Encountering Pharmacogenetic Test Results in the Psychiatric Clinic.
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ABSTRACT:
SUBMITTER: Bousman CA
PROVIDER: S-EPMC8892046 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Publications
Encountering Pharmacogenetic Test Results in the Psychiatric Clinic.
Bousman Chad A CA Mukerjee Gouri G Men Xiaoyu X Dorfman Ruslan R Müller Daniel J DJ Thomas Roger E RE
Canadian journal of psychiatry. Revue canadienne de psychiatrie 20211116 2
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Project description:Pharmacogenomic (PGx) testing is being increasingly recognized by clinicians as an essential tool to guide medication decisions for treatment of psychiatric illnesses. Extensive implementation of PGx testing, however, varies by setting and location. In this retrospective study, we reviewed charts from 592 patients diagnosed with a psychiatric disorder at the Loyola University Medical Center, for whom PGx testing was performed. Information collected included demographics at the time of testing, psychiatric diagnosis, medical and psychiatric history and medications prior and after PGx testing. Of the 592 charts analyzed, the most common primary diagnoses were depression (52%) and anxiety (12%). Prior to PGx testing, 72% of patients were prescribed three or more medications, whereas, after testing, only 44% were prescribed three or more medications included in the test panel (p < 0.0001). The most common clinical consideration on the PGx reports was recommendation to reduce dosages (33%). After PGx testing, the proportion of patients taking incongruent medications decreased from 26% to 19% and that of patients taking congruent medications increased from 74% to 81% (p = 0.006). The results from this retrospective data analysis demonstrated a reduction in polypharmacy and an increase in recommendation-congruent medication prescribing resulting from implementation of PGx testing.
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Project description:IntroductionReporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goal was to develop terms that can be broadly applied to characterize pharmacogenetic allele function and inferred phenotypes.Materials and methodsTerms currently used by genetic testing laboratories and in the literature were identified. The Clinical Pharmacogenetics Implementation Consortium (CPIC) used the Delphi method to obtain a consensus and agree on uniform terms among pharmacogenetic experts.ResultsExperts with diverse involvement in at least one area of pharmacogenetics (clinicians, researchers, genetic testing laboratorians, pharmacogenetics implementers, and clinical informaticians; n = 58) participated. After completion of five surveys, a consensus (>70%) was reached with 90% of experts agreeing to the final sets of pharmacogenetic terms.DiscussionThe proposed standardized pharmacogenetic terms will improve the understanding and interpretation of pharmacogenetic tests and reduce confusion by maintaining consistent nomenclature. These standard terms can also facilitate pharmacogenetic data sharing across diverse electronic health care record systems with clinical decision support.Genet Med 19 2, 215-223.
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Project description:BackgroundHigh comorbidity exists between mental illness and substance use disorders (SUD). Patients in psychiatry living with problematic alcohol or drug consumption can experience a sense of exclusion, where seeking help for SUD can be perceived as stigmatizing. The aim of this study is to illuminate staff experiences of encountering patients with SUD within the psychiatric outpatient context.MethodsThe study was exploratory, with a qualitative design. Interviews with outpatient psychiatry managers and focus groups with clinical staff focused on the experience of encountering patients with SUD. Data were evaluated using content analysis inspired by phenomenological-hermeneutic methodology.ResultsThree themes were identified and each illuminated by two sub-themes. Bridging the organizational gap included sub-themes of having an established collaboration and facing difficulties in the collaboration; Having beliefs about the patient you encounter included sub-themes of working with patients who are exposed to prejudicial thoughts and expressing prejudicial thoughts about the patient. Striving to achieve a therapeutic alliance included sub-themes of having a feeling of developing together and supporting the patient towards recovery.ConclusionA life-world perspective, used to interpret results, indicated that caring for patients with SUD in psychiatry was perceived as difficult, where collaboration between psychiatry and addiction care was often experienced as problematic. Based on these findings, we believe that the current gap between the psychiatry and addiction care could be reduced to some extent by offering patients digital treatment for SUD. In this way, patients could remain under the care of their regular psychiatric clinic without having to physically visit SUD services. Thus, a virtual bridge could be established to bring psychiatry and addiction care closer to each other for the patients' benefit.
