Testing In Psychiatry Research Articles

Pharmacogenomics in Psychiatry: An Asian Perspective

IntroductionPharmacogenomic testing in psychiatry is an emerging area with the potential clinical application of guiding medication choice and dosing. However, this has not been adopted widely due to a combination of barriers that include a varying evidence base, clinician and patient familiarity and acceptance, uncertainty about cost-effectiveness, and regulatory requirements.ObjectivesThis review aims to examine recent updates in this field and provide a contextualised summary and recommendations for Asian populations. The recommendations serve to guide healthcare professionals in the utility of pharmacogenomic testing in psychiatric practice.MethodsA review of recent literature about current evidence and guidelines surrounding pharmacogenomics in psychiatric practice was carried out with particular attention paid to literature evaluating Asian populations. Literature was reviewed for the different classes of psychotropics with supplementary information about Asian populations included where available. Existing evidence about combinatorial pharmacogenomic panels was also reviewed.ResultsIn line with the available body of evidence, we recommend that pharmacogenomic testing should be employed as an augmenting tool to guide medication selection and dosing in certain clinical situations, and not as part of standard or routine clinical practice. Pharmacogenomic testing should also be mainly limited to the known drug-gene pairs such as the anti-depressants and CYP2C19 or CYP2D6. Clinicians should also be aware that many of the gene-drug associations have not been evaluated for clinical outcomes. Combinatorial pharmacogenomic panels are not presently recommended as there is limited and inconclusive available evidence on clinical outcomes.ConclusionsPharmacogenomic testing in psychiatry is not recommended as standard or routine clinical practice. Exceptions may include concerns about drug concentrations (due to metaboliser status) or potential severe adverse drug reactions/ Pharmacogenomic testing should be mainly limited to the known drug-gene pairs such as the anti-depressants and CYP2C19 or CYP2D6.Disclosure of InterestNone Declared

The Application of Pharmacogenetic Testing in Psychiatry for Treatment-Resistant Disorders: Optimal Timing and Implementation, a literature review

IntroductionTreatment-resistant psychiatric disorders present a significant clinical challenge, often requiring trial-and-error approaches to find effective therapeutic interventions. Pharmacogenetic testing has emerged as a promising tool to guide medication selection and dosing, potentially reducing the time to achieve remission and alleviating the burden of persistent symptoms. However, the optimal timing and integration of pharmacogenetic testing into psychiatric practice remain underexplored.ObjectivesPharmacogenetic tests can identify individuals with genetic variants that may predict their response to psychotropic drugs, thus enabling a more personalized approach to treatment. Evidence suggests that early application of pharmacogenetic testing, particularly after the first failed medication trial, can substantially improve outcomes for patients with treatment-resistant disorders. Such timely intervention can inform drug choice and dosing, averting protracted periods of ineffective treatment and minimizing exposure to unnecessary side effects.MethodsThis review synthesizes current literature on pharmacogenetic testing in psychiatry, with a focus on its application in treatment-resistant mood disorders, schizophrenia, and other non-responsive psychiatric conditions. We examine the genetic polymorphisms that influence drug metabolism, efficacy, and the risk of adverse effects, particularly considering cytochrome P450 enzymes and receptor gene variations.ResultsPharmacogenetic testing holds significant promise in psychiatry, especially for treatment-resistant disorders, by aligning genetic profiles with medication selection to enhance therapeutic efficacy. While cost and access remain barriers, the benefits of early testing support its integration into standard care protocols. Further research is needed to establish clear guidelines and to expand the genetic targets relevant to psychiatric pharmacotherapy.ConclusionsAdoption of pharmacogenetic testing after the initial treatment failure offers a pragmatic balance between the practical limitations of universal screening and the clinical imperative to alleviate the substantial morbidity associated with treatment-resistant psychiatric conditions.Disclosure of InterestNone Declared

