PGx Knowledge Research Articles

Normalising the Implementation of Pharmacogenomic (PGx) Testing in Adult Mental Health Settings: A Theory-Based Systematic Review.

Pharmacogenomic (PGx) testing can help personalise psychiatric prescribing and improve on the currently adopted trial-and-error prescribing approach. However, widespread implementation is yet to occur. Understanding factors influencing implementation is pertinent to the psychiatric PGx field. Normalisation Process Theory (NPT) seeks to understand the work involved during intervention implementation and is used by this review (PROSPERO: CRD42023399926) to explore factors influencing PGx implementation in psychiatry. Four databases were systematically searched for relevant records and assessed for eligibility following PRISMA guidance. The QuADS tool was applied during quality assessment of included records. Using an abductive approach to codebook thematic analysis, barrier and facilitator themes were developed using NPT as a theoretical framework. Twenty-nine records were included in the data synthesis. Key barrier themes included a PGx knowledge gap, a lack of consensus in policy and guidance, and uncertainty towards the use of PGx. Facilitator themes included an interest in PGx use as a new and improved approach to prescribing, a desire for a multidisciplinary approach to PGx implementation, and the importance of fostering a climate for PGx implementation. Using NPT, this novel review systematically summarises the literature in the psychiatric PGx implementation field. The findings highlight a need to develop national policies on using PGx, and an education and training workforce plan for mental health professionals. By understanding factors influencing implementation, the findings help to address the psychiatric PGx implementation gap. This helps move clinical practice closer towards a personalised psychotropic prescribing approach and associated improvements in patient outcomes. Future policy and research should focus on the appraisal of PGx implementation in psychiatry and the role of pharmacists in PGx service design, implementation, and delivery.

Importance of Pharmacovigilance in Health and Clinical Research

The field of pharmacogenomics has grown to be quite promising for the medical industry. Therefore, it is critical to assess the attitudes and knowledge of healthcare professionals. The study of interindividual differences in DNA sequence linked to pharmacological response is known as pharmacogenomics, or PGx. There have been several attempts to incorporate this area of research into standard therapeutic procedures. Before initiating clinical PGx in a hospital setting, we provide a brief overview of PGx and its function in enhancing treatment outcomes. Prioritization should involve assessing the PGx evidence that is now available, reviewing the medications that are most relevant, and figuring out which variant alleles and drug-gene combinations are the most actionable. Pharmacogenomics, or PGx, is one of the fields of precision medicine with the greatest potential to swiftly transform standard healthcare.Due to the quick advances in PGx knowledge obtained from extensive basic and clinical research as well as the falling costs of laboratory testing, there is presently increased interest in PGx and anticipation of an imminent clinical translation with major therapeutic impact. However, integrating PGx into clinical workflows is not an easy task; multidisciplinary cooperation and thorough procedures are needed. A greater knowledge of unresolved difficulties has resulted from the pioneering models for clinical PGx implementation developed by a number of national and international institutes.

Pharmacogenomics in Lebanon: current status, challenges and opportunities.

Pharmacogenomics (PGx) research and applications are of utmost relevance in Lebanon considering its population genetic diversity. Moreover, as a country with regional leadership in medicine and higher education, Lebanon holds a strong potential in contributing to PGx research and clinical implementation. In this manuscript, we first review and evaluate the available PGx research conducted in Lebanon, then describe the current status of PGx practice in Lebanon while reflecting on the local and regional challenges, and highlighting areas for action, and opportunities to move forward. We specifically expand on the status of PGx at the American University of Beirut Faculty of Medicine and Medical Center as a case study and guide for the further development of local and regional comprehensive PGx research, teaching, and clinical implementation programs. We also delve into the status of PGx knowledge and education, and prospects for further advancement such as with online courses and certificates.

