A National Survey on the Neurogenetics Workforce: Practice Models, Evolving Challenges, and Future Directions

Neurogeneticists are specialized providers who focus on diagnosing and managing genetic disorders affecting the nervous system. Training pathways for neurogeneticists vary, including dual residencies in neurology and genetics, one-year fellowships, or extensive clinical experience. This diversity reflects the expanding applications of neurogenomics across neurology. Our research aims to identify strategies used by such subspecialists to help neurologists more effectively incorporate genetic testing into practice, improving patient outcomes.

A survey was conducted among neurogeneticists across the United States to assess the practice parameters of neurogenetic clinics, assess program development, and highlight the educational requirements needed to manage these patient populations. The survey, approved by the Children's National Hospital Institutional Review Board, included 25 questions about demographics, practice settings, training, and education. Data were collected anonymously through REDCap, and participants were recruited via professional networks.

We received 30 responses, where 93.3% were from academic institutions and 86.2% engaged in research. Most order and interpret genetic testing and manage a range of phenotypes, including epilepsy, movement disorders, and neuromuscular diseases. Ninety percent of respondents use precision therapies, and 50% participate in clinical trials.

The survey underscores the demand for neurogenetics expertise in both diagnostic and therapeutic contexts. The study highlighted barriers such as limited staffing, training for a larger workforce capacity, and infrastructure challenges in integrating genetic testing into routine clinical practice. We summarize the factors that can promote the establishment and growth of neurogenetics programs. The integration of genetic counselors in clinics and genetics-focused education in neurology residencies are crucial for advancing equitable access to care.