Predictive Pharmacogenetic Testing in Psychiatry: Pros and Cons

Pharmacogenetic testing (PGx) is an important diagnostic tool for achieving an optimal balance between the effectiveness and safety of psychotropic drugs, especially those requiring long-term use. The most prescribed medications in psychiatric practice are antipsychotics (APs). Despite the long period of use of APs, their safety profile remains insufficiently high. Due to the high incidence of adverse drug reactions (ADRs), from the central nervous system (CNS) and other organs and tissues of the human body. Therapeutic drug monitoring can help predict and diagnose AP-induced ADRs only if the patient is receiving APs. PGx helps to individually select an AP, its dose and clarify the risk of ADRs before prescribing an AP, or at the start of therapy. This explains the importance of PGx in psychiatrist practice. However, to date, most practicing psychiatrists rarely use predictive PGx or do not use this method. PGx is more often prescribed in the case of a long history of un-successful AP-therapy, or in the case of the development of serious ADRs, the risk of which could be significantly reduced if predictive PGx was used. This case report of PGx in a 56-year-old woman with severe bipolar disorder demonstrates that the trajectory of ADRs and socialization could be significantly improved if this method was prescribed before the initiation of APs, rather than in the event of the development of serious ADRs.

The polymorphisms of candidate pharmacokinetic and pharmacodynamic genes and their pharmacogenetic impacts on the effectiveness of risperidone maintenance therapy among Saudi children with autism.

Antipsychotics, including risperidone (RIS), are frequently indicated for various autism spectrum disorder (ASD) manifestations; however, "actionable" PGx testing in psychiatry regarding antipsychotic dosing and selection has limited applications in routine clinical practice because of the lack of standard guidelines, mostly due to the inconsistency and scarcity of genetic variant data. The current study is aimed at examining the association of RIS effectiveness, according to ABC-CV and CGI indexes, with relevant pharmacokinetics (PK) and pharmacodynamics (PD) genes. Eighty-nine ASD children who received a consistent RIS-based regimen for at least 8weeks were included. The Axiom PharmacoFocus Array technique was employed to generate accurate star allele-predicted phenotypes of 3 PK genes (CYP3A4, CYP3A5, and CYP2D6). Genotype calls for 5 candidate PD receptor genes (DRD1, DRD2, DRD3, HTR2C, and HTR2A) were obtained and reported as wild type, heterozygous, or homozygous for 11 variants. Based on the ABC total score, 42 (47.2%) children were classified as responders, while 47 (52.8%) were classified as nonresponders. Multivariate logistic regression analyses, adjusted for nongenetic factors, suggested nonsignificant impacts of the star allele-predicted phenotypes of all 3 PK genes on improvement in ASD symptoms or CGI scores. However, significant positive or negative associations of certain PD variants involved in dopaminergic and serotonergic pathways were observed with specific ASD core and noncore symptom subdomains. Our significant polymorphism findings, mainly those in DRD2 (rs1800497, rs1799978, and rs2734841), HTR2C (rs3813929), and HTR2A (rs6311), were largely consistent with earlier findings (predictors of RIS effectiveness in adult schizophrenia patients), confirming their validity for identifying ASD children with a greater likelihood of core symptom improvement compared to noncarriers/wild types. Other novel findings of this study, such as significant improvements in DRD3 rs167771 carriers, particularly in ABC total and lethargy/social withdrawal scores, and DRD1 rs1875964 homozygotes and DRD2 rs1079598 wild types in stereotypic behavior, warrant further verification in biochemical and clinical studies to confirm their feasibility for inclusion in a PGx panel. In conclusion, we provide evidence of potential genetic markers involved in clinical response variability to RIS therapy in ASD children. However, replication in prospective samples with greater ethnic diversity and sample sizes is necessary.

Shorter Yet Accurate Measurements with Computerized Adaptive Testing in Psychiatry

Shorter Yet Accurate Measurements with Computerized Adaptive Testing in Psychiatry

Widespread pharmacogenomic testing in psychiatry needs a stronger evidence base

Widespread pharmacogenomic testing in psychiatry needs a stronger evidence base

A survey in Austria supports the significance of genetic counseling and pharmacogenetic testing for mental illness.