What are the barriers and facilitators to the implementation of pharmacogenomics in mental health settings? A theory-based systematic review

Abstract Introduction Prescribing of psychotropic medicines is largely led by a trial-and-error approach. Treatment inefficacy, side effects and poor adherence are common challenges.[1] Pharmacogenomics (PGx) studies how genetic variability influences medication response. PGx Testing (PGxT) can identify relevant gene variants and help tailor prescribing of medicines to individuals. Conducting PGxT has been demonstrated to improve treatment outcomes, including medication efficacy and tolerability. Yet, access to and adoption of PGxT in mental health settings is limited to date.[2] Aim To explore factors influencing PGx implementation in mental health settings, using Normalisation Process Theory (NPT) as a theoretical framework. NPT seeks to understand factors influencing the success of intervention implementation. This enabled us to: -Identify barriers hindering the uptake of PGx. -Determine facilitators helping the adoption of PGx prescribing practices. -Map key barriers and facilitators to constructs of the NPT framework Methods The review was registered with PROSPERO (ID: CRD42023399926). Four literature databases were searched using synonyms for three terms (‘pharmacogenomics’, ‘mental health’ and ‘perspectives’), providing a total of 17499 records. Using pre-specified eligibility criteria, records were screened by four independent reviewers in three consecutive stages: title, abstract and full-text screening. Records were included if they contained data about relevant stakeholders (healthcare professional or patient) perspectives towards PGx implementation in mental health settings. Exclusion criteria included studies from non-mental health settings, review articles and clinical PGx studies. Data extraction and quality assessment were completed independently by a minimum of two reviewers. The QuADS tool was applied to enable quality assessment. Using an abductive approach, one reviewer utilised thematic analysis to map barriers and facilitators to the NPT framework, and then develop themes within and across NPT constructs. Results A total of 27 records with qualitative and/or quantitative data relating to PGx implementation in mental health were included. Major barrier themes included a PGx knowledge gap, in part due to a lack of education and training; a lack of top-down policy about PGx implementation; and uncertainty about the use of PGx. Major facilitator themes included interest in PGx as a new and improved approach to prescribing, a perception that PGx integration into electronic health records helps implementation, and a belief that PGx should be multidisciplinary. Conclusion PGx has the potential to improve prescribing in psychiatry, but integration of PGxT and realisation of its potential benefits has not been maximised. For the first time, by extracting data from a range of sources, barriers and facilitators to implementing PGx in mental health settings have been systematically reviewed, using a novel approach by adopting NPT as a theoretical framework. A limitation of the review was that some included studies had already implemented PGxT, so were potentially biased towards reporting positive perceptions about the uptake of PGxT. The review findings are useful to patients, policymakers, service providers and clinician stakeholders in designing pathways for PGx implementation, and health researchers to inform future research in the field of PGx implementation science. Future policy and research should aim to address identified barriers and use facilitators as leverage to enhance implementation.

Asynchronous consult report generation for pharmacogenomic clinical support: Time and motion

As pharmacogenomic (PGx) testing becomes more commonplace in clinical practice, appropriate application of laboratory data to all relevant medications becomes necessary to maximize PGx value. However, many clinicians lack PGx knowledge and confidence, so prescribers may appreciate clinical support when applying PGx data to a patient's entire medication list. Pharmacists routinely provide PGx consult support, and asynchronous written consults may improve logistical simplicity, but specific process steps and time expectations are less settled. Four pharmacists produced written consult reports for 18 patient cases across three rounds of review. Discussion took place before each of the three rounds to drive consensus in steps, process, and resources used. Time per process step was tracked in the third round. Asynchronous written PGx consult reports generally required less than 30 min to generate if no more than 2 medications had PGx-based guidance, but that time more than doubled when more medications require PGx-based guidance. After three rounds of review, pharmacists found consensus regarding an optimal workflow for generating a PGx consult. Findings from this study may support pharmacist training, practice management, and expectation management for asynchronous written PGx consult development.

Psychiatric mental health nurse practitioner student knowledge and perceptions of pharmacogenetic testing.

