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Frontiers in Pharmacology 2022
PubMed: 36438788
DOI: 10.3389/fphar.2022.1053027 -
Journal of Personalized Medicine Aug 2022(1) Background: Uptake of pharmacogenomic testing in routine clinical practices is currently slow in China. Pharmacists might play an important role in leveraging care...
(1) Background: Uptake of pharmacogenomic testing in routine clinical practices is currently slow in China. Pharmacists might play an important role in leveraging care through applying pharmacogenomics, therefore, it is important to better understand clinical pharmacists' knowledge of and attitudes toward pharmacogenomic testing, which has not been well-studied. (2) Methods: A self-administered survey was developed based on previous knowledge of pharmacogenomic testing and its uptake in China. Participants were recruited through the Committee of Pharmaceutical Affairs Management under the Chinese Hospital Association. (3) Results: A total of 1005 clinical pharmacists completed the questionnaire, among whom 996 (99.10%) had heard of pharmacogenomic testing before participation. More than half of respondents (60.0%, = 597) rated their knowledge of pharmacogenomic testing as "average", while 25% rated it "good" or "excellent". "Guidelines, consensus and treatment paths for disease diagnosis and treatment" (78.7%) were the most preferred sources of information about pharmacogenomic testing. Most respondents (77.0%) believed that pharmacogenomics could "help to improve efficacy and reduce the incidence of adverse reactions". Our participants also believed that patients would benefit most from pharmacogenomic testing through better prediction of individual drug responses and thus informed treatment decisions. The top challenge for the uptake of pharmacogenomic testing was its high cost or lack of insurance coverage (76.7%). (4) Conclusions: Most Chinese clinical pharmacists who participated in our study had a positive attitude toward pharmacogenomic testing, while the knowledge of pharmacogenomic testing was generally self-assessed as average.
PubMed: 36013297
DOI: 10.3390/jpm12081348 -
Contemporary Clinical Trials Aug 2022APOL1 risk alleles are associated with increased cardiovascular and chronic kidney disease (CKD) risk. It is unknown whether knowledge of APOL1 risk status motivates...
Design and rationale of GUARDD-US: A pragmatic, randomized trial of genetic testing for APOL1 and pharmacogenomic predictors of antihypertensive efficacy in patients with hypertension.
RATIONALE AND OBJECTIVE
APOL1 risk alleles are associated with increased cardiovascular and chronic kidney disease (CKD) risk. It is unknown whether knowledge of APOL1 risk status motivates patients and providers to attain recommended blood pressure (BP) targets to reduce cardiovascular disease.
STUDY DESIGN
Multicenter, pragmatic, randomized controlled clinical trial.
SETTING AND PARTICIPANTS
6650 individuals with African ancestry and hypertension from 13 health systems.
INTERVENTION
APOL1 genotyping with clinical decision support (CDS) results are returned to participants and providers immediately (intervention) or at 6 months (control). A subset of participants are re-randomized to pharmacogenomic testing for relevant antihypertensive medications (pharmacogenomic sub-study). CDS alerts encourage appropriate CKD screening and antihypertensive agent use.
OUTCOMES
Blood pressure and surveys are assessed at baseline, 3 and 6 months. The primary outcome is change in systolic BP from enrollment to 3 months in individuals with two APOL1 risk alleles. Secondary outcomes include new diagnoses of CKD, systolic blood pressure at 6 months, diastolic BP, and survey results. The pharmacogenomic sub-study will evaluate the relationship of pharmacogenomic genotype and change in systolic BP between baseline and 3 months.
RESULTS
To date, the trial has enrolled 3423 participants.
CONCLUSIONS
The effect of patient and provider knowledge of APOL1 genotype on systolic blood pressure has not been well-studied. GUARDD-US addresses whether blood pressure improves when patients and providers have this information. GUARDD-US provides a CDS framework for primary care and specialty clinics to incorporate APOL1 genetic risk and pharmacogenomic prescribing in the electronic health record.
TRIAL REGISTRATION
ClinicalTrials.govNCT04191824.
