Genomics education for health care professionals in the 21st century.

RECENT GENOMIC DISCOVERIES HAVE BROUGHT ABOUT far-reaching advances in understanding the molecular basis of human health and disease. The vision for the future of genomics research developed by the National Human Genome Research Institute suggests more discoveries are likely to occur over the next few decades. These insights have helped reveal remarkable and unexpected complexities of human biology; however, this scientific reality has slowed the immediate translation of genomic discoveries to health benefits. Nevertheless, the early implementation of genomic medicine has brought clinically important advances that rival any other period of discovery in the history of Western medicine. For example, in 1990 the genetic and molecular basis was understood for fewer than 2% of the estimated 7000 suspected mendelian conditions; in 2011, approximately 40% of mendelian conditions have a known molecular basis. This 20-fold increase in disease-gene discovery has had immediate benefits for myriad affected individuals and families who now have access to accurate diagnostic testing, and the horizon holds hope for novel treatments in many cases. Likewise, advanced genomic technologies are helping to unravel the multifaceted nature of cancer and common complex conditions, such as heart disease and diabetes. More than a thousand newly identified genetic variants have been shown to be associated with such conditions, and many of these variants point to previously unsuspected biological pathways. Although much work remains, these discoveries offer promising avenues for clinical applications informed by genomic discoveries. The appropriate use of such applications will require that clinicians be sufficiently versed in genomics to understand when it should be applied and to communicate the potential limitations and benefits to their patients. Calls for enhanced genomics education for health care professionals predate completion of the Human Genome Project. Despite this, recent evidence suggests that large segments of the physician community are not adequately trained to make appropriate use of genomic advances. This lack of training has not escaped the public’s attention: a national poll of 1000 US adults revealed that 90% lacked confidence in their clinician’s ability to understand and use genomic information. Past efforts to enhance the genomics literacy of health care professionals have often taken the form of a push of information from the genomics community to other professional groups. The underlying assumption of these efforts has been that spontaneous interest in additional genomics education would follow. The push approach has met with reasonable success in the nursing and physician assistant communities. For example, the nursing profession has internally developed genomics education competencies, which have now been broadly adopted across 50 organizations. Linking these competencies with program accreditation and individual certification has been a major driver for the incorporation of genomics into the training and continuing education of the nursing profession. However, the push approach to genomics education has not been particularly successful in physician communities. The reasons for this are complex, but can be distilled into 4 interrelated issues. First, physicians are relentlessly practical. Until recently, most genomic advances were relevant to a very small subset of clinicians; this is changing rapidly. Second, the initial fruits of genomic medicine, such as testing for hereditary cancer syndromes, arrived at a time when the health care ecosystem was under great stress. This virtually guaranteed that any new idea, unless simple and easily adopted, would face passive neglect (if not outright active resistance). Third, the clinical application of genomics does not have a tradition of adherence to the precepts of evidence-based medicine. The first forays of genomics into clinical medicine related to rare genetic diseases, for which it is often impossible to undertake large, prospective, placebocontrolled, blinded trials of diagnostics and therapeutics. Therefore, as new genomic technologies have emerged, the genomics community has often accepted them as beneficial based on little direct clinical evidence. The rapid pace of genomic discovery has compounded the problem, because clinical trials can take years to complete. Often a lack of robust evidence has impeded adoption of genomic ad-