Pharmacogenomic Testing Research Articles

Pharmacogenomics and its Role in Cardiovascular Diseases: A Narrative Literature Review.

Pharmacogenomics has transformed the way we approach the treatment of the most common diseases worldwide, especially cardiovascular. In this article, we highlight the main categories of drugs involved in major cardiovascular diseases (CVD), related genetic variability and their effects on metabolism in each case of contrastive operability. This not only explains disparities in treatment outcomes but also unfolds customised management based on genomic studies to improve efficiency and limit side effects. Genetic variations have been identified that impact the efficacy, safety, and adverse effects of drugs commonly used in the treatment of CVDs, such as Angiotensin converting Enzyme Inhibitor (ACEI), Angiotensin Receptor Blocker (ARBs), calcium channel blockers, antiplatelet agents, diuretics, statins, beta-blockers, and anticoagulants. It discusses the impact of genetic polymorphisms on drug metabolism, efficacy, and adverse reactions, highlighting the importance of genetic testing in optimizing treatment outcomes. Pharmacogenomics holds immense potential for revolutionizing the management of CVDs by enabling personalized medicine approaches tailored to individual genetic profiles. However, challenges such as clinical implementation, cost-effectiveness, and ethical considerations need to be addressed to completely incorporate pharmacogenomic testing into standard clinical practice. Continued research and clinical diligence are required for the utilization of pharmacogenomics to improve therapeutic outcomes and reduce the burden of CVD globally.

P-1750. Assessment of Antimicrobial Stewardship Guided CYP2C19 Pharmacogenomic Voriconazole Dosing: Practicalities and Impact on Clinical Management

Abstract Background Pharmacogenomic testing of CYP2C19 is a potential tool to optimize dosing of voriconazole (VCZ), a drug with a narrow therapeutic index and interpatient variability. An onsite CYP2C19 assay was developed to improve the accessibility and turnaround time of results. In this pilot study, we evaluated the utility and clinical impact of antimicrobial stewardship (AMS)-guided CYP2C19 testing. Methods Starting 5/1/2022, the AMS team provided recommendations regarding CYP2C19 testing and dosing for selected patients receiving VCZ at our comprehensive cancer center. CYP2C19 testing was performed using RT-PCR with allele-specific probes for *2, *3, *6, *8, *9, *10, and *17. We conducted a retrospective chart review of all adult cancer patients with a VCZ order between 5/1/2022 and 10/31/2023 and captured clinical characteristics, result turnaround time, VCZ dose adjustment and therapeutic levels. Results Among 239 patients prescribed VCZ that were eligible for CYP2C19 testing, 23 (10%) were tested for CYP2C19 (Table 1), 10 at time of VCZ initiation, 2 when restarting a VCZ course, and 11 with ongoing VCZ following sub/supratherapeutic levels (Table 2, Figure 1). In 6/23 (26%) patients, VCZ management was impacted by guiding dose change or alternative antifungal based on CYP2C19 genotype. In 7/23 (30%) a dose change was made while the genotype was pending, with the results confirming management. There was no impact on management in 8/23 (35%), and 2/23 (9%) patients died before a dose change could be made. Of 11 patients with initial sub/supratherapeutic VCZ levels before testing, 5/11 were CYP2C19 ultra/rapid metabolizers; 10/11 either changed or confirmed management based on CYP2C19 genotype. Of these, 7/10 had a therapeutic level after first dose adjustment, while 3/10 changed antifungal. The median time from CYP2C19 order to results was 4.3 days (interquartile range [IQR] 3.0-5.5), (Figure 2).Figure 1.Voriconazole levels among 20/23 patients with CYP2C19 testing and VCZ levels.Gray horizontal band represents the therapeutic range (1.0-5.0 mg/L). Levels <0.2 mg/L were assigned a value of 0.1. Conclusion AMS-guided onsite CYP2C19 testing impacted clinical management of VCZ dosing or selection of alternative antifungals. While our data suggest its utility in patients with sub/supratherapeutic levels, further research is needed to evaluate its role in guiding initial VCZ dosing in high-risk patients.Figure 2.CYP2C19 guided voriconazole dose adjustment timeline with the median time and interquartile range [IQR] in hours (h) or days between steps. (a) In new/restart VCZ orders only, n=12; (b) In those with dose changes based on, or pending CYP2C19 results, n=9. Disclosures Julian Lindsay, BPharm, MClinPharm, PhD, Amgen: Advisor/Consultant|BMS: Advisor/Consultant|Mayne: Advisor/Consultant|Merck: Advisor/Consultant Frank Tverdek, PharmD, Merck: Advisor/Consultant Michael J. Boeckh, MD PhD, Allovir: Advisor/Consultant|Allovir: Grant/Research Support|AstraZeneca: Advisor/Consultant|AstraZeneca: Grant/Research Support|Merck: Advisor/Consultant|Merck: Grant/Research Support|Moderna: Advisor/Consultant|Moderna: Grant/Research Support|Symbio: Advisor/Consultant Steven A. Pergam, MD, MPH, Cidara: Advisor/Consultant|F2G: Advisor/Consultant|Global Life Technologies: Grant/Research Support|Symbio: Advisor/Consultant Catherine Liu, MD, Pfizer: Grant/Research Support

