The Pharmacogenomics Global Research Network Implementation Working Group: global collaboration to advance pharmacogenetic implementation.

Pharmacogenetics promises to optimize treatment-related outcomes by informing optimal drug selection and dosing based on an individual's genotype in conjunction with other important clinical factors. Despite significant evidence of genetic associations with drug response, pharmacogenetic testing has not been widely implemented into clinical practice. Among the barriers to broad implementation are limited guidance for how to successfully integrate testing into clinical workflows and limited data on outcomes with pharmacogenetic implementation in clinical practice. The Pharmacogenomics Global Research Network Implementation Working Group seeks to engage institutions globally that have implemented pharmacogenetic testing into clinical practice or are in the process or planning stages of implementing testing to collectively disseminate data on implementation strategies, metrics, and health-related outcomes with the use of genotype-guided drug therapy to ultimately help advance pharmacogenetic implementation. This paper describes the goals, structure, and initial projects of the group in addition to implementation priorities across sites and future collaborative opportunities.

Assessment of Late Thromboembolic Complications Post-Fontan Procedure in Relation to Different Antithrombotic Regimens: 30-Years' Follow-up Experience.

Background: The current CHEST guidelines recommend the use of antithrombotic therapy, either aspirin or warfarin, as a primary thromboembolic complications (TECs) prophylaxis in patients who undergo Fontan procedure, without specification on drug selection or duration of therapy. Objective: To investigate the incidence rate of late TECs, occurring after 1-year post-Fontan procedure and to assess the difference in rate of late TECs between warfarin and aspirin. Methods: A retrospective cohort study included patients who had Fontan procedures between 1985-2010 at our institution. Patients were stratified according to the antithrombotic regimen-warfarin, aspirin, or no therapy-at the time of TECs. Results: We screened 499 patients who underwent Fontan procedures; 431 procedures met the inclusion criteria. Over a median follow-up of 13.6 years (IQR= 8.7), freedom from late TECs at 5, 10, 15, and 20 years was 97.54%, 96.90%, 90.78%, and 88.07%, respectively. There was no difference in late TEC incidence rates per 1000 patient-years between warfarin and aspirin: 7.82 and 5.83 events, respectively; rate ratio= 1.34 (95% CI= 0.68-2.60). Warfarin was associated with a higher major bleeding incidence rate per 1000 patient-years: 3.70 versus 2.91 events with aspirin; rate ratio= 1.27 (95% CI= 0.49 to 3.29). Conclusion and Relevance: The incidence rate of late clinical TECs post-Fontan procedure in our population is low. Warfarin was not superior to aspirin for prevention of late TECs. Yet warfarin was associated with a higher rate of bleeding. This finding suggests a simpler antithrombotic regimen for prevention of TEC after 1-year post-Fontan procedure.

Assessing user perspectives on clinical pharmacogenomics consultation documentation: a user-centered evaluation.

The University of Florida Health Precision Medicine Program plays a crucial role in delivering pharmacogenomics (PGx) result notes to providers who request PGx testing. Despite this, there is currently a lack of a formal assessment of provider needs and established best practice design principles to guide the ongoing development of PGx result notes. This study aims to enhance the content and format of the PGx consult note at UF Health by incorporating valuable feedback from healthcare providers. Through in-depth user sessions involving 11 participants, we evaluated the usability of our consult note template. While overall satisfaction with the content was noted, specific sections, including those addressing phenoconversion and the medication list, were identified for revision to enhance clarity based on insightful provider feedback.

How to Implement a Pharmacogenetics Service at your Institution.

The vast majority of patients possess one or more pharmacogenetic variants that can influence optimal medication use. When pharmacogenetic data are used to guide drug choice and dosing, evidence points to improved disease outcomes, fewer adverse effects, and lower healthcare spending. Although its science is well established, clinical use of pharmacogenetic data to guide drug therapy is still in its infancy. Pharmacogenetics essentially involves the intersection of an individual's genetic data with their medications, which makes pharmacists uniquely qualified to provide clinical support and education in this field. In fact, most pharmacogenetics implementations, to date, have been led by pharmacists as leaders or members of a multidisciplinary team or as individual practitioners. A successful large-scale pharmacogenetics implementation requires coordination and synergy among administrators, clinicians, informatics teams, laboratories, and patients. Because clinical implementation of pharmacogenetics is in its early stages, there is an urgent need for guidance and dissemination of shared experiences to provide a framework for clinicians. Many early adopters of pharmacogenetics have explored various strategies among diverse practice settings. This article relies on the experiences of early adopters to provide guidance for critical steps along the pathway to implementation, including strategies to engage stakeholders; evaluate pharmacogenetic evidence; coordinate laboratory testing, results interpretation and their integration into the electronic health record; identify reimbursement avenues; educate providers and patients; and maintain a successful program. Learning from early adopters' published experiences and strategies can allow clinicians leading a new pharmacogenetics implementation to avoid pitfalls and adapt and apply lessons learned by others to their own practice.