Genetic counseling and testing in psychiatry warrant attention, but research results on attitude, knowledge, personal experience and interest are limited. There are only a few studies that have compared the opinions of the general population and experts regarding genetic counseling and genetic testing in mental illness. This study aimed to investigate these gaps through a cross-sectional survey conducted in Austria, involving a sample of the web-active population, representative according to gender, age and geographical location (n=1,000, 24.5% of them had a psychiatric diagnosis), and experts (n=145, 83.4% of them psychiatrists). Two questionnaires were developed. Pearson chi-square statistics were used to compare responses, and regression analyses were employed to measure the strength of psycho-sociodemographic influences on answers. The findings revealed that public considered genetic counseling to be more important than experts did (68.8% versus 54.2%; Pearson chi-square 12.183; df=1; p<0.001). The general population believed that genetic testing is useful for diagnosing mental disorders, which contrasted with experts' opinions (67.9% versus 17.2%; Pearson chi-square 137.236; df=1; p<0.001). Both groups agreed on the potential benefits of pharmacogenetic testing (79% versus 80%). A small number of individuals from the public had sought genetic counseling (8%), and only a minority of experts had specific training and experience in this field (28%). This is the first survey study on the topic conducted in Austria, with limited international studies available. Austrian experts place less value on genetic counseling compared to their counterparts in other countries. Despite recognized importance placed on genetic counseling and testing, utilization rates remain low. The value of pharmacogenetics is predicted to increase in the future. Consequently, it is crucial for medical training programs to emphasize the significance of genetic counseling and enhance the understanding of genetic aspects related to mental illnesses to enable experts to provide adequate psychoeducation and personalized care to the extent possible to patients and their families.

User Experiences of Pharmacogenomic Testing and Opinions among Psychiatry Patients.

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.

A Narrative Review on Pharmacogenomics in Psychiatry

Purpose/Background Pharmacogenetics (PGx) studies the genetic factors underlying interindividual variability in drug response. Only a few countries around the world are already using PGx testing in psychiatric clinical practice, whereas others are still far from adopting it. The main barrier to the clinical adoption of PGx testing seems to be the limited knowledge among psychiatrists regarding the clinical relevance of specific genetic variants to personalize therapies and the accessibility of PGx data. This review aims at further highlighting the importance of PGx-driven clinical decision making for psychotropic medications and raising psychiatrists' awareness of the value of PGx testing in psychiatry. Methods/Procedures We summarize the genes for which substantial evidence exists about the clinical utility of integrating their PGx testing in psychiatry. Specifically, we systematically describe the functional role of clinically relevant allelic variants, their frequency across different ethnic groups, and how they contribute to classify patients in relation to their capability in metabolizing psychotropic drugs. Findings/Results Briefly, clinical guidelines recommend considering PGx testing of the cytochrome class 2 C9 (CYP2C9), C19 (CYP2C19), and D6 (CYP2D6) genes and the human leukocyte antigen (HLA)-A and -B genes for several psychotropic drugs. Implications/Conclusions Extensive studies have been carried out to provide a solid rationale for the inclusion of PGx testing in psychiatry. Comprehensive clinical guidelines are readily accessible to support health care providers in tailoring the prescription of psychotropic drugs based on patient's genotype information. This approach presents a tangible opportunity to significantly improve individual responses to psychiatric medications.

Utility of pharmacogenetic testing to optimise antidepressant pharmacotherapy in youth: a narrative literature review.

