Preparing Health Professionals for Individualized Medicine

Joseph D McInerney; Emily Edelman; Therese Nissen; Kate Reed; Joan A Scott


Personalized Medicine. 2012;9(5):529-537. 

In This Article

Components of Effective Genomics Education for Health Professionals

Although many individuals and professional societies have articulated the need for genomics education for clinicians, the approaches to take are less well defined. Similarly, the BOI report provides little guidance on the competencies or content that should be addressed, on delivery of educational interventions, or on the methods for evaluating their effectiveness. During the last 12 years, the National Coalition for Health Professional Education in Genetics (NCHPEG, MD, USA) has gained considerable insight into those questions through the development of more than 20 seperate educational programs for a broad range of health professionals.[104] We have found that the central challenge is to meld practical and conceptual knowledge into an amalgam that is immediately applicable in the clinic but also instills broader messages that allow health professionals to see healthcare 'through a genetic lens'.[18,19] The former will meet immediate clinical needs while the latter will provide a conceptual foundation to prepare health professionals for the future of genomic medicine.

Attention to the practical and the conceptual serves as reminder that the end point of education about genomic medicine is not simply a set of programs that acquaints clinicians with relevant facts or procedures. As we see it, the product is instead a set of integrated instructional processes that help clinicians understand the current and emerging role of genomic technology in their own disciplines and also provide opportunities for learners to apply new knowledge and practice new skills. That objective in turn requires a well-tested development process that involves the end users at every step to help ensure that the instructional program reflects the reality of their practice.


Because genomic technologies affect a broad range of health professionals, the audiences for genomics education vary widely in characteristics, ranging from scopes of practice and clinical settings to prior understanding of genetics and stage of professional training. This variation among health professionals is another reason to involve end users in the development of any educational program. Equally as important, the audiences vary in terms of motivation. Some, for example, are driven by external factors such as new practice guidelines on genetic testing or by recertification examinations that contain new content in genomic medicine. Others seek education because of intrinsic personal or institutional interests. The University of Pittsburgh Medical Center (PA, USA), for example, has sought genomics education for its staff to halt the inappropriate ordering of uncompensated genetic testing.[105]

Motivation matters because it influences the audience's perception of relevance and its receptivity to instruction. Extrinsically driven, top-down education, for example, easily can devolve into a focus on the procedural – 'just tell me what I need to do'. Intrinsically driven efforts, on the other hand, are more conducive to bottom-up collaboration that grounds education in a shared understanding of the reasons for genomics education. That approach produces strategies for appropriate integration of genomic medicine within a given practice or across an entire institution.

At the intersection of intrinsic and extrinsic motivation, a number of medical schools in the USA[20] have begun to structure undergraduate medical education around the theme of genetics or genomics, under the assumption that those disciplines provide insights into all of disease and, ultimately, into the work of all future physicians. Likewise, schools of nursing and institutions that train physician assistants have begun to incorporate genetics and genomics into their curricula and certifying exams, in both instances with the guidance of well-conceived competencies.[21,22] Other disciplines such as pharmacy have produced educational materials for students in training, and that trend is likely to continue as genomics touches ever more professions.[23]

Although there is no question that the education of future clinicians is imperative, the BOI report makes the case for another important focus:

"Ensuring that genomics is an integral part of initial medical/health education and training will be an important step towards developing the workforce. But for the next 15 years at least, the majority of staff who will have to cope with the movement of genomics into mainstream clinical work will be those who are already trained and accredited. That is why the bigger educational challenge is to close the skills gap within the existing workforce, via continuing professional development (CPD) arrangements". [101]

NCHPEG has developed educational programs for the initial training of health professionals and for CPD. We do not approach genomics as a separate subject, but rather attempt to integrate it into everything health professionals do. The intent is to produce an educational story that is applicable to the learner, which helps him or her answer the question, 'How do I get involved in this content?' A good story makes the learning more tangible. The sections that follow are applicable to initial training and to CPD, although the discussions of delivery mechanisms and dissemination are more germane to decentralized CPD efforts than to formal educational settings such as schools of medicine and nursing.