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Project description:Clozapine is the only evidence-based therapy for treatment-resistant schizophrenia, but it induces agranulocytosis, a rare but potentially fatal haematological adverse reaction, in less than 1% of users. To improve safety, the drug is subject to mandatory haematological monitoring throughout the course of treatment, which is burdensome for the patient and one of the main reasons clozapine is underused. Therefore, a pharmacogenetic test is clinically useful if it identifies a group of patients for whom the agranulocytosis risk is low enough to alleviate monitoring requirements. Assuming a genotypic marker stratifies patients into a high-risk and a low-risk group, we explore the relationship between test sensitivity, group size and agranulocytosis risk. High sensitivity minimizes the agranulocytosis risk in the low-risk group and is essential for clinical utility, in particular in combination with a small high-risk group.
| S-EPMC4762904 | biostudies-other
Project description:Pharmacogenetic (PGx) testing is a tool to identify patients at a higher risk of adverse events or treatment failure. The concern for unwanted side effects can limit medication adherence, particularly in children and adolescents. We conducted a pragmatic study to evaluate the acceptability and feasibility and gather pilot data on the utility of PGx testing in a child and adolescent psychiatry clinic. Both physicians and families participated in the study and answered pre-survey and post-survey questionnaires to examine their attitudes toward PGx testing. Patients were randomized into implementation (N = 25) and control groups (N = 24) and underwent PGx testing at the beginning or end of the study, respectively. Clinical consult notes with genotype-guided recommendations were provided to physicians for their consideration in clinical decisions. Patient-reported symptom severity and antidepressant-related side effects were assessed at baseline and for 12 weeks. Both participating physicians and families agreed that PGx testing is a useful tool to improve medication selection. The time from sample collection to having PGx test results was ~ 10 days and 15 days to having consult notes available, which may have impaired test utility in clinical decision making. There were no differences in any clinical end point between the implementation and control arms; however, there were higher antidepressant side effect scores for CYP2D6 poor and intermediate metabolizers after the eighth week of treatment. Our findings revealed benefits and pitfalls with the use of PGx testing in the real-world clinical setting, which may inform the methodology of a larger trial focused on outcomes.
| S-EPMC7993320 | biostudies-literature
Project description:This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
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Project description:BackgroundMost people referred to rapid access chest pain clinics have non-cardiac chest pain, and in those diagnosed with stable coronary heart disease, guidance recommends that first-line treatment is usually medication rather than revascularisation. Consequently, many patients are not reassured they have the correct diagnosis or treatment. A previous trial reported that, in people with non-cardiac chest pain, a brief discussion with a health psychologist before the tests about the meaning of potential results led to people being significantly more reassured. The aim of this pilot was to test study procedures and inform sample size for a future multi-centre trial and to gain initial estimates of effectiveness of the discussion intervention.MethodsThis was a two-arm pilot randomised controlled trial in outpatient rapid access chest pain clinic in 120 people undergoing investigation for new onset, non-urgent chest pain. Eligible participants were randomised to receive either: a discussion about the meaning and implication of test results, delivered by a nurse before tests in clinic, plus a pre-test pamphlet covering the same information (Discussion arm) or the pre-test pamphlet alone (Pamphlet arm). Main outcome measures were recruitment rate and feasibility for a future multi-centre trial, with an estimate of reassurance in the groups at month 1 and 6 using a 5-item patient-reported scale.ResultsTwo hundred and seventy people attended rapid access chest pain clinic during recruitment and 120/270 participants (44%) were randomised, 60 to each arm. There was no evidence of a difference between the Discussion and Pamphlet arms in the mean reassurance score at month 1 (34.2 vs 33.7) or at month 6 (35.3 vs 35.9). Patient-reported chest pain and use of heart medications were also similar between the two arms.ConclusionsA larger trial of the discussion intervention in the UK would not be warranted. Patients reported high levels of reassurance which were similar in patients receiving the discussion with a nurse and in those receiving a pamphlet alone.Trial registrationCurrent Controlled Trials ISRCTN60618114 (assigned 27.05.2011).