Psychotropic medications are typically prescribed in a trial-and-error fashion, and some providers are beginning to utilize pharmacogenetic testing (PGx) as a supplemental prescribing tool in treatment decision making. PGx testing shows potential in enhancing provider insights into personalized prescribing for patients by examining genetic information related to drug metabolism. Literature points to providers' lack of knowledge in PGx interpretation as a main barrier, including psychiatric mental health nurse practitioners (PMHNPs). The aim of this study was to measure a difference, if any, in the knowledge and perceptions of PGx after implementation using a pre-post design. This study implemented an educational intervention on graduate nursing students (n = 15). Data were collected by using a pre- and post-interventional questionnaire. Results demonstrated a significant difference in findings related to students' knowledge (p < 0.001), students' skills related to pharmacogenetics, (p < 0.001), as well as students' perceived ability to implement pharmacogenetics into their practice, (p = 0.028). The authors propose that the knowledge gained from the study demonstrates the importance of introducing PGx education into the PMHNP curricula and to prepare future PMHNPs to confidently utilize PGx in their clinical practice.

Assessing pharmacogenomic literacy in China through validation of the Chinese version of the Minnesota Assessment of Pharmacogenomic Literacy.

Pharmacogenomics (PGx) implementation into clinical care is rapidly increasing in China. However, the extent to which the public understands PGx testing and important knowledge domains requiring patient education or counseling remains unclear. To address this, we created and validated the Chinese version of the Minnesota Assessment of Pharmacogenomic Literacy (MAPL-CTM ). The MAPL-C was developed by translating the English MAPL to Chinese following cross-cultural translation guidelines. An online survey validated the MAPL-C and assessed Chinese individuals' PGx literacy. Validation analyses were performed and associations of PGx literacy with participants' characteristics were quantified. Of 959 high-quality responses, the majority of respondents were Han Chinese (96.3%), men (54.5%), aged 18-29 years (70.9%), residing in China (97.3%), and had received college or higher education (95.0%). Out of 15 starting items developed to query specific predefined knowledge domains, two uninformative items were excluded, resulting in a 13-item MAPL-C. Chinese participants' MAPL-C performance was best explained by a three-factor model, encompassing PGx concepts and function, testing limitations, and privacy. Higher MAPL-C performance was associated with younger age, higher education, and previous genetic testing experience. Correct response rates for questions related to testing limitations were lower than those in other domains. The creation and validation of the MAPL-C fills a gap in determining PGx knowledge among Chinese speakers, quantifying PGx literacy within a Chinese cohort, and identifying response patterns and knowledge gaps. The MAPL-C can be useful in clinical practice to guide patient counseling, assess PGx education interventions, and quantify PGx knowledge in relation to outcomes in research studies involving Chinese participants.

Knowledge and attitudes of medical and pharmacy students about pharmacogenomics: a systematic review and meta-analysis.

Pharmacogenomics (PGx) is rapidly growing branch of molecular genetics with high potentials to influence therapeutics. This review evaluates knowledge and attitudes of medical and pharmacy students about PGx. A literature search was conducted in electronic databases and studies were selected by following precise eligibility criteria. After quality assessment, studies were reviewed systematically, and meta-analyses of proportions were performed to estimate response rates of students. Fifteen studies (5509 students; 69% [95% confidence interval (CI): 60%, 77%] females) were included. Among students, 28% [95%CI: 12, 46] had adequate PGx knowledge; 65% [95%CI: 55, 75] were willing to have PGx test for their own risk assessment; 78% [95%CI: 71, 84] had intention to incorporate PGx in future practice; and 32% [95%CI: 21, 43] were satisfied with current PGx component of curriculum. Age, advanced year of educational program, and more time spent in PGx education were positively associated with PGx knowledge and positive attitudes.

Pharmacogenetics and pharmacogenomics in glaucoma therapeutics: the way to personalized therapy.

Pharmacogenetics and pharmacogenomics in glaucoma therapeutics: the way to personalized therapy.

Knowledge and attitudes of incoming pharmacy students toward pharmacogenomics and survey reliability.

