Genetic Counselor Utilization Across Non-Genetics Departments for Neurodevelopmental Disorders

Area of Science:

• Medical Genetics
• Neurodevelopmental Disorders
• Healthcare Delivery Models

Background:

• Most US children with neurodevelopmental disorders lack guideline-recommended genetic testing.
• Integrating genetic counselors into non-genetics departments is a potential strategy to increase testing rates.
• The current prevalence and operational details of these integrated models are not well understood.

Purpose of the Study:

• To assess the availability and utilization of genetic counselors in non-genetics departments.
• To understand the perceived need for genetic counseling services for patients with neurodevelopmental disorders.
• To identify barriers and facilitators to integrating genetic counselors.

Main Methods:

• A cross-sectional, observational survey of 67 departments across 15 institutions.
• Survey targeted child neurology, adult neurology, developmental pediatrics, and psychiatry departments.
• Data collected on the presence of dedicated genetic counselors and their service utilization.

Main Results:

• Only 34% of surveyed departments had dedicated genetic counselors, most commonly in child neurology.
• Departments with genetic counselors showed higher rates of direct genetic testing ordering.
• Over half of departments expressed interest in expanding genetic counseling support, citing funding as a primary barrier.

Conclusions:

• Dedicated genetic counselors in non-genetics departments facilitate direct genetic testing, bypassing traditional referrals.
• High interest exists in expanding genetic counseling services, despite funding challenges.
• Integrating genetic counselors offers a scalable model to improve genetic testing uptake for neurodevelopmental disorders amidst a shortage of medical geneticists.