Topics: Black or African American; Antihypertensive Agents; Apolipoprotein L1; Blood Pressure; Genetic Testing; Humans; Hypertension; Pharmacogenetics; Renal Insufficiency, Chronic
PubMed: 35660539
DOI: 10.1016/j.cct.2022.106813 -
Cambridge Prisms. Precision Medicine 2023An ever-expanding annotation of the human genome sequence continues to promise a new era of precision medicine. Advances in knowledge management and the ability to... (Review)
Review
An ever-expanding annotation of the human genome sequence continues to promise a new era of precision medicine. Advances in knowledge management and the ability to leverage genetic information to make clinically relevant, predictive, diagnostic, and targeted therapeutic choices offer the ability to improve patient outcomes and reduce the overall cost of healthcare. However, numerous barriers have resulted in a modest start to the clinical use of genetics at scale. Examples of successful deployments include oncologic disease treatment with targeted prescribing; however, even in these cases, genome-informed decision-making has yet to achieve standard of care in most major healthcare systems. In the last two decades, advances in genetic testing, therapeutic coverage, and clinical decision support have resulted in early-stage adoption of pharmacogenomics - the use of genetic information to routinely determine the safety and efficacy profile of specific medications for individuals. Here, through their complicated histories, we review the current state of pharmacogenomic testing technologies, the information tools that can unlock clinical utility, and value-driving implementation strategies that represent the future of pharmacogenomics-enabled healthcare decision-making. We conclude with real-world economic and clinical outcomes from a full-scale deployment and ultimately provide insight into potential tipping points for global adoption, including recent lessons from the rapid scale-up of high-volume test delivery during the global SARS-CoV2 epidemic.
PubMed: 38550951
DOI: 10.1017/pcm.2022.3 -
Frontiers in Genetics 2021Pharmacogenomics (PGx) studies how a person's genes affect the response to medications and is quickly becoming a significant part of precision medicine. The clinical... (Review)
Review
Pharmacogenomics (PGx) studies how a person's genes affect the response to medications and is quickly becoming a significant part of precision medicine. The clinical application of PGx principles has consistently been cited as a major opportunity for improving therapeutic outcomes. Several recent studies have demonstrated that most individuals (> 90%) harbor PGx variants that would be clinically actionable if prescribed a medication relevant to that gene. In multiple well-conducted studies, the results of PGx testing have been shown to guide therapy choice and dosing modifications which improve treatment efficacy and reduce the incidence of adverse drug reactions (ADRs). Although the value of PGx testing is evident, its successful implementation in a clinical setting presents a number of challenges to molecular diagnostic laboratories, healthcare systems, providers and patients. Different molecular methods can be applied to identify PGx variants and the design of the assay is therefore extremely important. Once the genotyping results are available the biggest technical challenge lies in turning this complex genetic information into phenotypes and actionable recommendations that a busy clinician can effectively utilize to provide better medical care, in a cost-effective, efficient and reliable manner. In this paper we describe a successful and highly collaborative implementation of the PGx testing program at the University of Minnesota and MHealth Fairview Molecular Diagnostic Laboratory and selected Pharmacies and Clinics. We offer detailed descriptions of the necessary components of the pharmacogenomic testing implementation, the development and technical validation of the in-house SNP based multiplex PCR based assay targeting 20 genes and 48 SNPs as well as a separate CYP2D6 copy number assay along with the process of PGx report design, results of the provider and pharmacists usability studies, and the development of the software tool for genotype-phenotype translation and gene-phenotype-drug CPIC-based recommendations. Finally, we outline the process of developing the clinical workflow that connects the providers with the PGx experts within the Molecular Diagnostic Laboratory and the Pharmacy.
