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Pharmacopsychiatry Jan 2021The implementation of pharmacogenomic (PGx) testing in psychiatry remains modest, in part due to divergent perceptions of the quality and completeness of the evidence...
The implementation of pharmacogenomic (PGx) testing in psychiatry remains modest, in part due to divergent perceptions of the quality and completeness of the evidence base and diverse perspectives on the clinical utility of PGx testing among psychiatrists and other healthcare providers. Recognizing the current lack of consensus within the field, the International Society of Psychiatric Genetics assembled a group of experts to conduct a narrative synthesis of the PGx literature, prescribing guidelines, and product labels related to psychotropic medications as well as the key considerations and limitations related to the use of PGx testing in psychiatry. The group concluded that to inform medication selection and dosing of several commonly-used antidepressant and antipsychotic medications, current published evidence, prescribing guidelines, and product labels support the use of PGx testing for 2 cytochrome P450 genes (). In addition, the evidence supports testing for human leukocyte antigen genes when using the mood stabilizers carbamazepine (), oxcarbazepine (), and phenytoin (CYP2C9, HLA-B). For valproate, screening for variants in certain genes () is recommended when a mitochondrial disorder or a urea cycle disorder is suspected. Although barriers to implementing PGx testing remain to be fully resolved, the current trajectory of discovery and innovation in the field suggests these barriers will be overcome and testing will become an important tool in psychiatry.
Topics: Anticonvulsants; Antidepressive Agents; Antipsychotic Agents; Cytochrome P-450 CYP2C19; Cytochrome P-450 CYP2D6; Dose-Response Relationship, Drug; HLA Antigens; Humans; Pharmacogenomic Testing; Practice Guidelines as Topic; Psychiatry; Urea Cycle Disorders, Inborn
PubMed: 33147643
DOI: 10.1055/a-1288-1061 -
British Journal of Clinical Pharmacology Oct 2022Pharmacogenomics (PGx) relates to the study of genetic factors determining variability in drug response. Implementing PGx testing in paediatric patients can enhance drug... (Review)
Review
Pharmacogenomics (PGx) relates to the study of genetic factors determining variability in drug response. Implementing PGx testing in paediatric patients can enhance drug safety, helping to improve drug efficacy or reduce the risk of toxicity. Despite its clinical relevance, the implementation of PGx testing in paediatric practice to date has been variable and limited. As with most paediatric pharmacological studies, there are well-recognised barriers to obtaining high-quality PGx evidence, particularly when patient numbers may be small, and off-label or unlicensed prescribing remains widespread. Furthermore, trials enrolling small numbers of children can rarely, in isolation, provide sufficient PGx evidence to change clinical practice, so extrapolation from larger PGx studies in adult patients, where scientifically sound, is essential. This review paper discusses the relevance of PGx to paediatrics and considers implementation strategies from a child health perspective. Examples are provided from Canada, the Netherlands and the UK, with consideration of the different healthcare systems and their distinct approaches to implementation, followed by future recommendations based on these cumulative experiences. Improving the evidence base demonstrating the clinical utility and cost-effectiveness of paediatric PGx testing will be critical to drive implementation forwards. International, interdisciplinary collaborations will enhance paediatric data collation, interpretation and evidence curation, while also supporting dedicated paediatric PGx educational initiatives. PGx consortia and paediatric clinical research networks will continue to play a central role in the streamlined development of effective PGx implementation strategies to help optimise paediatric pharmacotherapy.
Topics: Child; Cost-Benefit Analysis; Humans; Netherlands; Pediatrics; Pharmacogenetics; Pharmacogenomic Testing
PubMed: 34907575
DOI: 10.1111/bcp.15181 -
Expert Review of Pharmacoeconomics &... Dec 2017Pharmacogenomic testing has the potential to greatly benefit patients by enabling personalization of medication management, ensuring better efficacy and decreasing the... (Review)
Review
Pharmacogenomic testing has the potential to greatly benefit patients by enabling personalization of medication management, ensuring better efficacy and decreasing the risk of side effects. However, to fully realize the potential of pharmacogenomic testing, there are several important issues that must be addressed. Areas covered: In this expert review we discuss current challenges impacting the implementation of pharmacogenomic testing in the clinical practice. We emphasize issues related to testing methods, reporting of the results, test selection, clinical interpretation of the results, cost-effectiveness, and the long-term use of pharmacogenomic results in clinical practice. We identify opportunities and future directions to facilitate clinical implementation. Expert commentary: Several key elements are necessary to optimally integrate pharmacogenomic testing into clinical practice. Collaborative efforts among laboratories are needed to improve standardization of testing and reporting of the results. Clinicians need educational opportunities to improve understanding of which test to order and how to interpret the results. The electronic health records and other clinical systems need to improve their storage of the pharmacogenomics test results and interoperability to facilitate the use of clinically actionable results to improve patient care.