Although evaluation often is an afterthought in educational initiatives, early attention to assessment is critical because it helps to define the central aspects of any educational program:

  • What do we want the learners to do differently after using this program? For example, we want them to take and interpret an accurate family history or order genetic tests appropriately and accurately. Defining the clinical competencies the program will address is the critical first step in designing the educational intervention;

  • What do the learners need to know to accomplish these tasks and to start building a conceptual foundation to understand future advances in the field? For example, we want them to know the 'red flags' that might signal genetic contributions to disease in an individual or family. A focus on the minimal information required to accomplish the task at hand increases the likelihood that the learner will take away key messages;

  • How will we know that we have succeeded in increasing knowledge and changing behavior? For example, we can examine patient charts before and after the intervention to look for applications of new knowledge, and we can review order forms for genetic tests before and after the educational intervention to assess changes in clinician behavior. Identification of clear objective measures helps to engage and motivate the learner.

Attention to evaluation during the planning stages and throughout the process of development helps to crystalize the learning objectives and ensures that the evaluation tools and metrics are appropriate to the task.

Competencies & Supporting Content

As Wilfred Trotter once noted:

"The mind likes a strange idea as well as the body likes a strange protein and resists it with similar energy."
– Wilfed Trotter (1941) [24]

For many health professionals, genetics is in the 'strange idea' category to which Trotter alludes. Most have had limited formal exposure to genetics, and for many the discipline seems difficult, esoteric and disconnected from their daily professional lives. What, then, should we teach to overcome any inherent resistance to this new information?

For NCHPEG, the answers to that question have focused on content that is immediately relevant to the needs of the health professionals in question, often derived from a set of core competencies originally published by the organization in 2001.[25] Within that context, the interests and motivations of our diverse target audiences have caused our programs to coalesce around several consistent clinical competencies, although we elaborate that content quite differently based on the clinical issues at hand.

  • Identification of individuals and families who are at risk of disease: our focus here often is on the collection and accurate interpretation of family history; the first genetic test and still of significant value when done properly;[26]

  • The use of genetic information for patient management, including indications for referral to genetic services: clinicians wish to know the evidence that supports the clinical utility of the approaches we propose. The evidence might comprise comparative effectiveness research, formal meta-analyses or guidelines from professional societies, which may not include actual evidence but can serve as a proxy for the same. This content provides a good opportunity to discuss whether genomic medicine should be held to the same evidentiary standards as those for other areas of healthcare;

  • Genetic testing: clinicians seek answers to the following questions – which is the correct test to order in this situation? What do I tell my patient about the test in advance? How do I order the test? What do the results mean for my patient, and how do I explain them? How will the test result affect patient management, and will a geneticist have to be involved for the long term? New technologies such as whole-genome sequencing and whole-exome sequencing are poised to have a significant impact on clinical practice.[27,106] Although most such tests now are ordered by specialists such as oncologists or neurologists, the results nonetheless have the potential to find their way to primary care providers, who must be able to understand their implication and explain them to their patients. The growth of direct-to-consumer genetic testing ensures that patients increasingly will ask their clinicians to interpret results from those tests as well;[28,29]

  • Communication: nongeneticists are especially interested in the most effective ways to communicate genetic risk and often are at the front line of having to do so. Because of the myriad implications of genetic information for patients and families, clinical geneticists and genetic counselors are generally more concerned about communication than are many other health professionals. Results from genetic testing or from family histories, for example, can include unexpected predictive information for the patient or relatives and can raise questions about issues such as consanguinity and genetic discrimination in insurance or employment. In addition, recent research on the limited predictive value of personal genome sequencing[30] highlights the importance of explanations that convey the probabilistic – as opposed to deterministic[31] – nature of much of genomic medicine.

Our objective in focusing on these broad competencies is to provide the knowledge and skills nongeneticists require to incorporate genomic medicine into practice accurately and responsibly and to prepare clinicians to evaluate new genomic technologies as they emerge. The specific skills and supporting content can vary considerably based on the clinical audience, and here the distinction between accurate and complete is important: an explanation of the capabilities and limitations of genetic testing, for example, can be quite accurate for the nongeneticist without inclusion of the numerous details that would meet the specialist's definition of complete. An editorial in the 10 February 2012 issue of Science drives home this point:

"…most lectures on biological topics appear so overloaded with unnecessary information, so obsessed with technical detail, and so cluttered with abbreviations, jargon, and acronyms as to be nearly incomprehensible to anyone but the specialist. More often than not [one] also waits in vain for a concluding remark that would reveal the broader implications and long-term goals of the work". [32]

Increasingly, our programs eschew the terms genetic disease and genetic disorder, which tend to reinforce the inappropriate assumption that there is a relatively small category of disease related to genes and, by exclusion, a broader category that is not. This view runs contrary to reality, which demonstrates that all disease has some genetic basis. One is used to hearing, for example, the question, 'Is this a genetic disease?' The more appropriate question is: 'To what extent are genetic variants contributing to this particular expression of disease?' Sometimes, as in the case of single-gene disorders, the genetic variants are quite salient, whereas in many common, complex diseases such as heart disease or mental illness, the role of genetic variants might be less so, with environmental factors playing a greater role in etiology.