P0883 Proactive pharmacogenomics in azathioprine-treated pediatric inflammatory bowel disease at a Chinese tertiary hospital

Abstract Background Despite the emergence of numerous innovative targeted therapies for the management of pediatric inflammatory bowel disease (IBD), azathioprine continues to be a pivotal first-line therapeutic agent. Nonetheless, the considerable frequency of myelotoxicity associated with its use warrants careful consideration and further investigation. Methods A retrospective analysis was performed on the clinical data of pediatric IBD who had undergone azathioprine pharmacogenomic testing at the Department of Gastroenterology, Children's Hospital of Fudan University, between July 2019 and May 2024. The study aimed to summarize the prevalence of metabolic gene abnormalities associated with azathioprine and to assess the incidence of myelosuppression among these patients during the subsequent follow-up period. Results Among the 227 patients underwent pharmacogenetic testing, abnormal genetypes occurred in 66 patients, among which 7 patients exhibited aberrant TPMT and 59 had aberrant NUDT15. Of the 58 patients who were treated with azathioprine, 23 cases experienced myelosuppression. All three children with heterozygous mutations in NUDT15 developed leukopenia following azathioprine treatment. Among patients with normal pharmacogenetic results, 20 cases (36.4%) developed myelosuppression, while 35 cases (63.6%) did not. The dose of azathioprine was below the recommended level in guidelines. The mean dose of azathioprine (mg/kg/day) in the myelosuppression group was 1.22±0.32, compared to 1.42±0.42 in the non-myelosuppression group, which represented a statistically significant difference (p<0.05). However, age, gender, and the use of concomitant biologics, mesalazine, or glucocorticoids did not show significant differences between the groups (p>0.05). Conclusion NUDT15 C415T was prevalent in China and optimal dose of azathioprine should be reconsidered in Chinese pediatric IBD.

Analysis of depression in Brazil and the feasibility of incorporating pharmacogenomics as an auxiliary tool in antidepressant treatment

Abstract Depression has substantially increased in the last 10 years in Brazil, and mental health became a concerning issue for the public health globally, especially considering the COVID-19 pandemic. The therapeutic conduct in depression mainly relies on medication and psychotherapy. However, more than one attempt in the treatment can be considered a common procedure before finding out the right medication. This conduct leads many patients to give up following pharmacological treatment. In this scenario, pharmacogenomics emerges as a possible supporting tool of the medical treatment. This paper aims to analyze the scenario of depression in Brazil and the viability of pharmacogenomic tests implementation as a part of the medical procedure. Official data bank from the Brazilian government was used to analyze the prevalence of depressive disorder, as well as Pharmacogenomic data bases and relevant articles around this topic. Additionally, pharmacogenomic tests typically take into consideration the genes CYP2D6 and CYP2C19, which are relevant for antidepressant treatment. Data shows that these tests could help patients achieve remission of symptoms, and they could also be economically advantageous. Thus, pharmacogenomic tests present as an interesting approach for the therapeutic conduct of depression and can significantly improve the health quality of this affected population.

