The inclusion of health data standards in the implementation of pharmacogenomics systems: a scoping review.

Background: Despite potential benefits, the practice of incorporating pharmacogenomics (PGx) results in clinical decisions has yet to diffuse widely. In this study, we conducted a review of recent discussions on data standards and interoperability with a focus on sharing PGx test results among health systems. Materials & methods: We conducted a literature search for PGx clinical decision support systems between 1 January 2012 and 31 January 2020. Thirty-two out of 727 articles were included for the final review. Results: Nine of the 32 articles mentioned data standards and only four of the 32 articles provided solutions for the lack of interoperability. Discussions: Although PGx interoperability is essential for widespread implementation, a lack of focus on standardized data creates a formidable challenge for health information exchange. Conclusion: Standardization of PGx data is essential to improve health information exchange and the sharing of PGx results between disparate systems. However, PGx data standards and interoperability are often not addressed in the system-level implementation.

SJS/TEN 2019: From science to translation.

Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are potentially life-threatening, immune-mediated adverse reactions characterized by widespread erythema, epidermal necrosis, and detachment of skin and mucosa. Efforts to grow and develop functional international collaborations and a multidisciplinary interactive network focusing on SJS/TEN as an uncommon but high burden disease will be necessary to improve efforts in prevention, early diagnosis and improved acute and long-term management. SJS/TEN 2019: From Science to Translation was a 1.5-day scientific program held April 26-27, 2019, in Vancouver, Canada. The meeting successfully engaged clinicians, researchers, and patients and conducted many productive discussions on research and patient care needs.

Are pharmacists from the province of Quebec ready to integrate pharmacogenetics into their practice.

Aim: The pharmacists are identified as one of the best positioned health professionals to lead intercollaborative efforts in tailoring medication based on pharmacogenetic information. As pharmacotherapy specialists, they can take on a prominent role in ordering and interpreting pharmacogenetic test results and then guiding optimal drug selection and dose based on those results. Participants & methods: To assess the readiness of pharmacists and trainees in the province of Quebec to assume this role, we surveyed their knowledge in (pharmaco)genetics, their confidence in their ability to use pharmacogenetics and their attitude toward the integration of this tool in clinical practice. Results: A total of 99 pharmacists (community: 67.7%, hospital: 24.2% and other: 8.1%) and 36 students volunteered in a self-administered online survey. About 50% of the questions on the participants' knowledge are answered correctly, with a stepwise increase of right answers with hours of education in (pharmaco)genetics (51.2, 63.8 and 76.7% for <5, 5-25 and >25 h respectively; p < 0.0001). While the majority of participants believe that pharmacogenetics will gain more room in their future practice (80.7%), the overall rate of confidence in their ability to use pharmacogenetics information is low (22%) and 90.3% desire more training. Conclusion: The limited experience of pharmacists in pharmacogenetics appears to be a barrier for its integration in clinical practice.

Opinion, experience and educational preferences concerning pharmacogenomics: an exploratory study of Quebec pharmacists.

Aim: To evaluate the current opinion, experience and educational preferences of pharmacists in Quebec concerning pharmacogenomics. Method: A web-based survey containing 25 questions was sent to all Quebec pharmacists. Results: Most pharmacists were willing to advise patients (81%) and physicians (84%) on treatment choices based on pharmacogenomic test results after proper training. Only 31% had been previously exposed to pharmacogenomic test results, and 91% were favorable to pharmacogenomics training, with e-learning through interactive video sessions (69%). The preferred training session length was between 1 and 3 h (59%). Hospital pharmacists were more often exposed to pharmacogenomic tests (p < 0.0001) and more frequently advised patients on treatment choices (p < 0.001) than community pharmacists. Conclusion: Pharmacists remain favorable toward pharmacogenomics, but its use in clinical practice stays limited. Identifying the educational preferences of pharmacists may help in the development of educational programs to help them integrate pharmacogenomics in their clinical practice.

Pharmacogenomics: An evolving clinical tool for precision medicine.

Pharmacogenomics, ie, the study of how an individual's genomic profile influences his or her response to drugs, has emerged as a clinical tool to optimize drug therapy. Certain variants in some genes increase the risk of severe, life-threatening adverse effects from certain drugs. Integrating pharmacogenomics into clinical practice to assist in drug selection and dosing has the potential to improve the outcomes of treatment, reduce the risk of drug-induced morbidity and death, and be cost-effective.

Current practices in the delivery of pharmacogenomics: Impact of the recommendations of the Pharmacy Practice Model Summit.

