Genomic medicine: educational challenges

Abstract

I will begin and end this commentary on an optimistic, and perhaps heretical note: I am not concerned about physicians' lack of readiness to embrace genomic medicine. I believe that they will rise to the opportunity and that genomics will take its place as one of the major drivers of progress in modern medicine. I believe this because they have done it before – sweeping technological advancement is not new in medicine, and being prepared to embrace such change is fundamental to our medical education system. I will use as an imperfect example the application of imaging – especially magnetic resonance imaging (MRI) – in routine medical practice. I trained in neurology, as well as in genetics, just as computerized imaging was being introduced in medicine. I saw my first MRI images as a resident and was amazed at their anatomical clarity. I do not understand the physics of MRI. I have some idea that atomic nuclei, magnetism, and radio waves are involved. I remember learning about nuclear magnetic resonance in college chemistry, but have a hard time relating the ppm graphs to the body or brain images I am now accustomed to seeing. I order a lot of MRIs – I think judiciously, but often – given the patients I tend to see (mostly those with neurofibromatosis or tuberous sclerosis complex). I am comfortable looking at the images, but also rely on radiologists for interpretation, as I am aware of my limited interpretive skills and of the pitfalls in the technology. I also appreciate the ability to call up reports and images in the clinic room, often walking my patients through the results. I recognize the limits of this example in illuminating the clinical application of genomics. MRIs look a lot like the body parts I learned about in anatomy, whereas I was not taught in medical school to relate a list of genetic variants to risk of disease. Yet I think the example does serve well to illustrate four principles that do apply to genomic medicine: (1) the value of a basic science background but the ability to use a new technology without deep understanding of the underlying science; (2) the ability to gain competency in the use of a new technology in the context of clinical practice; (3) the need to recognize one's limitations and rely on experienced colleagues; (4) the value of point of care information systems. It has been more than a century since Abraham Flexner issued a report that advanced American medical education from trade school status to professional training grounded in science. The medical education system has remained true to these values, but has been strained by a volume of scientific knowledge and technological advancement that would have been impossible to conceptualize in Flexner's time. In 2009 the Howard Hughes Medical Institute and the Association of American Medical Colleges issued a report “Scientific Foundation for Future Physicians (Howard Hughes Medical Institute/Association of American Medical Colleges 2009),” intended to highlight the basic science competences that should be expected for students matriculating into or graduating from medical school. The driving force was a perception expressed by some basic science faculty that science education in medical school was being diluted by pressure to make basic science clinically relevant. I was involved in drafting the competences, and as the one geneticist on the committee can be blamed for the any deficiencies in genetics and genomics in the document. One obvious gap is the lack of mention of genome sequencing, which began to permeate clinical medicine within a year of when the document was released. That said, all disciplines received equally brief, high level mention, by intention, as the competences were intended to spark curricular innovation by medical school faculty. I think that the days are past when some medical schools taught little or no genetics in their basic science curriculum. At least this is not the major concern raised at the annual meeting of