Creating a blueprint for genomic medical training

Genomics education should be integrated into existing paradigms for teaching about health and disease, because the intersection of the patient-centered medical home and genomics requires primary care physicians and specialists with advanced genetics training as necessary links to effective care delivery.

Patients expect that primary care physicians will advise them on genomic topics such as pharmacogenetic testing prior to prescribing certain drugs or preconception screening, as well as the myriad of direct to consumer genomic tests purporting to provide enhanced disease risk prediction. However evidence suggests that most primary care providers are ill prepared to do so. The recent burst of discoveries coupled with the direct-to-consumer availability of genetic testing has widened the gap between patient expectations and physician knowledge.

The National Institutes of Health and the Health Resources and Services Administration hosted in June a meeting of primary care physician groups, including the American College of Physicians, to develop a concrete plan to teach genetic and genomic topics from medical school through recertification. Representatives from pediatrics, internal medicine, obstetrics and gynecology, genetics and preventive medicine considered how genomic advances are affecting their specialties and the U.S. health care system. Attendees recognized that all primary care specialties need to enhance genomics education and that shared approaches will be necessary to overcome structural and economic impediments.


One clear consensus emerging from the meeting was that genomic discoveries alter how physicians should think about the practice of medicine. Genomics education shouldn't be “added on” as a discrete entity to existing curricula but should be integrated into existing paradigms for teaching about health and disease.

Suggested concrete educational reforms reflect this philosophy. For example, attendees thought that medical school curriculum committees should have at least one member knowledgeable about clinical aspects of genomics to ensure that the subject is incorporated through all four years of medical training. But it was widely acknowledged that medical schools would resist this form of “genetic exceptionalism” in curriculum development.

However, two papers highlight the need to include genomics in clinical training. In the May 2007 issue of Academic Medicine, Thurston et al. reported on a survey demonstrating that only 47% of U.S. and Canadian medical schools incorporate genetics into third- and fourth-year teaching. The second, more recent paper by Greb et al. in the May 2009 issue of Genetics in Medicine suggests that third-year students are largely incapable of applying genomic knowledge learned in their first year of training to clinical encounters.

A key suggestion was that Residency Review Committee criteria should be reviewed for genomic content, not to add new competencies but to map genomics onto existing competencies. For practicing clinicians, a pragmatic suggestion was to include genomics as part of the checklist for CME accreditation. This simple step would at a minimum ensure that authors consider whether or not there is a genomic dimension to their topic, and at best result in including genomics content that might have been otherwise ignored. This approach would distribute genomic education across the entire CME apparatus while ensuring that content would be updated automatically as new programs are introduced. The American Academy of Family Physicians is currently implementing such a program.

Attendees also considered refreshing and redeploying the Genetics in Primary Care pilot initiative, which used a case-based, train-the-trainer model of interdisciplinary health professional education. (Information on the pilot is available online.) They also agreed on the need to ramp up the number of individuals with advanced genomics training in the U.S. health care system, including genetic counselors and medical geneticists. Discussions also brainstormed rapidly training physicians with advanced genomic skills through a one-year fellowship program that would provide a certificate of added qualification

Perhaps the most remarkable discussions involved the intersection of the patient-centered medical home and genomics. The group came to consensus that a successful medical home incorporating genomics requires a team-based approach. Nursing, midlevel providers, primary care specialists and specialists with advanced genetics training are all necessary links to effective care delivery.

But attendees also expressed frustration that the current fragmented system imperils patients during transitions of care, particularly in the preconception/perinatal period and later as special needs children move from pediatrics to adult care. There was a call for enhanced collaboration between physician organizations to eliminate dueling and specialty-specific guidelines that confuse primary care clinicians and their patients.

The June 5, 2009 issue of Science published an article relating a vision for the future of medical education produced by a panel of experts convened by the Association of American Medical Colleges and the Howard Hughes Medical Institute. “Scientific Foundations for Future Physicians” (available online) emphasizes the need to move toward an educational system that promotes key scientific principles rather than rote memorization in order to produce physicians who are facile, lifetime learners. The “Overarching Principles” section of the report relates the need for new physicians to understand the role genetics plays though the spectrum of health, disease and society. The outcomes of the meeting dovetail quite well with these principles.

The combined forces calling for an enhanced focus on genomics education for primary care professionals will lead to real gains in physician competency in the years to come.