PURPOSE: This report examines and evaluates pharmacogenomics as an emerging science as it relates to the Practice Advancement Initiative and its predecessor the Pharmacy Practice Model Initiative's consensus statements for optimal pharmacy practice models. SUMMARY: Pharmacogenomics is one of many emerging sciences to impact medication management and delivery of patient care. Increasingly, biomarkers are included in drug labeling and can assist pharmacists with personalizing medicine to optimize patient therapies and avoid adverse effects. The 2011 ASHP Pharmacy Practice Model Summit generated a list of 147 consensus statements for optimal pharmacy practice. Of these, 1 statement explicitly describes adjustment of drug regimens based on genetic factors as an essential activity of pharmacist-provided drug regimens, and 9 other statements provide additional support for incorporation of this emerging science into all aspects of patient care provided by pharmacists. We describe 4 institutions that have made significant inroads to implementing pharmacogenomics, to provide a framework and serve as resources for other institutions initiating their own pharmacogenomics implementation journeys. CONCLUSION: Through prioritized efforts of the pharmacy profession and health care institutions, pharmacogenomics will be disseminated and implemented, and the goal of the Pharmacy Practice Model Initiative's consensus statements of improving health care using patients' genetic characteristics will be realized.

Emerging Applications of Metabolomics in Clinical Pharmacology.

Metabolic disturbances have been associated with many human diseases, including cancer, diabetes, and cardiovascular disease. Metabolomics, a rapidly growing member of the -omics family, investigates cellular metabolism by quantifying metabolites on a large scale and provides a link between metabolic pathways and the upstream genome that governs them. With the advances in analytical technologies, metabolomics is becoming a powerful tool for identifying diagnostic biomarkers of diseases, elucidating the pathological mechanisms, discovering novel drug targets, predicting drug responses, interpreting the mechanisms of drug action, as well as enabling precision treatment of patients. In this review, we highlight the recent advances of technologies and methodologies in metabolomics and their applications to the field of clinical pharmacology. Recent publications from 2013 to 2018 are covered in the review, and current challenges and potential future directions in the field are also discussed.

Implementation and obstacles of pharmacogenetics in clinical practice: An international survey.

AIMS: Eight years ago, a paper-based survey was administered during the World Pharma 2010 meeting, asking about the challenges of implementing pharmacogenetics (PGx) in clinical practice. The data collected at the time gave an idea about the progress of this implementation and what still needs to be done. Since then, although there have been major initiatives to push PGx forward, PGx clinical implementation may still be facing different challenges in different parts of the world. Our aim was therefore to distribute a follow-up international survey in electronic format to elucidate an overview on the current stage of implementation, acceptance and challenges of PGx in academic institutions around the world. METHODS: This is an online anonymous LimeSurvey-based study launched on 11 November 2018. Survey questions were adapted from the initially published manuscript in 2010. An extensive web search for worldwide scientists potentially involved in PGx research resulted in a total of 1973 names. Countries were grouped based on the Human Development Index. RESULTS: There were 204 respondents from 43 countries. Despite the wide availability of PGx tests, the consistently positive attitude towards their applications and advances in the field, progress of the clinical implementation of PGx still faces many challenges all around the globe. CONCLUSIONS: Clinical implementation of PGx started over a decade ago but there is a gap in progress around the globe and discrepancies between the challenges reported by different countries, despite some challenges being universal. Further studies on ways to overcome these challenges are warranted.

Genetic Variations and Precision Medicine.

The time and costs associated with the sequencing of a human genome have decreased significantly in recent years. Many people have chosen to have their genomes sequenced to receive genomics-based personalized healthcare services. To reach the goal of genomics-based precision medicine, health information management (HIM) professionals need to manage and analyze patients' genomic data. Two important pieces of information from the genome sequence are the risk of genetic diseases and the specific medication or pharmacogenomic results for the individual patient, both of which are linked to a patient's genetic variations. In this review article, we introduce genetic variations, including their data types, relevant databases, and some currently available analysis methods and systems. HIM professionals can choose to use these databases, methods, and systems in the management and analysis of patients' genomic data.

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

OBJECTIVES: To determine the feasibility of implementing a pharmacist-led pharmacogenomics (PGx) service for the Program of All-Inclusive Care for the Elderly (PACE). SETTING: A national centralized pharmacy providing PGx services to community-based PACE centers. PRACTICE DESCRIPTION: Individuals 55 years of age and older enrolled in PACE who underwent PGx testing as part of their medical care (n = 296). PRACTICE INNOVATION: Pharmacist-led PGx testing, interpreting, and consulting. EVALUATION: Implementation 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. RESULTS: Challenges 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. CONCLUSION: Implementing 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.

New Pharmacogenomics Research Network: An Open Community Catalyzing Research and Translation in Precision Medicine.

The goal of pharmacogenomics research is to discover genetic polymorphisms that underlie variation in drug response. Increasingly, pharmacogenomics research involves large numbers of patients and the application of new technologies and methodologies to enable discovery. The Pharmacogenomics Research Network (PGRN) has become a community-driven network of investigators spanning scientific and clinical disciplines. Here, we highlight the activities and types of resources that enable PGRN members to enhance and drive basic and translational research in pharmacogenomics.