By Lori Solomon, Editor, Diagnostic Testing & Emerging Technologies
Contrary to wide-held belief, there is nothing exceptional about genomic medicine that would preclude physicians from readily incorporating genetic assessment and testing into routine clinical care, according to a focus piece published May 13 in Science Translational Medicine.
Workforce dynamics prohibit keeping genomic medicine entirely separate from other medical disciplines. With fewer than 2,000 board-certified medical geneticists, there are simply not enough experts to keep up with demand created by the greater prominence of genomics in clinical practice. Given that physicians across primary care and specialty areas—without specialized genetics training—will need to order genomic testing and use the results in the care of their patients, professional organizations and government agencies are focusing on genomics education and preparedness.
Although physicians have self-reported a lack of confidence in their ability to apply genomic test results to patient care, the authors argue physician preparedness for genomic medicine is not exceptional when compared to other complex medical innovations such as imaging, microscopic pathology assessment, or targeted therapies. To illustrate this point, the authors draw a parallel between genomic testing and the use of CT scans. CT scans carry risks and costs and may produce findings incidental to the test’s original indication. However, they say, physicians routinely order CT studies for a range of conditions, and apply results to treatment decisions with guidance from radiologist colleagues.
"On what grounds would we hold genomic technology to different standards?" asks lead author Jason Vassy, M.D., from Brigham and Women’s Hospital in Boston. "Similar to the radiologist, the genomics-laboratory director holds primary responsibility for interpreting sequencing results using available data and generating reports that physicians can understand. The receiving physicians may choose to communicate back with the specialist for further guidance in medical decision-making."
The authors caution that physicians’ self-reports on a lack of preparedness for genomics may not correlate to actual skills and clinical behavior, as there are no universal definitions of preparedness. In an attempt to fill these perceived gaps, though, efforts are underway to tie genomics into core medical education competencies. The framework of medical entrustable professional activities (EPAs) is being applied to genomics.
The National Institutes of Health’s Inter-Society Coordinating Committee on Practitioner Education in Genomics has developed five genomics EPAs in the areas of family history, genomic testing, treatment based on genomic results, somatic genomics, and microbial genomics, each of which can be mapped to specific medical competencies. In partnership with more than 30 professional organizations, the committee addresses common educational needs while supporting individual professional societies and specialty boards in developing their own genomics EPAs, recognizing that preparedness for genomic medicine will be applied differently by different types of physicians.
"It is unknown whether the application of an EPA framework to genomic medicine will improve clinical practice, but defining genomic medicine competencies and EPAs is a first step toward evaluating the degree to which medical learners at all stages of training and practice are meeting them," writes Vassy. "The fundamental principles of medicine in genomics are the same as elsewhere in medicine."