“Black box” pharmacogenetic decision-support tools in psychiatry

Bousman, Chad A.; Eyre, Harris A.

doi:10.1590/1516-4446-2019-0724

Cited by 7 publications

(7 citation statements)

References 4 publications

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“…As a result, the probability that a healthcare provider will be presented with PGx testing results is expected to increase ( Bousman et al, 2019 ). This situation can be problematic in that many healthcare providers do not feel comfortable or confident using these test results due, in part, to concerns about the validity of the recommendations ( Veilleux et al, 2020 ) or lack of transparency in how the recommendations were derived ( Bousman and Eyre, 2020 ). In these cases, Sequence2Script can serve as a second opinion.…”

Section: Resultsmentioning

confidence: 99%

Sequence2Script: A Web-Based Tool for Translation of Pharmacogenetic Data Into Evidence-Based Prescribing Recommendations

Bousman

Aitchison

et al. 2021

Front. Pharmacol.

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Pharmacogenomic (PGx) testing has emerged as an effective strategy for informing drug selection and dosing. This has led to an increase in the use of PGx testing in the clinic and has catalyzed the emergence of a burgeoning commercial PGx testing industry. However, not all PGx tests are equivalent in their approach to translating testing results into prescribing recommendations, due to an absence of regulatory standards. As such, those generating and using PGx data require tools for ensuring the prescribing recommendations they are provided align with current peer-reviewed PGx-based prescribing guidelines developed by expert groups or approved product labels. Herein, we present Sequence2Script (sequence2script.com), a simple, free, and transparent web-based tool to assist in the efficient translation of PGx testing results into evidence-based prescribing recommendations. The tool was designed with a wide-range of user groups (e.g., healthcare providers, laboratory staff, researchers) in mind. The tool supports 97 gene-drug pairs with evidence-based prescribing guidelines, allows users to adjust recommendations for concomitant inhibitors and inducers, and generates a clinical report summarizing the patient’s genotype, inferred phenotype, phenoconverted phenotype (if applicable), and corresponding prescribing recommendations. In this paper, we describe each of the tool’s features, provide use case examples, and discuss limitations of and future development plans for the tool. Although we recognize that Sequecnce2Script may not meet the needs of every user, the hope is that this novel tool will facilitate more standardized use of PGx testing results and reduce barriers to implementing these results into practice.

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Section: Resultsmentioning

confidence: 99%

Sequence2Script: A Web-Based Tool for Translation of Pharmacogenetic Data Into Evidence-Based Prescribing Recommendations

Bousman

Aitchison

et al. 2021

Front. Pharmacol.

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“…Despite ongoing enthusiasm for the concept of precision medicine, to date, it is largely industry-driven research that has been the mainstay, and there is ongoing need for independent replication of findings despite positive meta-analytic data suggesting remission rates can be doubled with genetically guided antidepressant prescribing (Bousman et al, 2018; Bousman and Eyre, 2020). At this stage – other than HLA testing of carbamazepine among patients of Asian ethnicity (Shnayder et al, 2020) – precision medicine in psychiatry remains an area of much promise, but one in need of firmer independent RCT data before it can be adopted widely (Thompson et al, 2015).…”

Section: Management Of Major Depressive Disordermentioning

confidence: 99%

The 2020 Royal Australian and New Zealand College of Psychiatrists clinical practice guidelines for mood disorders

Malhi

Bell

Bassett³

et al. 2020

Aust N Z J Psychiatry

275

302

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Objectives: To provide advice and guidance regarding the management of mood disorders, derived from scientific evidence and supplemented by expert clinical consensus to formulate s that maximise clinical utility. Methods: Articles and information sourced from search engines including PubMed, EMBASE, MEDLINE, PsycINFO and Google Scholar were supplemented by literature known to the mood disorders committee (e.g. books, book chapters and government reports) and from published depression and bipolar disorder guidelines. Relevant information was appraised and discussed in detail by members of the mood disorders committee, with a view to formulating and developing consensus-based recommendations and clinical guidance. The guidelines were subjected to rigorous consultation and external review involving: expert and clinical advisors, key stakeholders, professional bodies and specialist groups with interest in mood disorders. Results: The Royal Australian and New Zealand College of Psychiatrists mood disorders clinical practice guidelines 2020 (MDcpg2020) provide up-to-date guidance regarding the management of mood disorders that is informed by evidence and clinical experience. The guideline is intended for clinical use by psychiatrists, psychologists, primary care physicians and others with an interest in mental health care. Conclusion: The MDcpg2020 builds on the previous 2015 guidelines and maintains its joint focus on both depressive and bipolar disorders. It provides up-to-date recommendations and guidance within an evidence-based framework, supplemented by expert clinical consensus. Mood disorders committee: Gin S Malhi (Chair), Erica Bell, Darryl Bassett, Philip Boyce, Richard Bryant, Philip Hazell, Malcolm Hopwood, Bill Lyndon, Roger Mulder, Richard Porter, Ajeet B Singh and Greg Murray.

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“…However, this process remains inconsistent across test providers and no gold standard approach exists. Some providers combine information from several genes (combinatorial approach) and employ proprietary algorithms that utilize-to varying degrees-the published literature, product labels, and/or guidelines developed by expert groups to derive recommendations [97]. This variability in genotype to phenotype translation and clinical decision support from one test provider to another can lead to potential discordant recommendations [98].…”

Section: Test Results Interpretation and Deliverymentioning

confidence: 99%

Review and Consensus on Pharmacogenomic Testing in Psychiatry

et al. 2020

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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 (CYP2D6, CYP2C19). In addition, the evidence supports testing for human leukocyte antigen genes when using the mood stabilizers carbamazepine (HLA-A and HLA-B), oxcarbazepine (HLA-B), and phenytoin (CYP2C9, HLA-B). For valproate, screening for variants in certain genes (POLG, OTC, CSP1) 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.

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“Black box” pharmacogenetic decision-support tools in psychiatry

Cited by 7 publications

References 4 publications

Sequence2Script: A Web-Based Tool for Translation of Pharmacogenetic Data Into Evidence-Based Prescribing Recommendations

Sequence2Script: A Web-Based Tool for Translation of Pharmacogenetic Data Into Evidence-Based Prescribing Recommendations

The 2020 Royal Australian and New Zealand College of Psychiatrists clinical practice guidelines for mood disorders

Review and Consensus on Pharmacogenomic Testing in Psychiatry

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