Interprofessional approach in pharmacogenomics: A systematic review

Background: The expansion of pharmacogenomics for individualised therapy is slow. A multidisciplinary approach is critical for pharmacogenomics to achieve its full potential for optimising patient care. This systematic review aimed to determine the barriers, procedures, and benefits of using an interprofessional approach in the education and clinical practice of pharmacogenomics. Methods This systematic review was conducted using PubMed, Scopus, and ScienceDirect databases. A PRISMA flowchart was used to conduct the systematic review. Results: Seventeen of 236 manuscripts were included. The data were categorised into four major themes: interprofessional approaches, procedures, barriers, and benefits. Eight studies were on interprofessional education (IPE), and the rest were on interprofessional collaboration (IPC). The essential procedure addressed education, resources, and multidisciplinary clinical practice in patient selection/counselling, pharmacogenomic testing, and decision-making and implementation. Eleven barriers and four benefits were identified for IPE and IPC. Conclusions: Barriers were identified in IPE (knowledge/skills, confidence, time, finance, and geographical problem), IPC (resources, communication, and ambiguity about pharmacogenomic services), and IPE/IPC (stereotypes of other professions). Essential collaborative procedures include educational strategies with interprofessional approaches, support systems, and implementation of clinical practices. The benefits of IPE and IPC include improved communication/interaction, knowledge/skills, and therapeutic outcomes. IPE also increased students’ confidence.

The role of pharmacogenomic testing in optimizing depression treatment in medically underserved communities: Implications for nurse practitioner practice.

Depression is a leading cause of disability worldwide, with treatment-resistant depression (TRD) affecting approximately 30% of patients who do not respond to standard antidepressants. In underserved and uninsured communities, where Nurse Practitioners (NPs) often provide essential mental health care, the challenges of managing TRD are compounded by limited access to specialized services. Pharmacogenomic testing offers a promising approach to overcoming these barriers by providing personalized medication recommendations based on a patient's genetic profile. This brief report examines the medical records of 46 patients from underserved communities who underwent genetic testing for TRD. Of the patients reviewed, 31 achieved remission within 2 months of receiving genetically guided treatment, resulting in a remission rate of 67.39%. Patients with specific genetic markers, such as poor metabolizers for CYP2D6 or CYP2C19, experienced the most significant benefits. These findings suggest that pharmacogenomic testing can significantly improve treatment outcomes for TRD in underserved populations, enabling NPs to provide more personalized, effective care. Further research is necessary to explore the long-term benefits and cost-effectiveness of integrating pharmacogenomic testing into NP-led practices, particularly in resource-limited settings.

Clinical implementation of preemptive pharmacogenomics testing for personalized medicine at an academic medical center.

This article describes the implementation of preemptive clinical pharmacogenomics (PGx) testing linked to an automated clinical decision support (CDS) system delivering actionable PGx information to clinicians at the point of care at UCSF Health, a large Academic Medical Center. A multidisciplinary team developed the strategic vision for the PGx program. Drug-gene interactions of interest were compiled, and actionable alleles identified. A genotyping platform was selected and validated in-house. Following HIPAA protocols, genotype results were electronically transferred and stored in electronic health records (EHRs). CDS was developed and integrated with electronic prescribing. We developed a customized PGx program for 56 medications and 15 genes. Two hundred thirty-three pharmacogenomic prescribing alerts and 15 pharmacogenomic testing prompts, approved by clinicians, were built into EHR to deliver actionable clinical PGx information to clinicians. Our multidisciplinary team successfully implemented preemptive PGx testing linked to point-of-care CDS to guide clinicians with precise medication decision-making.

Implementation of Integrated Clinical Pharmacogenomics Testing at an Academic Medical Center.

Pharmacogenomics has demonstrated benefits for clinical care, including a reduction in adverse events and cost savings. However, barriers in expanded implementation of pharmacogenomics testing include prolonged turnaround times and integration of results into the electronic health record with clinical decision support. A clinical workflow was developed and implemented to facilitate in-house result generation and incorporation into the electronic health record at a large academic medical center. An 11-gene actionable pharmacogenomics panel was developed and validated using a QuantStudio 12K Flex platform. Allelic results were exported to a custom driver and rules engine, and result messages, which included a diplotype and predicted metabolic phenotype, were sent to the electronic health record; an electronic consultation (eConsult) service was integrated into the workflow. Postimplementation monitoring was performed to evaluate the frequency of actionable results and turnaround times. The actionable pharmacogenomics panel covered 39 alleles across 11 genes. Metabolic phenotypes were resulted alongside gene diplotypes, and clinician-facing phenotype summaries (Genomic Indicators) were presented in the electronic health record. Postimplementation, 8 clinical areas have utilized pharmacogenomics testing, with 56% of orders occurring in the outpatient setting; 22.1% of requests included at least one actionable pharmacogene, and 67% of orders were associated with a pre- or postresult electronic consultation. Mean turnaround time from sample collection to result was 4.6 days. A pharmacogenomics pipeline was successfully operationalized at a quaternary academic medical center, with direct integration of results into the electronic health record, clinical decision support, and eConsult services.

Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer

To date, the clinical benefit and utility of implementing a DPYD/UGT1A1 pharmacogenetic-informed therapy with fluoropyrimidines and/or irinotecan have not been prospectively investigated. To examine clinically relevant toxic effects, hospitalizations, and related costs while preserving treatment intensity and efficacy outcomes in patients with gastrointestinal cancer. This nonprespecified secondary analysis stems from Pre-Emptive Pharmacogenomic Testing for Preventing Adverse Drug Reactions (PREPARE), a multicenter, controlled, open, block-randomized, crossover implementation trial conducted from March 7, 2017, to June 30, 2020, and includes data from Italy according to a sequential study design. The study population included 563 patients (intervention, 252; control [standard of care], 311) with gastrointestinal cancer (age ≥18 years) who were eligible for fluoropyrimidine and/or irinotecan treatment. Data analysis for the present study was performed from May 27 to October 10, 2024. Participants with actionable variants (DPYD*2A, DPYD*13, .DPYD c.2846A>T, and DPYD c.1236G>A for fluoropyrimidines, and UGT1A1*28, UGT1A1*6, and UGT1A1*27 for irinotecan) received drug or dose adjustments based on Dutch Pharmacogenetics Working Group recommendations. The primary outcome was clinically relevant toxic effects (National Cancer Institute Common Terminology Criteria for Adverse Events grade ≥4 hematologic, grade ≥3 nonhematologic, or causing hospitalization, fluoropyrimidines and/or irinotecan causally related). Secondary outcomes included hospitalization rates, toxic effect management costs, intensity of treatment, quality-adjusted life-years, and 3-year overall survival. Overall, 1232 patients were enrolled in Italy, with 563 included in this analysis (317 [56.3%] men; median age, 68.0 [IQR, 60.0-75.0] years). In the intervention arm, carriers of any actionable genotype exhibited a 90% lower risk of clinically relevant toxic effects compared with the control arm (odds ratio, 0.1; 95% CI, 0.0-0.8; P = .04). They also presented higher toxic effect management costs per patient ($4159; 95% CI, $1510-$6810) compared with patients in the intervention arm ($26; 95% CI, 0-$312) (P = .004) and a higher rate of hospitalization (34.8% vs 11.8%; P = .12). The differences were not significant among all patients. Three-year overall survival did not differ significantly between arms, while quality-adjusted life-years significantly improved in the intervention arm. The pharmacogenetics-informed approach did not manifest a detrimental effect on treatment intensity in actionable genotype carriers. In this secondary analysis of PREPARE, pretreatment application of DPYD- and UGT1A1-guided treatment appeared to increase safety and reduce hospitalizations and related costs in patients with gastrointestinal cancer. Clinical benefit did not appear to be affected. ClinicalTrials.gov Identifier: NCT03093818.

Pharmacogenomic insights into tuberculosis treatment shows the NAT2 genetic variants linked to hepatotoxicity risk: a systematic review and meta-analysis

BackgroundTuberculosis (TB) patients undergoing anti-tuberculosis treatment often face serious adverse drug reactions, such as hepatotoxicity. Genetic variants of the N-acetyltransferase 2 (NAT2) gene have been linked to an increased risk of these toxic events.ObjectiveThis study aims to provide a comprehensive evaluation of the evidence linking NAT2 genetic variants to anti-tuberculosis drug-related hepatotoxicity (ATDH).MethodA comprehensive review and meta-analysis was performed by accessing databases such as PubMed, Scopus, and Web of Science. A total of 24 articles were incorporated into the dataset. Meta-analyses were conducted to gather estimates of the association between the slow acetlylators (SA) genotype and ATDH. The studies were stratified by ethnicity, regimen, genotyping methods, criteria for liver toxicity, and dosage. Also, meta-analysis for the specific SA type that was most likely responsible for the ATDH was also conducted.ResultsThe included studies showed individuals with a slow NAT2 acetylator had a significantly greater risk of experiencing hepatotoxicity ATDH (odds ratio [OR] 2.52 (95% CI: 1.95–3.27; p value < 0.001) compared to individuals with other types of acetylator (i.e., rapid and immediate). Among individuals with slow acetylator NAT2*5/7, NAT2*5/6, and NAT2*6/6 genotypes, there is a greater likelihood of association compared to other variations.ConclusionOur meta-analysis confirms a significant association between slow NAT2 acetylator and increased hepatotoxicity risk. The findings from the present underscore the potential of pharmacogenomic testing to improve TB treatment outcomes. By identifying patients with the slow acetylator NAT2 genotype, healthcare providers can predict an increased risk of anti-tuberculosis drug-induced hepatotoxicity. This allows for personalized treatment strategies, such as adjusting drug dosages or selecting alternative therapies, to minimize adverse effects and optimize efficacy.