Instructional Strategies & Delivery Mechanisms

Even the best content is unlikely to make an impact if it is packaged poorly, and the literature is clear that traditional, passive, didactic CPD programs are ineffective in changing provider behavior.[33,34] The same literature suggests that the ideal CPD model serves the needs of adult learners if it is first, interactive and case-based; second, competency-based; third, sequenced rather than a single event; fourth, layered to provide varying levels of information as needed by the participant (personalized instruction); and finally, incorporated into routine clinical practice.

Research and experience also demonstrate that knowledge alone is insufficient to change the behavior of practicing healthcare providers.[33,35] Furthermore, genetics and genomics must compete for the attention of healthcare providers in increasingly complex healthcare settings.[36] To be effective, educational initiatives must: underscore the relevance of genomics for clinicians and the populations they serve; address the competencies expected of clinicians; be delivered in a manner that meets clinicians' learning needs; and yet provide the fundamental concepts upon which providers can continue to build their knowledge base in genomic medicine.

Formal Learning Strategies

Case studies are effective and engaging for formal learning situations such as CPD because the cases focus on application and problem solving and provide the learner opportunities to practice new skills safely.[37,38] In contrast to lectures, case-based learning improves the richness of face-to-face instruction by promoting collaboration among learners who share experiences in the context of a clear clinical focus and under the guidance of an expert who can address misconceptions about content and clinical applications.[39] This approach allows one to frame genetics concepts in realistic clinical scenarios. Reinforcement of learning is critical, and the learner benefits from repeat exposure to the same concepts in different contexts, for example, the context of the provider and the context of the patient.[40–42] None of these strategies are new, but they remain the exception in CPD programs generally, including those in genomics.

Scalability & Dissemination of Formal Learning Strategies

As the BOI points out, dissemination of CPD programs can be a significant barrier to genomics education:

"This is a challenge not simply based on the numbers involved but also the delivery structures. Ultimately, many decisions about CPD are made at the local level and reflect local development priorities and individual professional interests". [101]

For the UK, the BOI report recommends a coordinated approach to CPD "for the National Health Service and the public health workforce." Unfortunately, the patchwork structure of the US healthcare system renders a coordinated approach to CPD impossible for almost any topic. Furthermore, genomics education in the USA lacks the formal, government-sanctioned mechanism that resides in the UK's highly contributory National Genetics Education and Development Centre (Birmingham, UK).[107]

NCHPEG has addressed the dissemination challenge primarily through the use of web-based programs, which can reach a wide audience without the constraints of time or geography. Although the literature[43,44] tells us that well-designed web-based learning is as effective as in-person learning, practicing health professionals still seem resistant to extended online instruction, because they lack the motivation or the time to complete the requisite tasks. Such extensive educational efforts might be better suited to situations that involve more captive audiences with different motivations for learning. Perhaps a more effective use of the web for CPD will be in the provision of point-of-care decision support and education, which must of necessity be brief and highly focused on one or a few clinical questions.

Many of the busy health professionals involved in NCHPEG's efforts prefer in-person CPD events. Here, the greatest challenge is to prevent such sessions from devolving into lecture-only events and instead provide formats that encourage and even require interaction and collaborative problem solving among the participants. The best learning occurs in social contexts in the workplace, often informally, with much repetition and expert feedback.[45]

Informal Learning Strategies

The increasing use of technology provides multiple opportunities for informal learning and offers alternatives to standard methods of implementing and disseminating educational messages. Dynamic, point-of-care educational tools that are embedded in the standard flow of work, for example, have a better chance of consistent use than those that are viewed as appendages to routine practice.[46] One obvious vehicle for this approach is the electronic medical record, which now is in place almost solely as a management tool and has yet to be adapted broadly as a mechanism for education in the clinic. Consider the potential benefits of collaborations with genetic testing laboratories to embed provider and patient education in the results the laboratories return to clinicians as well. Other venues conducive to the inclusion of educational messages include third-party payers, private health systems, community hospitals, professional societies and any other trusted sources of information for clinicians. The challenge is to assemble the right people to collaborate on development of educational strategies that address conceptual as well as practical needs and to consider institutional barriers that constrain the introduction and use of such tools.