Pharmacogenomic Services Research Articles

Pharmacogenomics concierge service as an opportunity for pharmacist reimbursement and practice-based learning

ObjectiveTo assess the feasibility of a pilot pharmacogenomics concierge service that incorporates student practice-based learning opportunities and a survey to determine patients’ interest and willingness to pay. MethodsParticipants in the pilot study (n=34) completed a survey to determine their willingness to pay for concierge services. Six participants indicating the highest level of interest were selected to participate in the program free of charge. Students conducted preliminary genetic testing to assess the potential value of a pharmacogenomics service. For the subset of participants (n=6) invited to the concierge service, confirmatory genetic testing was completed by a third-party lab. A layered learning model allowed senior students to mentor and train junior students in the area of pharmacogenomics. ResultsSix invited participants completed the concierge program and third party pharmacogenomic testing, and the majority (83%) received pharmacogenomic consultation with the pharmacist. Completed surveys from participants in the pilot program (n=34) indicated a willingness to pay $25-50 a month to have continued access to a pharmacist. Surveyed individuals rated their likelihood of utilizing the concierge service at a mean rating of 8.6 (SD=1.88) on a scale of 1 to 10 although this rating dropped significantly if insurance did not cover the cost. The pilot program offered opportunities for practice-based learning through a layered learning model. ConclusionThis pilot concierge program presented several successes and challenges which may help others avoid common pitfalls and spur discussion on optimal ways to develop new pharmacy services and experiential opportunities for students.

Implementation of pharmacogenomics: Experience at Ochsner Health.

Pharmacogenomics is the study of how individual responses to medication are influenced by genetics. As medication experts, pharmacists are uniquely suited to practicing this application of precision medicine. Fundamental operational aspects of developing a pharmacy clinical pharmacogenomics practice are described, and the specific experience of a multisite health system in developing a pharmacogenomics service is discussed. Considerations for the development of a clinical pharmacy-driven pharmacogenomics service include understanding testing selection, targeting the appropriate patient population, exploration of reimbursement, design of the practice, and education of the pharmacogenomics workforce. Testing can be preemptive or reactive, can occur in house or as a send-out service, and can be panel based or specific to a single gene. Pharmacogenomics is applicable to many medicine specialties, making deployment of services to strategic groups essential. Reimbursement for pharmacogenomics is variable and may pose a barrier to implementation. The demand for pharmacogenomics education for pharmacy students and as a formal postgraduate career path is growing. Pharmacogenomics service planning and implementation details for a multisite health system are described. The practice of pharmacogenomics presents a remarkable opportunity for clinical pharmacists and health systems to improve patient care outcomes and experiences.

Implementation of a pharmacist-guided pharmacogenomics dosing service at a rural NCI-designated comprehensive cancer center.

The goal of pharmacogenetic testing is to identify genetic variants with significant implications on drug safety and efficacy. Several professional organizations and institutions have demonstrated the value of pharmacist involvement in the implementation of pharmacogenomic services. Therefore, we aimed to establish a pharmacist-guided model for interpretation of pharmacogenetic results for all oncology patients seen at the Dartmouth Cancer Center (DCC) in Lebanon, NH. A pilot of a pharmacist-guided pharmacogenomics dosing service was implemented at the DCC. Pharmacy services included review of results from a next generation sequencing panel for DPYD, TPMT, NUDT15, and UGT1A1 variants. The pharmacist wrote a note in the electronic health record (EHR) detailing actionable drug-gene interactions and drug-dosing guidance, which was then routed to the treating oncologist. Outcomes collected included highlighting actionable mutations and defining pharmacist interventions. In addition, time spent formulating and documenting patient-specific drug-dosing recommendations was collected. From February 2024 through May 2024, a total of 71 patients with pharmacogenetic results, provided by the clinical molecular laboratory at Dartmouth Health, were reviewed by the pharmacist. The majority of patients tested were diagnosed with a malignancy of gastrointestinal origin. Twenty-one patients were found to have actionable variants in at least one of the four genes evaluated, and five of the 21 identified patients had active treatment plans for which dose changes were then implemented. Implementation of a pharmacist-guided pharmacogenomics based dosing service aided in optimizing drug therapy and has positioned Dartmouth Health for further expansion of pharmacogenomics and personalized patient care.

