle-income countries (LMICs) still retarded behind. The problems mainly include evidence, technology, policy regulation, resources. Currently, available drug effect data LMICs are scarce. should be escalated with evidence proof through research collaboration across countries. challenges implementation discussed comprehensively this article, along prospect pharmacogenetics-guided developed Stepwise expected help researchers stakeholders define problem that hindered application.

Language: Английский

---

A Scoping Review of Pharmacogenomic Educational Interventions to Improve Knowledge and Confidence

American Journal of Pharmaceutical Education, Journal Year: 2024, Volume and Issue: 88(3), P. 100668 - 100668

Published: Feb. 6, 2024

Poor knowledge and confidence in pharmacogenomics are key barriers to implementation. Education of future health care professionals is required enhance appropriate use pharmacogenomics; however, the optimal education approach unclear. This systematic scoping review evaluates pharmacogenomic educational interventions improve confidence.

Language: Английский

---