Pharmacogenetics (PGx) is the study and application of how interindividual differences in our genomes can influence drug responses. By evaluating individuals' genetic variability in genes related to drug metabolism, PGx testing has the capabilities to individualise primary care and build a safer drug prescription model than the current "one-size-fits-all" approach. In particular, the use of PGx testing in psychiatry has shown promising evidence in improving drug efficacy as well as reducing toxicity and adverse drug reactions. Despite randomised controlled trials demonstrating an evidence base for its use, there are still numerous barriers impeding its implementation. This review paper will discuss the management of mental health conditions with PGx-guided treatment with a strong focus on youth mental illness. PGx testing in clinical practice, the concerns for its implementation in youth psychiatry, and some of the barriers inhibiting its integration in clinical healthcare will also be discussed. Overall, this paper provides a comprehensive review of the current state of knowledge and application for PGx in psychiatry and summarises the capabilities of genetic information to personalising medicine for the treatment of mental ill-health in youth.

Pharmacogenetic testing in psychiatry: Perspective on clinical utility.

Pharmacogenetic studies the influence of inherited characteristics on medication. While different from pharmacogenomics, which is a study of the entire genome in relation to medication effect, their distinction remains inconsistent, and the two terms are used interchangeably. Although the potential of pharmacogenomics in psychiatry is apparent and its clinical utility is suboptimal, the uptake of recommendations and guidelines is minimal and research into PGx is not diverse. This article offers an overview of pharmacogenetics (PGx) in psychiatry, explores the difficulties, and provides recommendations on improving its applicability and clinical utility.

Clinical Impact of Functional CYP2C19 and CYP2D6 Gene Variants on Treatment with Antidepressants in Young People with Depression: A Danish Cohort Study.

Background: The clinical impact of the functional CYP2C19 and CYP2D6 gene variants on antidepressant treatment in people with depression is not well studied. Here, we evaluate the utility of pharmacogenetic (PGx) testing in psychiatry by investigating the association between the phenotype status of the cytochrome P450 (CYP) 2C19/2D6 enzymes and the one-year risks of clinical outcomes in patients with depression with incident new-use of (es)citalopram, sertraline, or fluoxetine. Methods: This study is a population-based cohort study of 17,297 individuals who were born between 1981 and 2005 with a depression diagnosis between 1996 and 2012. Using array-based single-nucleotide-polymorphism genotype data, the individuals were categorized according to their metabolizing status of CYP2C19/CYP2D6 as normal (NM, reference group), ultra-rapid- (UM), rapid- (RM), intermediate- (IM), or poor-metabolizer (PM). The outcomes were treatment switching or discontinuation, psychiatric emergency department contacts, and suicide attempt/self-harm. By using Poisson regression analyses, we have estimated the incidence rate ratios (IRR) with 95% confidence intervals (95% CI) that were adjusted for covariates and potential confounders, by age groups (<18 (children and adolescents), 19–25 (young adults), and 26+ years (adults)), comparing the outcomes in individuals with NM status (reference) versus the mutant metabolizer status. For statistically significant outcomes, we have calculated the number needed to treat (NNT) and the number needed to genotype (NNG) in order to prevent one outcome. Results: The children and adolescents who were using (es)citalopram with CYP2C19 PM status had increased risks of switching (IRR = 1.64 [95% CI: 1.10–2.43]) and suicide attempt/self-harm (IRR = 2.67 [95% CI; 1.57–4.52]). The young adults with CYP2C19 PM status who were using sertraline had an increased risk of switching (IRR = 2.06 [95% CI; 1.03–4.11]). The young adults with CYP2D6 PM status who were using fluoxetine had an increased risk of emergency department contacts (IRR = 3.28 [95% CI; 1.11–9.63]). No significant associations were detected in the adults. The NNG for preventing one suicide attempt/suicide in the children who were using (es)citalopram was 463, and the NNT was 11. Conclusion: The CYP2C19 and CYP2D6 PM phenotype statuses were associated with outcomes in children, adolescents, and young adults with depression with incident new-use of (es)citalopram, sertraline, or fluoxetine, therefore indicating the utility of PGx testing, particularly in younger people, for PGx-guided antidepressant treatment.

Approaches and hurdles of implementing pharmacogenetic testing in the psychiatric clinic.