Topics: Cooperative Behavior; Cost-Benefit Analysis; Drug-Related Side Effects and Adverse Reactions; Electronic Health Records; Humans; Patient Care; Pharmacogenetics; Pharmacogenomic Testing; Precision Medicine
PubMed: 28949250
DOI: 10.1080/14737167.2017.1385395 -
Pharmacogenomic testing for antidepressant treatment selection: lessons learned and roadmap forward.Neuropsychopharmacology : Official... Jan 2024Pharmacogenomic technology is a developing field with enthusiastic interest and broad application potential. Three large, controlled studies have been published... (Review)
Review
Pharmacogenomic technology is a developing field with enthusiastic interest and broad application potential. Three large, controlled studies have been published exploring the benefit of pharmacogenomically guided antidepressant treatment selection. Though all three studies did not show significant benefit of using this technology, these studies laid the foundation for further research that should address the limitations of this previous research and currently available commercial platforms. Future research needs to include large scale pharmacogenomic trials with GWAS analytics across diverse groups with attention to cost-effectiveness models, particularly for cases of treatment resistance and polypharmacy. The application of results from these large scale pharmacogenomic trials must also include exploring optimal EHR user interface design.
Topics: Pharmacogenomic Testing; Pharmacogenetics; Antidepressive Agents; Research Design
PubMed: 37550439
DOI: 10.1038/s41386-023-01667-4 -
Pharmacogenomics Aug 2021The application of pharmacogenomics could meaningfully contribute toward medicines optimization within primary care. This review identified 13 studies describing eight... (Review)
Review
The application of pharmacogenomics could meaningfully contribute toward medicines optimization within primary care. This review identified 13 studies describing eight implementation models utilizing a multi-gene pharmacogenomic panel within a primary care or community setting. These were small feasibility studies (n <200). They demonstrated importance and feasibility of pre-test counseling, the role of the pharmacist, data integration into the electronic medical record and point-of-care clinical decision support systems (CDSS). Findings were considered alongside existing primary care prescribing practices and implementation frameworks to demonstrate how issues may be addressed by existing nationalized healthcare and primary care infrastructure. Development of point-of-care CDSS should be prioritized; establishing clinical leadership, education programs, defining practitioner roles and responsibilities and addressing commissioning issues will also be crucial.
Topics: Decision Support Systems, Clinical; Drug Prescriptions; Humans; Pharmacists; Pharmacogenetics; Pharmacogenomic Testing; Primary Health Care
PubMed: 34467776
DOI: 10.2217/pgs-2021-0032 -
Pharmacogenomics Feb 2021In 2019, the Veterans Affairs (VA), the largest integrated US healthcare system, started the Pharmacogenomic Testing for Veterans (PHASER) clinical program that provides...
In 2019, the Veterans Affairs (VA), the largest integrated US healthcare system, started the Pharmacogenomic Testing for Veterans (PHASER) clinical program that provides multi-gene pharmacogenomic (PGx) testing for up to 250,000 veterans at approximately 50 sites. PHASER is staggering program initiation at sites over a 5-year period from 2019 to 2023, as opposed to simultaneous initiation at all sites, to facilitate iterative program quality improvements through Plan-Do-Study-Act cycles. Current resources in the PGx field have not focused on multisite, remote implementation of panel-based PGx testing. In addition to bringing large scale PGx testing to veterans, the PHASER program is developing a roadmap to maximize uptake and optimize the use of PGx to improve drug response outcomes.
