Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)

Clinical Chemistry, Journal Year: 2025, Volume and Issue: 71(1), P. 36 - 44

Published: Jan. 1, 2025

Pharmacogenomics (PGx) is focused on the relationship between an individual's genetic makeup and their response to medications, with overarching aim of guiding prescribing decisions improve drug efficacy reduce adverse events. The PGx genomic medicine communities have worked independently for over 2 decades, developing separate standards terminology, making implementation across all areas difficult. To address this issue, Clinical Genome Resource (ClinGen) Working Group (PGxWG) was established by National Institutes Health (NIH)-funded ClinGen initially create frameworks evaluating gene-drug clinical validity actionability aligned monogenic gene-disease relationships, a framework classifying germline variants similar American College Medical Genetics (ACMG) Association Molecular Pathology (AMP) system interpretation disease-causing variants. These will leverage decades work from well-established resources facilitating buy-in among stakeholders. In report, we describe background major activities PGxWG, how initiative facilitate critical inclusion into larger context medicine.

Language: Английский

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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

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Patient perspectives of a multidisciplinary Pharmacogenomics clinic

Pharmacogenomics, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 13

Published: March 20, 2025

To assess patient perspectives following evaluation in a multidisciplinary pharmacogenomics clinic run by clinical pharmacist, genetic counselor, and physician. A survey was distributed to 187 adults seen the Brigham Women's Hospital Pharmacogenomics Clinic. Participants who completed were invited complete semi-structured interview. Interview subjects selected based on order of responses, scheduling availability, range participant experiences with testing process. Surveys analyzed descriptive statistics, interview transcripts thematic analysis. Forty-two responses received; 13 participants interviewed. Quantitative data demonstrated high satisfaction model belief that pharmacogenomic has value. Qualitative analysis identified four themes: 1) Self-Advocacy as Patient Responsibility Utilization Pharmacogenomic Results, 2) High Satisfaction Multidisciplinary Clinic Model Team, 3) Utility Pharmacogenomics, 4) Desire for Resources. Patients value care provided team, but they need advocate use their results other healthcare professionals.

Language: Английский

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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

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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

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Healthcare provider and patient perspectives on the implementation of pharmacogenetic-guided treatment in routine clinical practice

Pharmacogenetics and Genomics, Journal Year: 2024, Volume and Issue: unknown

Published: June 18, 2024

Objective This study aims to understand patient and healthcare provider perspectives on the integration application of pharmacogenetics (PGx) testing in routine clinical practice. Methods Two anonymous online surveys were distributed globally for providers patients respectively Qualtrics platform (version 3.24). The through social platforms, email, posters with QR codes from 27 October 2023 7 March 2024. evaluated participant familiarity PGx, previous experience PGx testing, perceived implementation challenges, opinions point-of-care (PoC) devices. Results collected 78 responses 98 patients. results revealed that 64% had some level however, practice was low. primary challenges identified by included limited access lack knowledge test interpretation. In contrast, 52% respondents aware a significant association between awareness positive toward PGx. Both recognized value PoC devices, 98% 71% believing devices would improve accessibility testing. Comparative analysis statistically difference patients, being more informed. Conclusion Improved awareness, training, guidelines, may help promote PGx-guided treatments

Language: Английский

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How Can We Boost the Pharmacogenomics Adoption Rate in Clinical Practice Around the World?

OMICS A Journal of Integrative Biology, Journal Year: 2024, Volume and Issue: 28(4), P. 204 - 205

Published: April 1, 2024

Language: Английский

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Issue Information

Clinical and Translational Science, Journal Year: 2023, Volume and Issue: 16(12), P. 2413 - 2416

Published: Dec. 1, 2023

Clinical and Translational Science highlights original research that helps bridge laboratory discovery with the diagnosis treatment of human disease. Research may appear as Articles

Language: Английский

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