We developed a series of online video podcasts to be used as a toolkit to promote genetic and genomic competencies for non-genetics residents. While a clear need for teaching of Genetics and Genomics key competencies has previously been demonstrated, prior to our study, evidence regarding the effectiveness of existing online modules as a tool for teaching precision medicine competencies was limited.
Our study identified a marked discordance between residents' reported exposure to patients with genetic diseases and their level of confidence in basic genetic competencies, in keeping with the previously identified need to prepare physicians-in-training for genomics-based healthcare. While 59% reported seeing patients with genetic diseases "Sometimes, Often, or Very Often" in their practice, prior to our modules, 59% reported they were "Not at all confident or Not very confident" in discussing specific genetic concerns with their patients. Similarly, we noted that exposure to patients with genetic conditions was reported to be higher than exposure to genetic test results; the majority of residents (68%) reported that they "Rarely or Never" see the results of genetic testing. We speculate that this may reflect local reporting practices, as results of genetic testing in our centre are not available on the electronic medical record and are typically sent to the ordering staff physician.
There was a trend towards improvement in genetics and genomics confidence and knowledge with the completion of the modules, with some areas demonstrating statistically significant improvements. Prior to participating in the study, 75% reported that they were "Not at all confident or Not very confident" in interpreting the results of a microarray. Participants’ confidence in interpreting a microarray demonstrated a statistically significant improvement (z=3.33, p=0.00086) following completion of our toolkit modules. Our study showed significant improvement in residents’ knowledge of basic genetic concepts between Module 1 pre- and post-test responses. Although results for the other modules did not reach statistical significance, the scores all trended up between the pre- and post-test modules. Similarly, while there was a trend to improvement, there was no statistically significant increase in confidence in discussing specific genetic concerns following completion of the podcasts. We speculate that this may be in part to due the wide range of genetic disorders seen by participants, not explicitly covered by the four modules.
One of the strengths of our study was the wide range of participants who enrolled. Residents participated from multiple programs, including dermatology, family medicine, internal medicine, neonatology, neurology, pediatrics, pediatric nephrology, pediatric neurology, and other (22 remained unspecified). We had participation from residents in their first year of training, to their 6th year into residency. Comparison by specialty demonstrated that residents in pediatrics and pediatric neurology are most likely to care for patients with genetic disorders and see the results of genetic testing, while patients in family medicine and dermatology report doing so less often.
Another highlight of our study includes some of the important gaps in participants’ knowledge of core genetic concepts that were identified. For example, in the Module 1 pre-test, 58% of residents failed to identify that mitochondrial diseases can also be inherited in autosomal and X-linked patterns, and 12% incorrectly identified the correct number of autosomes and sex chromosomes in a normal human karyotype. We also noted several gaps in knowledge in the pre-test responses in Modules 2-4. For example, 21% of residents incorrectly identified the main type of genomic variation detected by a microarray. These knowledge gaps have the potential to seriously impact clinical care for patients with suspected genetic disorders, and again highlight the importance of ongoing genetics and genomics education at the undergraduate medical education and post-graduate medical education level.
Our study had a number of limitations. Since the responses were anonymous, the pre- and post- questionnaire for each participant could not be matched to determine if an individual participant improved their genetic and genomic competencies. Similarly, it could not determine how many modules each participant completed. This impacted our ability to detect and analyze differences in outcomes between pre- and post-module tests. We also had a small sample size, particularly for Modules 2-4. We speculate that this is because most residents were asked to complete the modules on their own time, rather than being provided dedicated time (for example, at an academic half-day). We suggest that integration at the post-graduate medical education level, including protected teaching time, is crucial to promoting the development of competencies in precision medicine.
We identified several future areas of development. While the toolkit included clinical case modules in a variety of disciplines (cancer genetics, prenatal genetics, cardiogenetics), these were not evaluated in our study. Addressing barriers to completion of the online modules will be necessary to determine if they are effective in promoting additional genetics and genomics competencies among residents. At our centre, physicians in many non-genetic specialties frequently order genetic tests for their patients and deliver the results. Without effective and innovate educational solutions, the genetics knowledge gap among residents will remain a barrier to successful implementation of precision medicine in healthcare. Finally, while these modules were developed prior to the COVID-19 pandemic, there has been an overwhelming adoption of e-learning techniques during the pandemic, and these modules are easily adapted for use in this context.
In conclusion, podcast modules are an innovative method to promote genetic and genomic competencies to postgraduate medical trainees. Developing confidence with core genetic and genomic competencies is essential for effectively implementing precision medicine into patient care. Teaching these competencies during post-graduate medical training remains a challenge due to competing curriculum priorities as well as limited time. Self-directed learning through online modules and podcasts offers an opportunity to overcome some of these challenges.