Journal of Genetics and Genomes

To fulfil the growing demand for genomic sequencing (GS) across medicine, alternative forms of genetic counselling are required. This demand is growing as a result of the severe lack of experts who can conduct genomic counselling, a procedure that includes counselling for the many hazards that GS can uncover. There are roughly 5,500 genetic counsellors in Canada and the United States to service a population of almost 400 million people, or 1.5 professionals per 100,000 people. It is anticipated that this workforce will need to double in order to fulfil the rising demand for genetic counselling.

Genetic testing is widely used in medicine and is frequently requested or ordered by patients, non-genetics subspecialists, and primary care physicians. Other research has demonstrated that ordering genetic testing is frequently uncomfortable for clinicians. A consistent training programme for teaching resident physicians about genetic testing does not yet exist, despite efforts to teach these ideas through continuing medical education. Methods: From September to October 2020, we used email to find every paediatrics resident at our facility (N=102). Residents were invited to participate in a Qualtrics web survey that asked about their perceived level of awareness about the fundamental ideas behind genetic testing and their reported level of comfort discussing these ideas with their family. The percentage of respondents who said they were unprepared ranged from 28% (basic genetics principles) to 80%. The majority of paediatrics residents concurred that they would benefit from a course that covered the fundamentals of genetic testing.