Pharmacogenetic (PGx) testing has emerged as a tool for predicting a person's ability to process and react to drugs. Despite the growing evidence-base, enthusiasm, and successful efforts to implement PGx testing in psychiatry, a consensus on how best to implement PGx testing into practice has not been established and numerous hurdles to widespread adoption remain to be overcome. In this article, we summarize the most used approaches and commonly encountered hurdles when implementing PGx testing into routine psychiatric care. We also highlight effective strategies that have been used to overcome hurdles. These strategies include the development of user-friendly clinical workflows for test ordering, use, and communication of results, establishment of test standardization and reimbursement policies, and development of tailored curriculums for educating health-care providers and the public. Although knowledge and awareness of these approaches and strategies to overcome hurdles alone may not be sufficient for successful implementation, they are necessary to ensure the effective spread, scale, and sustainability of PGx testing in psychiatry and other areas of medicine.

Image testing in psychiatrics: a bibliografic review

IntroductionPsychoradiology is a term that describes a growing interest in relating psychiatry and radiological images, proposing a radiological approach in the management of major psychiatric illnesses. This includes the diagnosis, the planning of the treatment and the study of the clinical course.ObjectivesThe objective of this communication is to review the current status of the importance and indications of neuroimaging tests in psychiatry.MethodsA literature review has been carried out to review this issue.Results In schizophrenia, longitudinal studies have been carried out that compare the anatomical structures between a first psychotic episode and in a chronic state, locating regional changes that progress as the disease does. Anatomical alterations have also been detected among patients with a predominance of positive symptoms or negative symptoms. Although more and more studies demonstrate a certain common genetic and radiological basis between bipolar disorder and schizophrenia, imaging techniques can also show specific findings that differentiate one pathology from the other. The neuroimaging tests used in psychiatry are: • Brain CT, recommended when a first psychotic episode is suspected. • MRI: recommended in processes of cognitive deterioration, to evaluate white matter and for pregnant patients. It is also recommended to evaluate injuries that could have a poor prognosis with the application of electroconvulsive therapy. • Functional tests (PET and SPECT) are often used to screen some types of dementia such as Alzheimer’s or for research.ConclusionsNew advances and knowledge in psychiatry and radiology must be integrated for better clinical practice.DisclosureNo significant relationships.

Clinical impact of functional CYP2C19 and CYP2D6 gene variants on treatment outcomes in patients with depression: a Danish cohort study

IntroductionPharmacogenetic (PGx) targets to optimize drug therapy, but its implementation is rare.ObjectivesWe evaluate the clinical utility of PGx testing in psychiatry by investigating the one-year risks of clinical outcomes in patients with depression taking sertraline, (es)citalopram or fluoxetine by their Cytochrome P450 (CYP) 2C19/2D6 phenotypes.MethodsWe investigated 17,297 individuals born between 1981-2005 with a depression diagnosis between 1996-2012 from the iPsych2012 case-cohort. Based on array-based single-nucleotide-polymorphism genotype data, individuals were phenotyped as CYP2C19/CYP2D6 normal (NM, reference group), ultra-rapid- (UM), rapid- (RM), intermediate- (IM), or poor-metabolizer (PM). Outcomes were treatment switching or discontinuation, psychiatric in-, out-, and emergency room contacts (ER), and suicide attempt/self-harm. Incidence rate ratios (IRR) by age groups were estimated using Poisson regression analysis with 95% confidence intervals, adjusted for potential confounders.ResultsRisks of switching (IRR=1.89[1.22-2.93]), ERs (1.69 [1.01-2.81]) and suicide attempt/self-harm (2.73 [1.49-5.01]) were higher in CYP2C19 PMs &lt;19 years taking (es)citalopram. Fluoxetine users &lt;19 years had a decreased risk of discontinuation in CYP2D6 PMs (0.5 [0.27-0.95]) and decreased risk of out-patient contacts in CYP2D6 PMs and IMs (IRRIM=0.83 [0.68-1.00] and IRRPM=0.59 [ 0.37-0.96]). We observed an increased risk for ERs in CYP2D6 PMs aged 19-25 years taking fluoxetine (4.53 [1.54-13.35]). In CYP2C19 UMs &gt;25 years taking (es)citalopram the risk of suicide attempt/self-harm was more than three-fold increased (3.64 [ 1.01-13.19]). We found no significant results in users of sertraline.ConclusionsPGx variability was associated with treatment outcomes in depression in patients with CYP2C19 PM or UM status taking (es)citalopram, or CYP2D6 PM or IM status taking fluoxetine.DisclosureNo significant relationships.