Aims: To assess knowledge and attitudes toward pharmacogenomics (PGx) of incoming doctoralpharmacy students, to evaluate the internal structure and reliability of the PGx surveyand to identify variables associated with the different responses. Methods: A PGx survey based on the core pharmacist competencies in PGx was created. Results: Of 83.2% analyzable responses, 91% believed PGx is a useful tool and relevant to future practicebut over 70% stated they lack confidence in clinical PGx knowledge. This 38-item PGx survey included three factors showing high reliability. Prior genetic/PGx testing and unsatisfactory medication experiences were associated with a more positive attitude toward PGx. Conclusion: The majority of students have positive attitudes toward PGx, but lack knowledge in genetic concepts and clinical PGx.

Experience, Knowledge, and Perceptions of Pharmacogenomics among Pharmacists and Nurse Practitioners in Alberta Hospitals.

Despite evidence of clinical utility and the availability of prescription guidelines, pharmacogenomics (PGx) is not broadly used in institutional settings in Canada. To inform future implementation, this study aimed to identify healthcare provider knowledge, experience, and perceptions of PGx in Alberta, Canada. An online 44-item survey was distributed to pharmacists, nurse practitioners, and physicians employed or contracted with Alberta Health Services from January to May 2022. Questions included: demographics, professional history, PGx education and exposure, knowledge, and ability to use PGx, and attitudes towards, feasibility, clinical utility, education, and implementation. Ninety-one pharmacists, 37 nurse practitioners, and 6 physicians completed the survey. Fifty-nine percent had 10 or more years of experience, and 71% practiced in urban settings. Only one-third had training in PGx, and one-quarter had used PGx. Most respondents (63%) had no knowledge of PGx resources, including the Pharmacogenomics Knowledge Base (75%), or the Clinical Pharmacogenetics Implementation Consortium guidelines (85%). While participants agreed that they understood genetic (75%) and PGx (63%) concepts, most disagreed with their ability regarding practical applications of PGx such as translating genotype to phenotype (74%) or counselling patients on results (66%). Participants agreed on the clinical utility of PGx in preventing adverse drug reactions (80%) and enhancing medication efficacy (77%), and identified oncology (62%), cardiovascular/stroke (60%), and psychiatry (56%) as therapeutic areas to consider implementation. At present, healthcare provider knowledge (87%), cost (81%), and limited guidelines/evidence (70%) are seen as the greatest barriers to implementation. Alberta healthcare providers have limited training, experience, or knowledge in PGx. However, most appear to have a positive outlook regarding clinical utility, especially within oncology, cardiology, and psychiatry. More effort is required to socialize the availability and quality of evidence and guidelines for the interpretation of PGx test results, address other knowledge gaps, and improve financial limitations.

An objective evaluation of fundamental pharmacogenomics knowledge among pharmacists and pharmacy students

IntroductionPossessing a correct and comprehensive foundation on the science of pharmacogenomics (PGx) is an important prerequisite for pharmacists to successfully apply pharmacogenomic testing to patient care. While some work has addressed general PGx knowledge among pharmacists, little research has specifically focused on PGx foundational knowledge. This study examines the level of foundational knowledge of PGx and interest in learning about PGx among community pharmacists and first-year pharmacy students at Beirut Arab University (BAU), Beirut, Lebanon. MethodsA cross-sectional survey was self-administered to community pharmacists within a random sample of community pharmacies in Beirut, Lebanon, and to first-year BAU pharmacy students. The knowledge component of the instrument consisted of 25 items, each worth one point, addressing fundamental PGx information. The validity and internal consistency of the designed instrument were tested among the study population. Correlation analysis was carried out between aggregate knowledge and key variables for participating pharmacists. ResultsOf 150 approached pharmacists, 137 (91 %) participated and of 132 pharmacy students, 131 (99 %) participated. The average knowledge score for community pharmacists was 15 (Standard Deviation = 4) out of a possible total of 25 with the total number of correct answers ranging from 8 to 24 out of 25 questions. The average score for pharmacy students was 17 (Standard Deviation = 5) out of a possible total of 25 with the total number of correct answers ranging from 5 to 24. Pharmacists’ age and years of practice were associated with a lower aggregate knowledge score (r = −0.20; p < 0.05 and r = −0.21; p < 0.05), respectively. Pharmacists’ interest in learning about PGx varied whereas 62 % were either interested or very interested in learning about PGx. Students’ interest, however, was higher with 70 % being either interested or very interested. Specific PGx topics of interest to participants were highlighted. ConclusionThis study identified areas where PGx foundational knowledge was acceptable and others where significant opportunities for improvement exist. These results add to the rapidly expanding field of pharmacogenomics education and practice in relation to pharmacy. In particular, these findings have significant implications for planning pharmacogenomics-related educational activities targeting current and future pharmacists.

Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine.

Despite the increasing evidence of utility of genomic medicine in clinical practice, systematically integrating genomic medicine information and knowledge into clinical systems with a high-level of consistency, scalability and computability remains challenging. A comprehensive terminology is required for relevant concepts and the associated knowledge model for representing relationships. In this study, we leveraged PharmGKB, a comprehensive pharmacogenomics (PGx) knowledgebase, to formulate a terminology for drug response phenotypes that can represent relationships between genetic variants and treatments. We evaluated coverage of the terminology through manual review of a randomly selected subset of 200 sentences extracted from genetic reports that contained concepts for 'Genes and Gene Products' and 'Treatments'. Results showed that our proposed drug response phenotype terminology could cover 96% of the drug response phenotypes in genetic reports. Among 18 653 sentences that contained both 'Genes and Gene Products' and 'Treatments', 3011 sentences were able to be mapped to a drug response phenotype in our proposed terminology, among which the most discussed drug response phenotypes were response (994), sensitivity (829) and survival (332). In addition, we were able to re-analyze genetic report context incorporating the proposed terminology and enrich our previously proposed PGx knowledge model to reveal relationships between genetic variants and treatments. In conclusion, we proposed a drug response phenotype terminology that enhanced structured knowledge representation of genomic medicine. Supplementary data are available at Bioinformatics online.

Pharmacists' Knowledge, and Insights in Implementing Pharmacogenomics in Saudi Arabia.

Background: Pharmacogenomics (PGx) and personalized medicine embrace the potential to optimize drug treatment and improve the patient’s quality of life. Pharmacists’ roles include contributing to genetic testing, patient counseling, and pharmacotherapies selection for superior treatment outcomes. The aim of this study is to assess the pharmacists’ knowledge, insight, and self-confidence toward PGx testing, identify their future preferred education patterns, and determine the barriers to pharmacogenomic testing implementation. Method: A cross-sectional study was conducted using a previously validated questionnaire among pharmacists working in the Kingdom of Saudi Arabia (KSA). The questionnaire was designed in seven major categories, consisting of 26 questions. Results: A total of 671 pharmacists participated in this survey. As for knowledge, only 29.8% of pharmacists had good knowledge regarding PGx, while 42.9% had poor knowledge levels. Respectable PGx knowledge was significantly higher among outpatient dispensing pharmacists (33.6%; p = 0.049) and among pharmacists who had completed PGx testing-related training or education (40.3%; p = 0.001). Considering perception, it was positive among 50% of pharmacists and negative among 19.8%. With regard to self-confidence, it was high among 39.2% of male pharmacists (p = 0.042), among 43% of clinical pharmacists (p = 0.006), and among 44.8% of pharmacists who had extra credentials (p = 0.001). The utmost favored continuing-education learning approaches were workshops or seminars. The barriers to the implementation of PGx testing included a lack of testing devices, clinical guidelines, training or education, and personnel. Conclusion: The present study revealed that pharmacists in KSA had inadequate knowledge and understanding of PGx. Nevertheless, the majority established that PGx is a valuable tool for augmenting drug efficacy and safety.