Exploring the preparedness of hospital pharmacists practising in Southwest London for implementing pharmacogenomics testing.

Pharmacogenomics (PG), the study of how genetic variations impact individual responses to drugs, has seen significant advancements globally in recent years. Hospital pharmacists play a crucial role in multi-disciplinary teams and understanding their preparedness to deliver PG services is essential for successful integration into the healthcare systems. This study evaluates their knowledge, training and seeks their views on PG testing implementation. A cross-sectional study was conducted on hospital pharmacists practising in Southwest London with the sample size determined as 137. The study was ethically approved. A structured, self-administered questionnaire was initially piloted, then distributed using emails with a link to Microsoft Form over a three-month period. It comprised 31 questions covering training levels, confidence, knowledge, perceptions, barriers to implementation and demographics. A total of 46 responses were received achieving a response rate of 33.6%. The study revealed that 65% of participants had limited familiarity or understanding of PG. Over 50% indicated not receiving previous undergraduate or postgraduate training relevant to PG and accordingly their responses to the PG knowledge questions were lacking. Pharmacists with postgraduate training demonstrated better awareness and knowledge. An overwhelming number of participants envisaged carving a role for themselves favouring those that would complement their expertise in medicine management such as recommending appropriate treatment and dosages and suggestions based on PG testing results. Barriers identified were mostly concerning financial cost and shortage of trained staff to support PG services. Most surveyed pharmacists were not prepared to deliver PG services and thus require tailored training; nonetheless, they exhibited a positive attitude towards PG suggesting a willingness to bridge learning gaps. This presents an opportunity for relevant organisations to provide necessary training and for universities to enhance the curriculum enabling pharmacists to be involved in PG implementation.

Pharmacogenomic approaches for tailoring medication to genetic profiles in diverse populations

Pharmacogenomics, a branch of precision medicine, focuses on how genetic variations influence individual responses to drugs, allowing for more tailored and effective treatments. This approach has the potential to significantly enhance therapeutic outcomes by improving drug efficacy, minimizing adverse reactions, and optimizing medication use. By considering genetic makeup, pharmacogenomic strategies enable healthcare providers to personalize treatments for patients, particularly in the management of complex conditions like cancer, cardiovascular diseases, and mental health disorders. However, pharmacogenomics must be applied equitably across all populations to reach its full potential. Inclusive research and comprehensive policies are crucial in addressing disparities in access to pharmacogenomic testing and therapies, particularly for underrepresented and marginalized communities. This paper discusses the importance of advancing pharmacogenomic approaches in personalized medicine, emphasizing the need for diverse research and equitable access to ensure that these innovations benefit all patients.

Pharmacogenomic testing and implications for psychiatric medication prescribing

Pharmacogenomic testing and implications for psychiatric medication prescribing

Clinical utility of pharmacogenomic testing for patients with coccidioidal meningitis.

Coccidioidomycosis can cause severe meningitis, requiring lifelong treatment. In this study, we sought to better understand the potential effect of pharmacogenomic testing on treatment outcomes of patients with coccidioidal meningitis. Of 13 patients with coccidioidal meningitis who underwent pharmacogenomic testing, 11 had genetic variants of CYP2C19 and CYP3A5 that affect antifungal efficacy. These results led to real-time treatment changes and future antifungal planning. Routine pharmacogenomic testing helps to avoid antifungal treatments that are futile or lead to adverse effects.

Pharmacogenomics in the treatment of mental disorders.

