Integrating the detailed study of genetics in medical school curricula to enable responsible interpretation of individualized genomic tests will lead to more effective health care through targeted prevention, diagnosis, and treatment at a decreased cost.
The complete sequencing of the human genome in 2003 and the introduction of genome-wide association studies (GWAS) revolutionized the role of genetics and genomics in the diagnosis and treatment of disease. In recent years, several companies have begun offering direct-to-consumer whole-genome tests, providing an individualized report of predicted health risks, traits, and disorders using a saliva sample. The problem remains, however, in translating these discoveries into benefits in health care. The private companies that provide genetic testing do not readily and comprehensibly explain the results to consumers, and genetic counseling remains rare and expensive. As a new phenomenon, information online about genome testing is limited and usually inaccurate. Thus, consumers often turn to their primary care physicians for guidance.
Yet evidence indicates that these physicians are ill-equipped to deal with issues of genetics and genomics due to a lack of preparation in medical school. In a study requiring physicians to interpret the results of a single-gene test for colorectal cancer susceptibility, 33.3 percent of physicians incorrectly interpreted the results.
Less than half of medical schools surveyed reported offering a stand-alone course in genetics, while those that do frequently address irrelevant and rare genetic disorders that are of limited relevance to most primary health care providers. This lack of training risks incorrect and possibly dangerous misinterpretation of the tests by physicians that could cause patients to erroneously modify lifestyles or undertake unnecessary procedures or expenses.
Correctly interpreting these tests benefits patients receiving individualized treatment, as physicians can more proactively prevent conditions and provide more effective care. This leads to positive externalities benefiting insurers, who will pay less by avoiding costly and ineffective procedures, as well as taxpayers, with significantly reduced costs of health care.
The solution to harnessing the potential benefits of whole-genome tests lies in equipping physicians with the necessary experience to responsibly interpret results, identify appropriate candidates for genome testing, and be informed of the available resources. This can be done by reforming medical school education, through an organization sponsored by the American Medical School Association (AMSA), to integrate considerably more relevant genetics in existing curricula. This should begin with replacing irrelevant and rare genetic diseases discussed in courses with prominent genetic conditions the physicians are more likely to see. Including problem-based learning is particularly suitable for medical genetics and will provide students with experience in advising patients about the information that can be extracted from genome tests and using this information to provide more personalized disease prevention, diagnosis, and treatment. This should also transition into more team-based learning approaches outside of courses, such as frequent patient conferences and workshops on ethics and genetic counseling, as well as lectures on the newest discoveries in the field, that are provided by the institution. This would keep both students and physicians up to date with the rapid developments in genetics and medicine.
Medical school curricula should be constantly adapted to the dynamic new discoveries in science. Introducing genetic literacy will be one of the most important changes in harnessing the potential innovations to come in the field of genetics and genomics.