Integration of a clinical pharmacist practitioner-led pharmacogenomics service in a Veterans Affairs hematology/oncology clinic.

This article describes the implementation and evaluation of pharmacogenomic testing within the hematology/oncology ambulatory care clinic at the William S. Middleton Memorial Veterans Hospital in Madison, WI. The Pharmacogenomic Testing for Veterans (PHASER) program provides preemptive pharmacogenomic testing for veterans nationally. Program implementation at the Madison Veterans Affairs site began in the hematology/oncology clinic with the goal of integrating the offer for pharmacogenomic testing, testing completion, and review of the results by the hematology/oncology clinical pharmacist practitioner (CPP) into current workflows to create a sustainable process for PHASER. The hematology/oncology CPP designed workflows outlining how testing would be offered to patients, how results would be reported and to whom, and how documentation would occur in the electronic medical record. Veterans are offered preemptive PHASER testing, before needing therapy requiring pharmacogenomic results. Exceptions to pharmacogenomic testing were patients with a history of liver or allogeneic hematopoietic stem cell transplantation. This article provides a summary of the role of the hematology/oncology CPP in the implementation of a pharmacogenomics service and the impact on medication management in a hematology/oncology clinic.

Evolution of pharmacogenomic services and implementation of a multi-state pharmacogenomics clinic across a large rural healthcare system.

Introduction: Pharmacogenomics (PGx) aims to maximize drug benefits while minimizing risk of toxicity. Although PGx has proven beneficial in many settings, clinical uptake lags. Lack of clinician confidence and limited availability of PGx testing can deter patients from completing PGx testing. A few novel PGx clinic models have been described as a way to incorporate PGx testing into the standard of care. Background: A PGx clinic was implemented to fill an identified gap in provider availability, confidence, and utilization of PGx across our health system. Through a joint pharmacist and Advanced Practice Provider (APP) collaborative clinic, patients received counseling and PGx medication recommendations both before and after PGx testing. The clinic serves patients both in-person and virtually across four states in the upper Midwest. Results: The majority of patients seen in the PGx clinic during the early months were clinician referred (77%, n = 102) with the remainder being self-referred. Patients were, on average, taking two medications with Clinical Pharmacogenetics Implementation Consortium guidelines. Visits were split almost equally between in-person and virtual visits. Conclusion: Herein, we describe the successful implementation of an interdisciplinary PGx clinic to further enhance our PGx program. Throughout the implementation of the PGx clinic we have learned valuable lessons that may be of interest to other implementors. Clinicians were actively engaged in clinic referrals and early adoption of telemedicine was key to the clinic's early successes.

Practice of Pharmacogenomic Services by Physicians in Saudi Arabia

Purpose: In this study, we aimed to illustrate the practice of pharmacogenomic services by the physicians in the Kingdom of Saudi Arabia.Methods: This is a cross-sectional survey conducted to evaluate the practice of pharmacogenomic services by physicians in Saudi Arabia. We used a self-reported electronic survey and distributed it to physicians from internship to consultant, physician specialties in Saudi Arabia. The survey collected demographic information of the physicians and implemented pharmacogenomics in medical care, frequently of the pharmacogenomics items reported in medical care, medications executed the pharmacogenomics. The 5-point Likert response scale system with closed-ended questions to obtain responses. The data were analyzed using the Survey Monkey system. The Statistical Package of Social Sciences (SPSS) and Jeffery’s Amazing Statistics Program (JASP), and Microsoft excel sheet version 16 were used to analyze the data.Results: A total of 247 physicians responded to the survey. Of them, 156 (64.73%) were female and 84 (35.27%) were male, with statistically significant differences between them (p<0.01). Most of the responders were in the age group of 24–35 years (162 (65.85%)), with statistically significant differences between all age’s groups (p<0.01). Most of the physicians were residents (61 (24.70%)), followed by interns (56 (22.67%)) and specialists (55 (22.27%)). The average score of items “Physician’s practice of pharmacogenomic services” was 2.99 with high score obtained for the elements pharmacogenomic services in the pharmacy (3.16) and pharmacogenomics services competency (3.08). Most of the pharmacogenomics tests requested or observed with the following medications: antiplatelet medications (125 (50.61%)), followed by antidepressants (113 (46.31%)), and antipsychotics 101 (40.06%). The scores of single-test reliability analysis for McDonald’s ω was 0.843, Cronbach’s was 0.809, Gutmann’s λ2 was 0.845, and Gutmann’s λ6 was 0.848.Conclusion: The practice of pharmacogenomic services by physicians was insufficient in the Kingdom of Saudi Arabia. Therefore, we highly recommend the implementation of the pharmacogenomics practice in medical care. Pharmacogenomics services can help to prevent drug-related side effects and improve the safety and efficacy of medication in Saudi Arabia.