Pharmacogenomics lies at the intersection of pharmacology and genomics. It analyzes the impact of genetic variants on patient’s response to a specific drug. Pharmacogenomic tests involve the analysis of variants of genes responsible for drug metabolism, to determine the rate of drug metabolism and apply this information to clinical practice. Pharmacogenomics assists in selecting the appropriate drug and adjusting its dose to minimize side effects while maximizing the effectiveness of a drug, which accelerates the introduction of effective therapy. The prospects for its application in psychiatry are promising, although the creation of uniform recommendations is difficult due to the complexity of mental disorders and the influence of other factors, such as interactions between medications. Therefore, recommendations created by different institutions differ significantly. The aim of this article is to discuss the current possibilities of using pharmacogenomics in psychiatry and the difficulties of introducing it as a standard of psychiatric treatment.

Contemporary and prospective use of azathioprine (AZA) in viral, rheumatic, and dermatological disorders: a review of pharmacogenomic and nanotechnology applications.

Azathioprine (AZA) has been extensively used for immunomodulatory effects in autoimmune disorders and transplantation. This article is proposed to review the contemporary and prospective use of AZA in viral, rheumatic, and dermatological disorders. The primary objective is to draw attention to possible developments in regards to AZA application in recent years, with an emphasis on the use of pharmacogenomics and nanotechnology to improve its efficacy in practice. This study reveals that AZA, having the active metabolites 6-mercaptopurine (6-MP) and 6-thioguanine (6-TG), may be useful in the treatment of systemic lupus erythematosus (SLE), pemphigus vulgaris, and psoriasis. Pharmacogenomic testing of thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) genotypes minimizes the occurrence of myelosuppression. Furthermore, new formulations of AZA using biocompatible polymers and nanoparticles for drug delivery were reported to improve its efficacy and lower systemic toxicity. This paper aims to establish the multifunctional nature of AZA in modern medicine, thus emphasizing its potential for other applications. Through the combination of pharmacogenomic analysis along with nanotechnology application, AZA makes the promise of enhancing patients' treatment efficacy and extending the stock of medical information available. These advancements offer new possibilities for application of precision medicine and improvements in the use of AZA therapy.

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 the 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 laboratory. 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 to $50 per 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 when 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.

Understanding the Biology and Testing Techniques for Pharmacogenomics in Oncology: A Practical Guide for the Clinician.

Pharmacogenomic (PGx) testing is a growing area of personalized medicine with demonstrated clinical utility in improving patient outcomes in oncology. PGx testing of pharmacogenes affecting drug pharmacokinetics, pharmacodynamics, and response can help inform drug selection and dosing of several anticancer therapies and supportive care medications. Several PGx testing techniques exist including polymerase chain reaction (PCR), MassARRAY, microarray, and sequencing. This review article provides a clinician-friendly guide of these techniques. Understanding the advantages, limitations, ideal use, and potential clinical applications of each platform can help clinicians choose the appropriate PGx testing platform for specific use cases.

Scoping review of enablers and challenges of implementing pharmacogenomics testing in the primary care settings

IntroductionPharmacogenomic testing (PGx) plays a crucial role in improving patient medication safety, yet ethical concerns and limitations impede its clinical implementation in the primary care settings.AimsTo systematically review the current...

CYP3A5 pharmacogenetic testing for tacrolimus in pediatric heart transplant patients: a budget impact analysis.

Pharmacogenomic testing can optimize drug efficacy and minimize adverse effects. CYP3A5 polymorphisms affect the metabolism of tacrolimus. We sought to estimate the budget impact of preemptive pharmacogenomic testing for CYP3A5 in pediatric heart transplantation patients from an institutional perspective. A decision tree was constructed to estimate the budget impact of pediatric heart transplant patients (age ≤18 years) initiated on tacrolimus with and without CYP3A5 pharmacogenomic testing. The budget impact of preemptive pharmacogenomic testing versus no pharmacogenomic testing was calculated. One-way sensitivity analysis and alternative analyses were conducted to assess the robustness of results to changes in model parameters. CYP3A5 genotype-guided dosing provided savings of up to $17 225 per patient compared to standard dosing. These savings decreased to $11 759 when using another institution's data for the standard-dosing group. The time to achieve therapeutic concentration in the poor metabolizer genotype-guided dosing group had the largest impact on cost savings while the cost of the pharmacogenetic test had the smallest impact on cost savings. Implementing CYP3A5 testing could save $17 225 per pediatric heart transplant patient receiving tacrolimus. As pharmacogenomic testing becomes more widespread, institutions should track resource requirements and outcomes to determine the best implementation policies going forward.