With the sequencing of the human genome and significant advances in biotechnology over the past few years, the complexity and breadth of medical genetics are growing rapidly. Surprisingly, while genetic screening, diagnosis and treatment are becoming integrated into all areas of medicine, there has not been an equivalent rise in the number of physicians choosing to practice the specialty of medical genetics. There have been only 1,326 new physician geneticists to receive board certification between 1982 and 2009, representing less than 0.3 percent of the physicians in the United States. The number of physicians pursuing this field has remained flat over the past 15 years [12
]. Further limiting access to genetics consultations, physician geneticists traditionally have devoted only 50 percent of their time to direct patient care and practice trends favor specialization in rare diseases as opposed to a general genetics practice [13
]. As a result the number of genetics professionals certified by the American Board of Medical Genetics cannot meet the growing demand for genetics services [14
Recognizing the emerging importance of genetics in medicine, the Association of American Medical Colleges issued a report in 2004 entitled “Contemporary Issues in Medicine: Genetics Education” championing the importance of genetics education and outlining core competencies in genetics that all medical students should attain by the end of their training [15
]. Previous studies evaluating physician knowledge of human genetics found that both formal course work in genetics and more recent year of graduation from medical school were significantly associated with mean total knowledge scores [16
]. Evidence for a direct effect of such courses on knowledge comes from a study in which time devoted to teaching genetics to medical students was a predictor of the students’ ability to correctly answer genetics questions on the National Board of Medical Examiners Examination [17
At Weill Cornell Medical College there is a formal course in human genetics during the first year of medical school. During this course students receive one lecture on hereditary cancer genetics, which includes information on Lynch syndrome. However, based on the results of this questionnaire, it appears that much of the memorable exposure emerges during the second year as students learn pathophysiology and throughout the clinical clerkships in the third and fourth years. Our questionnaire suggests that exposure to Lynch syndrome increases with each year of medical school. Furthermore, knowledge regarding the inheritance patterns, genetic screening, criteria for recommending genetic screening and recommendations for colon and endometrial screening also each increase incrementally as students advance through medical school. Interestingly, all fourth year students surveyed reported having learned about the syndrome despite the minority having participating in the care of a patient with this disease. This likely reflects emphasis on hereditary cancer syndromes among medical instructors and increased awareness and discussion of this topic on the hospital wards. However, the acquisition of knowledge may also be affected by student preparation for the United States Medical Licensing Examination (USMLE). Students at Weill Cornell Medical College typically take step one of the exam immediately following the second year of medical school and step two during the fourth year.
It is concerning, however, that significantly more students were aware of recommendations for colon cancer screening than endometrial cancer screening (32% versus 17%, p
= 0.01). Studies of the natural history of Lynch syndrome indicate that affected women are more likely to present with endometrial cancer than colon cancer [1
]. While there are no prospective data proving the efficacy of endometrial cancer screening in this high-risk population, the endometrium is easily accessible and can be sampled using simple office techniques. In addition, prophylactic hysterectomy and bilateral salpingo-oophorectomy are reasonable risk reducing interventions for the prevention of both uterine and ovarian cancer [18
]. Our findings suggest that increased emphasis must be placed on teaching the gynecologic manifestations of Lynch Syndrome in order to avoid the misconception that it is simply a colon cancer syndrome.
The rapid growth of the biology, clinical implications and patient interest in medical genetics has been particularly notable in the field of hereditary cancer genetics. Many patients are learning from the media, pharmaceutical companies and commercial DNA laboratories about hereditary cancer syndromes. Patients look to their physicians for answers regarding cancer risk, screening and surveillance. When confronted with any patient with a complex family cancer pedigree, a physician must be aware of the basic clinicopathologic features of Lynch syndrome in order to appropriately refer patients for genetic testing and counseling and answer complex patient questions. This identification is crucial in patients affected with Lynch syndrome as diagnosis allows for patients to initiate aggressive cancer screening [4
Our questionnaire reveals that medical students at a single accredited United States medical school are learning about Lynch syndrome. Knowledge seems to come from both formal coursework during the first year and then informal exposure during the second through fourth years. The acquisition of knowledge appears not to be related to the gender, race or career aspirations of the medical student, suggesting that this topic emerges routinely during the course of medical education. However, this study was not adequately powered to determine the student characteristics associated with Lynch syndrome knowledge. While the response rate to the questionnaire tool was only 50%, there was no statistically significant difference between the gender, race and career aspirations of the 201 students included in the sample and the entire student body. These results are promising given the importance of physician knowledge for the ability to diagnose Lynch syndrome and a current climate of increased patient awareness, fear and interest in learning about genetic risk for the development of hereditary cancers. Increased emphasis, however, must be given to the gynecologic manifestations of Lynch syndrome and risk-reducing options for gynecologic cancer prevention.