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Project description:To assess the feasibility of developing a Combined Clinical and Pharmacogenetic Predictive Test, comprised of multiple single nucleotide polymorphisms (SNPs) that is associated with poor bronchodilator response (BDR).We genotyped SNPs that tagged the whole genome of the parents and children in the Childhood Asthma Management Program (CAMP) and implemented an algorithm using a family-based association test that ranked SNPs by statistical power. The top eight SNPs that were associated with BDR comprised the Pharmacogenetic Predictive Test. The Clinical Predictive Test was comprised of baseline forced expiratory volume in 1 s (FEV1). We evaluated these predictive tests and a Combined Clinical and Pharmacogenetic Predictive Test in three distinct populations: the children of the CAMP trial and two additional clinical trial populations of asthma. Our outcome measure was poor BDR, defined as BDR of less than 20th percentile in each population. BDR was calculated as the percent difference between the prebronchodilator and postbronchodilator (two puffs of albuterol at 180 microg/puff) FEV1 value. To assess the predictive ability of the test, the corresponding area under the receiver operating characteristic curves (AUROCs) were calculated for each population.The AUROC values for the Clinical Predictive Test alone were not significantly different from 0.50, the AUROC of a random classifier. Our Combined Clinical and Pharmacogenetic Predictive Test comprised of genetic polymorphisms in addition to FEV1 predicted poor BDR with an AUROC of 0.65 in the CAMP children (n = 422) and 0.60 (n = 475) and 0.63 (n = 235) in the two independent populations. Both the Combined Clinical and Pharmacogenetic Predictive Test and the Pharmacogenetic Predictive Test were significantly more accurate than the Clinical Predictive Test (AUROC between 0.44 and 0.55) in each of the populations.Our finding that genetic polymorphisms with a clinical trait are associated with BDR suggests that there is promise in using multiple genetic polymorphisms simultaneously to predict which asthmatics are likely to respond poorly to bronchodilators.
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Project description:BackgroundVitamin B deficiency is common worldwide and may lead to psychiatric symptoms; however, vitamin B deficiency epidemiology in patients with intense psychiatric episode has rarely been examined. Moreover, vitamin deficiency testing is costly and time-consuming, which has hampered effectively ruling out vitamin deficiency-induced intense psychiatric symptoms. In this study, we aimed to clarify the epidemiology of these deficiencies and efficiently predict them using machine-learning models from patient characteristics and routine blood test results that can be obtained within one hour.MethodsWe reviewed 497 consecutive patients, who are deemed to be at imminent risk of seriously harming themselves or others, over a period of 2 years in a single psychiatric tertiary-care center. Machine-learning models (k-nearest neighbors, logistic regression, support vector machine, and random forest) were trained to predict each deficiency from age, sex, and 29 routine blood test results gathered in the period from September 2015 to December 2016. The models were validated using a dataset collected from January 2017 through August 2017.ResultsWe found that 112 (22.5%), 80 (16.1%), and 72 (14.5%) patients had vitamin B1, vitamin B12, and folate (vitamin B9) deficiency, respectively. Further, the machine-learning models were well generalized to predict deficiency in the future unseen data, especially using random forest; areas under the receiver operating characteristic curves for the validation dataset (i.e., the dataset not used for training the models) were 0.716, 0.599, and 0.796, respectively. The Gini importance of these vitamins provided further evidence of a relationship between these vitamins and the complete blood count, while also indicating a hitherto rarely considered, potential association between these vitamins and alkaline phosphatase (ALP) or thyroid stimulating hormone (TSH).DiscussionThis study demonstrates that machine-learning can efficiently predict some vitamin deficiencies in patients with active psychiatric symptoms, based on the largest cohort to date with intense psychiatric episode. The prediction method may expedite risk stratification and clinical decision-making regarding whether replacement therapy should be prescribed. Further research includes validating its external generalizability in other clinical situations and clarify whether interventions based on this method could improve patient care and cost-effectiveness.
| S-EPMC7044238 | biostudies-literature