Public perceptions of pharmacogenomic services in Ireland - Are people with chronic disease more likely to want service availability than those without? A questionnaire study

BackgroundAs pharmacogenomic services begin to emerge in primary care, the insight of the public is crucial for its integration into clinical practice. ObjectivesTo establish perceptions of pharmacogenomics (awareness, understanding, openness to availability, perceived benefits and concerns, willingness to pay, and service setting) and investigate if they differ between those with and without chronic disease(s). MethodsAn anonymous, online questionnaire generated using Qualtrics® and circulated via social media and posters placed in eight participating community pharmacies was conducted with Irish adults. The questions were designed to consider existing literature on patient perceptions of pharmacogenomics. Descriptive statistics were used to summarize questionnaire responses. Chi-square test was used to compare categorical variables, while independent sample t-test and one-way ANOVA were used to compare the mean values of two (with and without chronic disease) and three groups (multimorbidity (two or more chronic conditions) and polypharmacy (prescribed four or more regular medicines) (MMPP), a single chronic disease, and those without existing medical conditions) respectively Logistic regression was used to evaluate age and gender adjusted associations of chronic disease(s) with responses. A p-value <0.05 was considered statistically significant. ResultsA total of 421 responses were received, 30% (n = 120) of whom reported having a chronic disease. Overall, respondents reported low awareness (44%, n = 166) and poor knowledge (55%, n = 212) of pharmacogenomics. After explaining pharmacogenomics to respondents, patients with chronic disease(s) were 2.17 times more likely (p < 0.001) to want pharmacogenomic services availability than those without existing conditions, adjusted for age and gender (driven by preferences of those with MMPP than those with single chronic disease). Respondents demonstrated a high level of interest and noted both the potential benefits and downsides of pharmacogenomic testing. Willingness-to-pay was not associated with having a chronic disease and respondents were more positive about primary care (community pharmacy or general practice) rather than hospital-based pharmacogenomics implementation. ConclusionThe Irish public in general and those with chronic disease in particular are strongly supportive of pharmacogenomic testing, highlighting an unmet need for its incorporation in medicines optimization. These data underline the need for more research on the implementation of community-based pharmacogenomics services for MMPP patients and ubiquitous pharmacogenomics education programs.

Patients' perspectives of a pharmacist-provided clinical pharmacogenomics service.

Aim: To assess the perspectives and experiences of patients who participated in a pharmacist-provided clinical pharmacogenomics (PGx) service. Methods: We conducted individual semistructured interviews with 16 patients who received a pharmacist-provided PGx service. Qualitative data were analyzed to identify pertinent themes. Results: The major themes identified were: heterogeneity of patient PGx experiences and preferences, pharmacists as appropriate providers of PGx services, considerations regarding the use of PGx results in routine healthcare and perceived applications of PGx testing. Theme-derived considerations included the need toestablish appropriate pre-genotyping expectations, individualize patient education, facilitate collaboration with patients'providersand sustainably update patients'PGx information over time. Conclusion: Patient-specific perspectives such as these are important to consider when providing clinical PGx services, with intention of optimizing patient experiences.

Implementation of a pharmacist-provided pharmacogenomics service in an executive health program.