Assessing the impact of pre-test education on patient knowledge, perceptions, and expectations of pharmacogenomic testing to guide antidepressant use.

Pharmacogenomic (PGx) testing is an increasingly utilized technology that offers the potential for precision drug selection to treat depression. Though PGx-guided therapy is associated with increased rates of remission of depression symptoms, for many patients, treatment will not change based on PGx testing results. Lack of consensus guidelines for pre-test counseling may hinder the communication of PGx testing limitations, and patients often have high expectations for test outcomes. To explore this issue, we created and evaluated the impact of a pre-test education video for patients with depression. Individuals in the education group (n= 198) viewed this brief video about PGx testing prior to completing a survey that explored knowledge, perception, and expectations of PGx testing developed using a theoretical framework to measure intention to test. Individuals in the survey-only group (n= 189) completed the same survey but were not provided with any PGx educational materials. Analyses demonstrate efficacy of the video in improving knowledge of PGx. The education group also reported more positive attitudes and greater perceived control over pursuing PGx testing compared to the survey-only group. Further analyses identified significant differences in expectations, attitudes, and intention to pursue PGx testing based on number of previous medication trials. Path analyses identified the best model for predicting PGx testing intention, specifically that social norms and ease of testing have a strong positive association, and knowledge has a strong negative association with patients' intentions to test across the full sample, the education group, and the survey-only group. The findings of this study serve as a foundation for future tailored educational initiatives in the PGx testing space.

The Efficacy of a Didactic and Case-Based Pharmacogenomics Education Program on Improving the Knowledge and Confidence of Alberta Pharmacists.

BackgroundPharmacogenomics (PGx) is the study of how genetic variations for functional proteins, such as metabolizing enzymes and drug receptors, impact drug pharmacokinetics and pharmacodynamics. In theory, pharmacists are well suited to utilize PGx in tailoring medications to patient genetics when providing medication therapy management services. However, PGx education needs to reach pharmacists prior to implementation. The aim of this study is to develop and evaluate a PGx course for pharmacists.MethodsA PGx education program was created and offered synchronously (virtual) and asynchronously (self-study) to pharmacists in Alberta, Canada. Lectures were delivered by experts live (virtual) with a question-and-answer period for synchronous sessions. These sessions were recorded for asynchronous delivery. Six case studies were discussed in large and small groups (“breakout rooms”) in synchronous sessions, and provided for self-study in the asynchronous subgroup. Topics included genetic and PGx concepts; therapeutic applications; ethical, legal, and social considerations; and practical implementation. Pre- and post-course surveys measured self-rated knowledge using a 5-point Likert Scale and tested objective knowledge with a graded quiz.ResultsThirty-six pharmacists completed the course and both surveys. Participants reported backgrounds in community (88.9%) and hospital (38.9%) practice. Prior education in PGx was reported by 44.4% from degree programs and 27.8% from continuing education. Overall responses to statements about confidence in PGx moved from a median of “Disagree” at baseline to “Agree” after receiving PGx education (2-point difference [1,2] on 5-point Likert Scale; p < 0.001), indicating an increase in self-assessed competency in PGx. Likewise, mean participant grades on the knowledge quiz improved (20.8±21.9% pre-course vs 70.2±19.1% post-course, p < 0.001). There was no difference in these results between synchronous and asynchronous groups.ConclusionA didactic and case-based PGx education program was effective at increasing pharmacist knowledge and confidence in PGx in both synchronous and asynchronous environments. Knowledge gained can be utilized in delivery of patient-centered, personalized medication therapy management in the pharmacy setting.

Pharmacogenomics: Relevance and opportunities for clinical pharmacology

Pharmacogenomics: Relevance and opportunities for clinical pharmacology

Population genetic polymorphisms of pharmacogenes in Zimbabwe, a potential guide for the safe and efficacious use of medicines in people of African ancestry.