Use of a consultation service following pharmacogenetic testing in psychiatry.

The emerging discipline of pharmacogenetics(PGx) has the goal of aiding the selection of effective therapies and personalized dosing, decreasing the likelihood of adverse drug reactionsand optimizing resource utilization. Simultaneously, the rapid evolution of economically feasible genetic testing technologies has resulted in a raft of commercial entities that provide genetic data to providers for use with their complex patients. The adoption of pharmacogenomics in psychiatry is growing, but itis limited by severalfactors, including the limitless permutations of drugs, comorbid conditions and concomitant medications and provider understanding of phenomena such as phenoconversion. We established an expert PGx consultation service for psychiatric providers who utilize our commercial PGx assay. To date, this service has provided ∼16,000 consults with extremely high levels of satisfaction; in an anonymous survey, 96% of respondents reported a rating of "very helpful" or "extremely helpful".

Pre-prescription testing in psychiatry: An overview

Pre-prescription testing in psychiatry: An overview

The use of pharmacogenetic testing in psychiatry.

Psychiatric pharmacogenetic testing is commonly used by providers in primary care and mental health settings. The purpose of this article is to describe the extent to which psychiatric pharmacogenetic testing supports clinical practice. human leukocyte antigen (HLA)-A and HLA-B should be tested before initiating carbamazepine and oxcarbazepine due to risk of serious skin reactions. For psychotropic medications metabolized through the liver, limited evidence suggests testing for variation in metabolism through CYP2D6 and CYP2D19. For specific medication and genotype-phenotype variations, guidance through the Clinical Pharmacogenetics Implementation Consortium (CPIC) or the International Society of Psychiatric Genetics (ISPG) should be reviewed. Commercial tests interpret this information differently and should not be used for broad guidance. Clinicians should follow current guidelines from professional bodies such as CPIC or ISPG and test for HLA-A or HLA-B before initiating carbamazepine or oxcarbazepine. Evidence is limited for psychiatric pharmacogenetic testing. Clinicians should continue to follow best practice and clinical practice guidelines.

Demystifying genetic jargon in psychiatry

SUMMARYGenetic testing in psychiatry is becoming more common, but psychiatrists often receive little training in it. Given the pace of change in genetics, understanding the current methods of testing and their associated merits and limitations can therefore be challenging for some. This narrative, written for psychiatrists in the clinic, aims to cut through the jargon and describe current genetic testing techniques and their evolution from previous methods. It discusses benefits and risks of testing, how geneticists decide whether genetic variants are pathogenic, terminology found in genetic test results and how best to support patients with genetic diagnoses. It also describes methods used to study the genetics of polygenic disorders. It is anticipated this will facilitate a greater understanding of genetic testing and promote confidence among psychiatrists to discuss its clinical utility and implications with patients.

Pharmacogenetic testing in psychiatry and neurology: an overview of reviews.

Pharmacogenetic testing is available to healthcare professionals to guide drug selection and prevent adverse events. However, its implementation in the clinical practice of psychiatry/neurology still has barriers, mainly due to a lack of evidence. We conducted a literature search on Cochrane Library, Embase and Pubmed, from their inception to 18 June 2020. We included 16 published systematic reviews. The most studied drug categories were anticonvulsants and selective serotonin reuptake inhibitors associated with human leukocyte antigen and cytochrome P450 genes (HLA-A, HLA-B, CYP2C9, CYP2D6, CYP2C19), classified as critically lowquality/low quality. There is a need for more robust studies with adequate design to assess the potential benefits of adopting pharmacogenetics in health systems and services.