We describe the implementation of a pharmacist-provided pharmacogenomics (PGx) service in an executive health program (EHP) at an academic medical center. As interest in genomic testing grows, pharmacists have the opportunity to advance the use of PGx in EHPs, in collaboration with other healthcare professionals. In November 2018, a pharmacist-provided PGx service was established in the EHP at the University of Colorado Hospital. The team members included 3 physicians, a pharmacist trained in PGx, a registered dietitian/exercise physiologist, a nurse, and 2 medical assistants. We conducted 4 preimplementation steps: (1) assessment of the patient population, (2) selection of a PGx test, (3) establishment of a visit structure, and (4) selection of a billing model. The PGx consultations involved two 1-hour visits. The first visit encompassed pretest PGx education, review of the patient's current medications and previous medication intolerances, and DNA sample collection for genotyping. After this visit, the pharmacist developed a therapeutic plan based on the PGx test results, discussed the results and plan with the physician, and created a personalized PGx report. At the second visit, the pharmacist reviewed the PGx test results, personalized the PGx report, and discussed the PGx-guided therapeutic plan with the patient. Overall, the strategy worked well; minor challenges included evaluation of gene-drug pairs with limited PGx evidence, communication of information to non-EHP providers, scheduling issues, and reimbursement. The addition of a PGx service within an EHP was feasible and provided pharmacists the opportunity to lead PGx efforts and collaborate with physicians to expand the precision medicine footprint at an academic medical center.

Pharmacogenomics at the Point of Care: A Community Pharmacy Project in British Columbia

In this study 180 patients were consented and enrolled for pharmacogenomic testing based on current antidepressant/antipsychotic usage. Samples from patients were genotyped by PCR, MassArray, and targeted next generation sequencing. We also conducted a quantitative, frequency-based analysis of participants’ perceptions using simple surveys. Pharmacogenomic information, including medication changes and altered dosing recommendations were returned to the pharmacists and used to direct patient therapy. Overwhelmingly, patients perceived pharmacists/pharmacies as an appropriate healthcare provider to deliver pharmacogenomic services. In total, 81 medication changes in 33 unique patients, representing 22% of all genotyped participants were recorded. We performed a simple drug cost analysis and found that medication adjustments and dosing changes across the entire cohort added $24.15CAD per patient per year for those that required an adjustment. Comparing different platforms, we uncovered a small number, 1.7%, of genotype discrepancies. We conclude that: (1). Pharmacists are competent providers of pharmacogenomic services. (2). The potential reduction in adverse drug responses and optimization of drug selection and dosing comes at a minimal cost to the health care system. (3). Changes in drug therapy, based on PGx tests, result in inconsequential changes in annual drug therapy cost with small cost increases just as likely as costs savings. (4). Pharmacogenomic services offered by pharmacists are ready for wide commercial implementation.

Clinical Application and Educational Training for Pharmacogenomics.

Pharmacogenomics—defined as the study of how genes affect a person’s response to drugs—is growing in importance for clinical care. Many medications have evidence and drug labeling related to pharmacogenomics and patient care. New evidence supports the use of pharmacogenomics in clinical settings, and genetic testing may optimize medication selection and dosing. Despite these advantages, the integration of pharmacogenomics into clinical decisions remains variable and challenging in certain practice settings. To ensure consistent application across settings, sufficient education amongst current and future healthcare providers is necessary to further integrate pharmacogenomics into routine clinical practice. This review highlights current evidence supporting clinical application of medications with pharmacogenomic labeling. The secondary objective is to review current strategies for educating health professionals and student trainees. One national organization predicts that most regions in the United States will soon contain at least one healthcare system capable of applying pharmacogenomic information. Applying genotype-guided dosing to several FDA-approved medications may help produce beneficial changes in patient outcomes. Identifying best practices for educating health care professionals and trainees remains vitally important for continuing growth of pharmacogenomic services. As pharmacogenomics continues to expand into more areas of healthcare, current and future practitioners must pursue and maintain competence in pharmacogenomics to ensure better outcomes for patients.

Cost avoidance related to a pharmacist-led pharmacogenomics service for the Program of All-inclusive Care for the Elderly.

Aim: Estimate cost avoidance of pharmacist recommendations for participants enrolled in the Program of All-inclusive Care for the Elderly. Materials & methods: Convenience sample of 200 pharmacogenomics consultations from the PHARM-GENOME-PACE study. Genetic variants, drug-gene interactions, drug-drug-gene interactions and phenoconversions were interrogated. Cost avoidance was estimated and adjusted for inflation. Results: In total, 165 participants had at least one actionable drug-gene pair totaling 429 drug-gene pairs, of which 158 (36.8%) were clinically actionable. Most (70.5%) pharmacists' recommendations were accepted. Estimated cost avoidance was $233,945 when all recommendations were included but conservatively $162,031 based on acceptance rates. Overall mean cost avoidance per actionable drug-gene pair was $1063 or $1983 per participant. Conclusion: Pharmacist-led pharmacogenomics services added to the traditional medication review can avoid substantial costs for payers. Clinical trial registration number: NCT03257605.