Pharmacogenomics (PGx) is a clinically significant factor in the safe and efficacious use of medicines. While PGx knowledge is abundant for other populations, there are scarce PGx data on African populations and is little knowledge on drug-gene interactions for medicines used to treat diseases common in Africa. The aim of this study was to use a custom-designed open array to genotype clinically actionable variants in a Zimbabwean population. This study also identified some of the commonly used drugs in Zimbabwe and the associated genes involved in their metabolism. A custom-designed open array that covers 120 genetic variants was used to genotype 522 black Zimbabwean healthy volunteers using TaqMan-based single nucleotide polymorphism genotyping. Data were also accessed from Essential Drugs' List in Zimbabwe (EDLIZ), and the medicines were grouped into the associated biomarker groups based on their metabolism. We also estimated the national drug procurement levels for medicines that could benefit from PGx-guided use based on the data obtained from the national authorities in Zimbabwe. The results demonstrate the applicability of an open-array chip in simultaneously determining multiple genetic variants in an individual, thus significantly reducing cost and time to generate PGx data. There were significantly high frequencies of African-specific variants, such as the CYP2D6*17 and *29 variants and the CYP2B6*18 variant. The data obtained showed that the Zimbabwean population exhibits PGx variations in genes important for the safe and efficacious use of drugs approved by the EDLIZ and are procured at significantly large amounts annually. The study has established a cohort of genotyped healthy volunteers that can be accessed and used in the conduct of clinical pharmacogenetic studies for drugs entering a market of people of predominantly African ancestry. Our study demonstrated the potential benefit of integrating PGx in Zimbabwe for the safe and efficacious use of drugs that are commonly used.

Evaluation of a Longitudinal Pharmacogenomics Education on Pharmacist Knowledge in a Multicampus Healthcare System

Aim: To evaluate the effect of pharmacogenomics (PGx) education for pharmacists. Materials & Methods: Three-part weekly webinar series occurred in 2021. Pharmacists were assessed on their PGx knowledge at baseline and after each webinar. The primary end point was a change in the percent of correct responses between the baseline and week 1 assessment. Secondary end points included change in knowledge at weeks 4-8 and change in self-efficacy. Results: In total, 19of 58 participants were eligible for the primary analysis, which showed an average improvement of 37% (p<0.0001). Knowledge remained consistent between week 1 and weeks 4-8. Average self-efficacy increased (p<0.0001) and was maintained at weeks 4-8. Conclusion: The PGx webinar series resulted in a lasting improvement in PGx knowledge and self-efficacy.

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants.

Introduction: Pharmacogenomic (PGx) testing results provide valuable information on drug selection and appropriate dosing, maximization of efficacy, and minimization of adverse effects. Although the number of large-scale, next-generation-sequencing-based PGx studies has recently increased, little is known about the risks and benefits of returning PGx results to ostensibly healthy individuals in research settings. Methods: Single-nucleotide variants of three actionable PGx genes, namely, MT-RNR1, CYP2C19, and NUDT15, were returned to 161 participants in a population-based Tohoku Medical Megabank project. Informed consent was obtained from the participants after a seminar on the outline of this study. The results were sent by mail alongside sealed information letter intended for clinicians. As an exception, genetic counseling was performed for the MT-RNR1 m.1555A > G variant carriers by a medical geneticist, and consultation with an otolaryngologist was encouraged. Questionnaire surveys (QSs) were conducted five times to evaluate the participants’ understanding of the topic, psychological impact, and attitude toward the study. Results: Whereas the majority of participants were unfamiliar with the term PGx, and none had undergone PGx testing before the study, more than 80% of the participants felt that they could acquire basic PGx knowledge sufficient to understand their genomic results and were satisfied with their potential benefit and use in future prescriptions. On the other hand, some felt that the PGx concepts or terminology was difficult to fully understand and suggested that in-person return of the results was desirable. Conclusions: These results collectively suggest possible benefits of returning preemptive PGx information to ostensibly healthy cohort participants in a research setting.