Topics: Humans; Pharmacogenomic Testing; Precision Medicine; Program Development; United States; United States Department of Veterans Affairs; Veterans; Veterans Health Services
PubMed: 33403869
DOI: 10.2217/pgs-2020-0173 -
Journal of the American College of... May 2018
Topics: Acute Coronary Syndrome; Humans; Pharmacogenetics; Pharmacogenomic Testing; Platelet Aggregation Inhibitors; Prasugrel Hydrochloride
PubMed: 29699613
DOI: 10.1016/j.jacc.2018.03.021 -
The Journal of Clinical Psychiatry Jun 2017Pharmacogenomic testing has become scalable and available to the general public. Pharmacogenomics has shown promise for predicting antidepressant response and... (Review)
Review
OBJECTIVE
Pharmacogenomic testing has become scalable and available to the general public. Pharmacogenomics has shown promise for predicting antidepressant response and tolerability in the treatment of major depressive disorder (MDD). In theory, pharmacogenomics can improve clinical outcomes by guiding antidepressant selection and dosing. The current systematic review examines the extant literature to determine the impact of pharmacogenomic testing on clinical outcomes in MDD and assesses its cost-effectiveness.
DATA SOURCES
The MEDLINE/PubMed and Google Scholar databases were systematically searched for relevant articles published prior to October 2015. Search terms included various combinations of the following: major depressive disorder (MDD), depression, mental illness, mood disorder, antidepressant, response, remission, outcome, pharmacogenetic, pharmacogenomics, pharmacodynamics, pharmacokinetic, genetic testing, genome wide association study (GWAS), CYP450, personalized medicine, cost-effectiveness, and pharmacoeconomics.
STUDY SELECTION
Of the 66 records identified from the initial search, relevant clinical studies, written in English, assessing the cost-effectiveness and/or efficacy of pharmacogenomic testing for MDD were included.
DATA EXTRACTION
Each publication was critically examined for relevant data.
RESULTS
Two nonrandomized, open-label, 8-week, prospective studies reported overall greater improvement in depressive symptom severity in the group of MDD subjects receiving psychiatric care guided by results of combinatorial pharmacogenomic testing (GeneSight) when compared to the unguided group. One industry-sponsored, randomized, double-blind, 10-week prospective study reported a trend for improved outcomes for the GeneSight-guided group; however, the trend did not reach statistical significance. Another industry-sponsored, randomized, double-blind, 12-week prospective study reported a 2.5-fold increase in remission rates in the CNSDose-guided group (P < .0001). One naturalistic, unblinded, industry-sponsored study showed clinical improvement when pharmacogenomics testing guided prescribing; however, this study lacked a control group. A single cost-effectiveness study concluded that single gene testing was not cost-effective. Conversely, a separate study reported that combinatorial pharmacogenomic testing is cost-effective.
CONCLUSIONS
A limited number of studies have shown promise for the clinical utility of pharmacogenomic testing; however, cost-effectiveness of pharmacogenomics, as well as demonstration of improved health outcomes, is not yet supported with replicated evidence.
Topics: Clinical Trials as Topic; Cost-Benefit Analysis; Depressive Disorder, Major; Humans; Outcome and Process Assessment, Health Care; Pharmacogenomic Testing
PubMed: 28068459
DOI: 10.4088/JCP.15r10583 -
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 -
Patient Education and Counseling Nov 2019To support the introduction of pharmacogenomic tests in current practice, this study identifies the factors associated with a better understanding of the information... (Review)
Review
OBJECTIVE
To support the introduction of pharmacogenomic tests in current practice, this study identifies the factors associated with a better understanding of the information related to genetic, genomic and/or pharmacogenomic tests by patients and health care professionals.
METHODS
Following a scoping review methodology, a search for literature was conducted with keywords related to health literacy and knowledge translation in the context of pharmacogenomic tests. Since only 6 articles were identified, the context of genetic or genomic testing were added to the inclusion criteria, leading to 24 articles.
RESULTS
Fourteen of the studies analyzed focused on genetic predictive, diagnostic or carrier tests, or concerned genetics in general, while ten addressed or included the use of pharmacogenomic tests. Demographic, individual, experiential and contextual factors were associated with a better understanding of the information related to genetic, genomic and/or pharmacogenomic tests among the targeted populations.
RESEARCH IMPLICATIONS
Our review shows that there is currently little empirical research available to identify the factors to consider in order to develop educational tools and resources specific to pharmacogenomics.
CONCLUSION
Expanding our review to include genetic and genomic testing factors can serve as a starting point for the evidence to be validated in future empirical research.
Topics: Health Knowledge, Attitudes, Practice; Health Literacy; Health Personnel; Humans; Patients; Pharmacogenomic Testing
PubMed: 31229328
DOI: 10.1016/j.pec.2019.06.008