Genetic variants and interactions from a pharmacist-led pharmacogenomics service for PACE.

Aim: Evaluate results of pharmacogenomics testing for participants enrolled in the Program of All-inclusive Care for the Elderly (PACE). Materials & methods: A convenience sample of 100 participants from the PHARM-GENOME-PACE study. Genetic variants were determined by pharmacogenomics testing. Drug-gene interactions (DGIs), drug-drug-gene interactions (DDGIs) and phenoconversions were interrogated from a clinical decision support system. Results: In total, 146 genetic variants, 169 DGIs and 125 DDGIs were detected. DGIs and DDGIs occurred most commonly with the CYP2D6 gene (36.1 and 39.2%, respectively). There were 280 instances of phenoconversions; majority (62.9%) affecting the CYP3A4 isoenzyme. Conclusion: Prevalence of exposures to DGIs and DDGIs among PACE participants is high. Pharmacists using aclinical decision support system can support PACE practitioners with assessing multidrug simultaneous interactions. Clinical trial registration: NCT03257605.

Community pharmacists’ educational needs for implementing clinical pharmacogenomic services

ObjectivesPharmacist leadership and knowledge of pharmacogenomics is critical to the acceleration and enhancement of clinical pharmacogenomic services. This study aims for a qualitative description of community pharmacists’ pharmacogenomic educational needs when implementing clinical pharmacogenomic services at community pharmacies. MethodsPharmacists practicing at Rite Aid Pharmacy locations in the Greater Pittsburgh Area were recruited to participate in this qualitative analysis. Pharmacists from pharmacy locations offering pharmacogenomic testing and robust patient care services were eligible to participate in a semistructured, audio-recorded interview. The semistructured interview covered 4 domains crafted by the investigative team: (1) previous knowledge of pharmacogenomics; (2) implementation resources; (3) workflow adaptation; and (4) learning preferences. Interviews were transcribed verbatim and independently coded by 2 researchers. A thematic analysis by the investigative team followed. Supporting quotes were selected to illustrate each theme. ResultsEleven pharmacists from 9 unique pharmacy locations participated in this study. The average length of practice as a community pharmacist was 12 years (range, 1.5-31 years). Pharmacist’s pharmacogenomic educational needs were categorized into 5 key themes: (1) enriched pharmacogenomic education and training; (2) active learning to build confidence in using pharmacogenomic data in practice; (3) robust and reputable clinical resources to effectively implement pharmacogenomic services; (4) team-based approach throughout implementation; (5) readily accessible network of pharmacogenomic experts. ConclusionThis study describes the educational needs and preferences of community pharmacists for the successful provision of clinical pharmacogenomic services in community pharmacies. Pharmacists recognized their needs for enriched knowledge and instruction, practice applying pharmacogenomic principles with team-based approaches, robust clinical resources, and access to pharmacogenomic experts. This deeper understanding of pharmacist needs for pharmacogenomic education could help to accelerate and enhance the clinical implementation of pharmacogenomic services led by community pharmacists.

Pharmacogenetics tools readily available for those who opt to use them.

Organizations that haven’t yet incorporated pharmacogenetics into patient care need to do so, says Shannon Manzi, director of the clinical pharmacogenomics service at Boston Children’s Hospital. “We are moving towards a precision medicine arena that is going to require pharmacists and

Implementation of a pharmacist-led pharmacogenomics service for the Program of All-Inclusive Care for the Elderly (PHARM-GENOME-PACE)

