It is time for educators to act: pharmacogenomics education and its implementation into clinical practice

Pharmacogenomics (PGx) is an emerging arm of pharmacology, a critical curriculum area, that explores how variations in a person's entire genetic make-up (i.e., their genome) affects medication response [1]. Genetic variations can affect treatment outcomes through many different pathways, including medication metabolizing enzymes and transport mechanisms (pharmacokinetics); medication targets (pharmacodynamics); and the immune system (allergic or hypersensitivity drug reactions). Therefore, interindividual genetic variability is one of the significant reasons behind varying response to medications, including medication therapeutic ineffectiveness and/or development of adverse drug reactions and toxicity [1]. Currently, integration of PGx into science curricula across both undergraduate and postgraduate degrees including biomedical science, medicine, nursing and pharmacy is either limited or lacks appropriate content volume and quality. In fact, many researchers and healthcare professionals who are expected to demonstrate sound understanding of PGx principles and their use in practice have not had PGx education [2]. Thus, gaps in PGx knowledge in the health-related workforce appear to be one of the major threats to patient safety across the globe. Additionally, the use of traditional, didactic educational approaches is on its way out due to the rapidly changing nature of PGx knowledge. PGx education via textbooks may provide foundational PGx knowledge for students, but for practicing clinicians, learning via textbooks takes a significant amount of time and by the time this occurs these tertiary resources may become outdated and lack up-to-date information relevant to current practice. There are few online resources including the Clinical Pharmacogenetics Implementation Consortium, the Dutch Pharmacogenetics Working Group, US FDA, and the Pharmacogenomics Knowledgebase with some of them including recommendations and guidelines [3]. These resources are considered useful educational tools to improve PGx knowledge, especially the PGx [4]. In the past, seminars and courses were delivered to registered healthcare professionals with no prior or limited PGx education [3] and it was reported that even a small amount of PGx education, such as an hour-long seminar, can significantly improve healthcare providers attitudes toward understanding of fundamental PGx principles and its importance in clinical testing [5]. However, it was not clear if these educational modules required certificate of completion and whether learnings were assessed in any way, shape, or format and linked to healthcare professionals' annual registration renewals. Additionally, one of the most recent reviews exploring PGx educational interventions in the university curriculum revealed that PGx education had a varied impact on the student knowledge and confidence in different domains including knowledge acquisition, pharmacogenomic data interpretation and communication of information to both patients and healthcare professionals [6]. Interestingly, most of the educational interventions were delivered to pharmacy students followed by smaller cohorts of medical and physician assistant students whereas none of the studies delivered pharmacogenomic education to nursing students [6]. Therefore, it is paramount that two-hit hypothesis approach is used in future health science education model.

The two-hit hypothesis approach should focus on two distinctive groups of learners: learners enrolled in the preregistration health science academic programs such as medicine, nursing and pharmacy and learners who are already registered healthcare professionals involved in medication-related activities. This idea calls for a redesign of the pharmacology curriculum in the preregistration academic programs and creation of a continuous professional development (CPD) platform. In the curriculum redesign, to ensure translation of learnings from the classroom to clinical practice, triangulated approach considering ‘over-crowded’ curricula, learner cognitive overload, and the PGx content breadth must be utilized. The PGx content needs to be built using scaffolding and blended method starting with basic genetics and then layering it with how genetic variations affect pharmacokinetics, pharmacodynamics and immune responses to medications. The Pharmacogenomics Knowledgebase, which is a credible, freely available online resource should be provided as an alternative to (often expensive) textbooks. The Pharmacogenomics Knowledgebase is a registered trademark of the US Department of Health and Human Services and is financially supported by multiple institutes within the US National Institutes of Health. The Pharmacogenomics Knowledgebase is not accredited academically, but it is a central resource where learners are to be provided with clear directions on how to assess the current clinical recommendations from resources like Clinical Pharmacogenetics Implementation Consortium and FDA. The fusion of theory and clinical practice recommendations and guidelines will surpass the difficulties of creating standard tertiary textbooks that may become quickly outdated, laden with content not specific to or required by individual genetic specific or pharmacology specific subjects, heavy, cumbersome and static. Having a consistent approach in integration of PGx into pharmacology curricula will improve future healthcare professionals' science knowledge and empower them to implement and/or request medication reviews more regularly and initiate discussions around PGx utility and consequent testing.

Creation of CPD platform is aimed at already registered healthcare professionals. This platform is to be housed within the national health practitioner registration and regulation agency and made available to healthcare professionals at all levels of clinical practice and competency (novice, advanced, consultant). Further to this, the PGx content within the platform will be embedded within the healthcare professionals’ annual registration renewals. For example, continuing education on PGx may be required by the National Association of Boards of Pharmacy for pharmacists in the US or by the Medical Board of Australia (MBA), Nursing and Midwifery Board of Australia (NMBA and Pharmacy Board of Australia (PBA) for medical practitioners, nurses and midwives and pharmacists in Australia, respectively. Depending on the level of familiarity with PGx concepts and use in practice, some healthcare professionals can use this platform to refresh their PGx knowledge and stay with up-to date evidence whereas those with no prior or limited PGx education, will use it to learn about PGx, its importance in clinical decision making and recent advances in the field. Furthermore, CPD platform is to include information on ways of ordering PGx tests, result reporting and result interpretation requirement according to healthcare profession. Learnings will be evaluated via engaged methods of self-assessment that will provide formative and immediate feedback to learners including case-based reflective exercises to support flexible learning and application to practice. Obtaining and submitting certificate of successful completion with other documentation required for healthcare professionals’ annual registration renewal should be encouraged.

Implementation of PGx principles into clinical practice is paramount as those principles bring up critical issues of patient safety and improve knowledge in clinical utility of PGx testing. For example, the implementation of PGx testing in seven European countries significantly reduced the risk of adverse drug reactions by 30% [7]. Given that adverse drug reactions are estimated to be the 4th leading cause of death in the USA [8], this commentary highlights the potential impact of widespread clinical implementation of PGx. Over 100 medications now have PGx recommendations in clinical practice guidelines or PGx information from regulatory agencies in their label. Thus, integration of PGx concepts into pharmacology curricula within health science academic programs and within healthcare professional CPD, and hence widespread education of healthcare professionals is needed for the full impact of PGx to be realized. Improving PGx knowledge for healthcare professionals involved in medication-related activities will accelerate PGx implementation into clinical practice and urge pretreatment genetic testing in the vulnerable population groups using high risk medications as well as medication naive patients. Hence, inducing a cultural shift in the 21st century healthcare workforce education by moving away from ‘one size fits all’ medicine to precision medicine will in turn significantly improve patient safety. For more in-depth information on PGx education, readers can find more information elsewhere [6,9–13].

Author contributions

S Kusljic: conceptualization; performing literature search; writing – original draft; writing – review and editing. JA Luzum: conceptualization; writing – review and editing.

Financial disclosure

The authors have no financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Competing interests disclosure

JA Luzum is a consultant for Ariel Precision Medicine. The authors have no other competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript apart from those disclosed.

Writing disclosure

No writing assistance was utilized in the production of this manuscript.