Gaps in Neurogenetics Education During Child Neurology Residency: Results of a National Survey

• Published in: Journal of child neurology p. 8830738221106896
• Main Authors: Sen, Kuntal, DiSabella, Marc T, Harmon, Jennifer, Strelzik, Jeffrey A, Gropman, Andrea L
• Format: Journal Article
• Language: English
• Published: United States 01.08.2022
• Subjects: inborn errors of metabolism; genetics; ethics; next-generation sequencing; mitochondrial disorder
• ISSN: 1708-8283
• DOI: 10.1177/08830738221106896

The practice of child neurology has changed significantly in the past two decades as we have integrated genetic testing into our standard of care to achieve precise diagnoses and to guide management of many childhood neurological conditions. Despite this paradigm shift, there appears to be a gap in both clinical exposure to neurogenetic disorders and education provided to residents in ordering and interpreting genetic testing. We therefore conducted a national survey for child neurology trainees in all programs across the United States to delineate their perception of the adequacy of current training and didactics in genetic/neurogenetic disorders. The results revealed knowledge gaps related to ordering and interpreting genetic testing, managing acute metabolic emergencies, and identifying resources for referral of patients to clinical trials. Responders considered their current curriculum in neurogenetics to be insufficient and voted favorably for an educational platform using recorded lectures and interactive sessions.