ObjectivesTo determine the feasibility of implementing a pharmacist-led pharmacogenomics (PGx) service for the Program of All-Inclusive Care for the Elderly (PACE). SettingA national centralized pharmacy providing PGx services to community-based PACE centers. Practice descriptionIndividuals 55 years of age and older enrolled in PACE who underwent PGx testing as part of their medical care (n = 296). Practice innovationPharmacist-led PGx testing, interpreting, and consulting. EvaluationImplementation processes and roles were ascertained by reviewing policies and procedures for the PGx service and documented observations made by pharmacists providing the service. Genetic variants and drug-gene interactions (DGIs) were determined by interpretations of PGx test results. Types of recommendations provided by pharmacists were ascertained from PGx consultations. Prescribers' acceptance of recommendations were ascertained by documented responses or drug changes made after PGx consultations. ResultsChallenges to implementation included lack of systems interoperability, limited access to medical electronic health records, determining prescribers' responses, and knowledge and competency gaps in PGx. Pharmacist roles most essential to overcoming challenges were interpreting and applying PGx data, determining how to disseminate those data to prescribers, advocating for appropriate PGx testing, and educating about the application of test results to clinical practice. Participants frequently used drugs posing DGI risks, with the majority (73.6%) reporting more than 1 interaction. The overwhelming majority (89.0%) of pharmacists' recommendations to mitigate risks were accepted by referring prescribers. ConclusionImplementing a pharmacist-led PGx service for PACE is feasible. Implementation of this service highlights the leadership role of pharmacists in moving PGx from research to practice.

Blue genes: Pharmacogenomic services show value of pharmacists as providers

Blue genes: Pharmacogenomic services show value of pharmacists as providers

The Pharmacogenomic Era in Asia: Potential Roles and Challenges for Asian Pharmacists

Personalized medicine through Pharmacogenomics: choosing the right drug, and the right dose, for the right patients based on patient’s genetic makeup-is gradually being realised in Western countries. Yet, the practice of pharmacogenomics in Asian countries lags behind that of the West, but the medical needs for pharmacogenomics are expected to surge as better patient care is demanded in Asia. As next-generation sequencing technology advances quickly, previous technical challenges for performing pharmacogenomic studies or practices in Asia have been mostly resolved. What is lacking in Asia is an effective model of community-wide pharmacogenomics. On the delivery front, pharmacists, the drug and dosing professionals, can potentially be the main healthcare providers for pharmacogenomic services in Asia. The first large “Genomics for Precision Drug Therapy in the Community Pharmacy” in Canada, which is close to its completion, has successfully identified community pharmacists as key contact professionals for smooth facilitation and implementation of pharmacogenomics for personalized medication. It is anticipated that Asian pharmacists, with appropriate training, can have the capacity to provide expert pharmacogenomic supports for both physicians and patients in Asia.

Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services.

The number of clinically relevant gene-based guidelines and recommendations pertaining to drug prescribing continues to grow. Incorporating gene-drug interaction information into the drug-prescribing process can help optimize pharmacotherapy outcomes and improve patient safety. However, pharmacogenomic implementation barriers exist such as integration of pharmacogenomic results into electronic health records (EHRs), development and deployment of pharmacogenomic decision support tools to EHRs, and feasible models for establishing ambulatory pharmacogenomic clinics. We describe the development of pharmacist-managed pharmacogenomic services within a large health system. The Clinical Pharmacogenetics Implementation Consortium guidelines for HLA-B*57:01-abacavir, HLA-B*15:02-carbamazepine, and TPMT-thiopurines (i.e., azathioprine, mercaptopurine, and thioguanine) were systematically integrated into patient care. Sixty-three custom rules and alerts (20 for TPMT-thiopurines, 8 for HLA-B*57:01-abacavir, and 35 for HLA-B*15:02-anticonvulsants) were developed and deployed to the EHR for the purpose of providing point-of-care pharmacogenomic decision support. In addition, a pharmacist and physician-geneticist collaboration established a pharmacogenomics ambulatory clinic. This clinic provides genetic testing when warranted, result interpretation along with pharmacotherapy recommendations, and patient education. Our processes for developing these pharmacogenomic services and solutions for addressing implementation barriers are presented.

Implementing Pharmacogenomics at Your Institution: Establishment and Overcoming Implementation Challenges.

With advancements in pharmacogenomics research and genotyping technology, implementation of pharmacogenomics into clinical practice is now feasible. The aim of this publication is to serve as a tutorial for institutions interested in developing pharmacogenomics services. Topics covered include resources needed, clinical decision support establishment, choosing a genotyping platform, and challenges faced with pharmacogenomics service implementation. This tutorial provides practical advice, drawing upon experience of two established clinical pharmacogenomics services.