PubMed: 34745204
DOI: 10.3389/fgene.2021.712602 -
Pharmacy (Basel, Switzerland) Sep 2020Pharmacogenomics-defined as the study of how genes affect a person's response to drugs-is growing in importance for clinical care. Many medications have evidence and... (Review)
Review
Pharmacogenomics-defined as the study of how genes affect a person's response to drugs-is growing in importance for clinical care. Many medications have evidence and drug labeling related to pharmacogenomics and patient care. New evidence supports the use of pharmacogenomics in clinical settings, and genetic testing may optimize medication selection and dosing. Despite these advantages, the integration of pharmacogenomics into clinical decisions remains variable and challenging in certain practice settings. To ensure consistent application across settings, sufficient education amongst current and future healthcare providers is necessary to further integrate pharmacogenomics into routine clinical practice. This review highlights current evidence supporting clinical application of medications with pharmacogenomic labeling. The secondary objective is to review current strategies for educating health professionals and student trainees. One national organization predicts that most regions in the United States will soon contain at least one healthcare system capable of applying pharmacogenomic information. Applying genotype-guided dosing to several FDA-approved medications may help produce beneficial changes in patient outcomes. Identifying best practices for educating health care professionals and trainees remains vitally important for continuing growth of pharmacogenomic services. As pharmacogenomics continues to expand into more areas of healthcare, current and future practitioners must pursue and maintain competence in pharmacogenomics to ensure better outcomes for patients.
PubMed: 32899212
DOI: 10.3390/pharmacy8030163 -
Internal Medicine Journal Jul 2022Despite healthcare professionals (HCP) endorsing the clinical utility of pharmacogenomics testing, use in clinical practice is limited.
BACKGROUND
Despite healthcare professionals (HCP) endorsing the clinical utility of pharmacogenomics testing, use in clinical practice is limited.
AIMS
To assess HCP' perceptions of pharmacogenomic testing and identify barriers to implementation.
METHODS
HCP involved in prescribing decisions at three hospitals in Sydney, Australia, were invited to participate. The online survey assessed perceptions of pharmacogenomic testing, including: (i) demographic and practice variables; (ii) use, knowledge and confidence; (iii) perceived benefits; (iv) barriers to implementation; and (v) operational and/or system changes and personnel required to implement on site.
RESULTS
HCP were predominantly medical practitioners (75/107) and pharmacists (25/107). HCP perceived pharmacogenomic testing was beneficial to identify reasons for drug intolerance (85/95) and risk of side-effects (86/95). Although testing was considered relevant to their practice (79/100), few HCP (23/100) reported past or intended future use (26/100). Few HCP reported confidence in their ability to identify indications for pharmacogenomic testing (14/107), order tests (19/106) and communicate results with patients (16/107). Lack of clinical practice guidelines (62/79) and knowledge (54/77) were identified as major barriers to implementation of pharmacogenomics. Comprehensive reimbursement for testing and clinical practice guidelines, alongside models-of-care involving multidisciplinary teams and local clinical champions were suggested as strategies to facilitate implementation of pharmacogenomic testing into practice.
CONCLUSIONS
Pharmacogenomic testing was considered important to guide drug selection and dosing decisions. However, limited knowledge, low confidence and an absence of guidelines impede the use of pharmacogenomic testing. Establishment of local resources including multidisciplinary models-of-care was suggested to facilitate implementation of pharmacogenomics.
Topics: Australia; Hospitals; Humans; Perception; Pharmacogenetics; Pharmacogenomic Testing
PubMed: 35191159
DOI: 10.1111/imj.15719 -
Journal of Personalized Medicine Dec 2023Pharmacogenomic testing (PGx) is a tool used to guide physicians in selecting an optimal medication for clients based on their genetic profile. The objective of this...
Pharmacogenomic testing (PGx) is a tool used to guide physicians in selecting an optimal medication for clients based on their genetic profile. The objective of this qualitative study is to understand patients' experiences with PGx testing as well as their opinions regarding the clinical adoption of such tests in psychiatry. A focus group was conducted to assess the needs of clients who had experience using a PGx test. Participants were recruited from a large study on PGx testing that offered physicians an opportunity to use PGx reports to guide psychotropic prescriptions. The focus group discussions were recorded, transcribed, and coded using NVivo to identify core themes. A total of 11 people participated in the focus group. Our analysis revealed that many participants were in favour of implementing PGx testing in psychiatric practice, and all expressed important considerations for patient-centred optimization of PGx testing. The main themes captured were: education and awareness among clinicians, cost considerations, PGx results-sharing and accessibility, and prospective benefits. The results of this study suggest that patients are keen to see PGx testing in widespread clinical care, but they report important opportunities to improve knowledge mobilization of PGx testing.
PubMed: 38248723
DOI: 10.3390/jpm14010022