Genetic Counselor Utilization Across Non-Genetics Departments for Neurodevelopmental Disorders

Abstract IMPORTANCE Most United States children with neurodevelopmental disorders have not received genetic testing aligned with current guidelines. Integration of genetic counselors into non-genetics departments is a potential strategy to improve uptake, but prevalence and details of integrated care models are unknown. OBJECTIVE To characterize availability, utilization, and perceived need for genetic counselors across non-genetics departments caring for patients with neurodevelopmental disorders DESIGN Cross-sectional observational department-level survey SETTING Child neurology, adult neurology, developmental pediatrics, child psychiatry, and adult psychiatry departments at Intellectual and Developmental Disabilities Research Centers PARTICIPANTS The survey was distributed to 67 departments across 15 institutions. The departmental response rate was 52% (35/67), with at least one response from 87% (13/15) of institutions. EXPOSURE Presence/absence of dedicated genetic counselor(s), where “dedicated” was defined as hired by the department MAIN OUTCOME(S) AND MEASURE(S) This was a descriptive study only, with no comparative statistical analyses due to the exploratory nature. RESULTS One third of departments (34%; 12/35) reported having dedicated clinical genetic counselors. Prevalence was highest in child neurology (67%; 8/12), followed by adult neurology (40%; 2/5) and developmental pediatrics (22%; 2/9), with none in child psychiatry (0/7) or adult psychiatry (0/2). In almost all departments with genetic counselors (92%; 11/12), they directly billed for their services, which universally included pre-test counseling/consent and post-test counseling. In departments without genetic counselors, only 39% (9/23) reported providers ordered their own genetic testing. Among all departments, over half (57%) were interested in adding/increasing genetic counseling support, while 26% were unsure and 17% uninterested. Insufficient funding was the most cited barrier; only one department reported insufficient need. CONCLUSIONS AND RELEVANCE Though currently implemented in only one third of departments, our findings suggest those with dedicated genetic counselors directly pursue genetic testing (without referring to genetics) more than those without genetic counselors. Interest in increasing or adding genetic counseling support was high, and though funding was a reported barrier, feasible funding models were described. In the context of limited medical geneticists and expanding precision therapies, alternate delivery models for neurodevelopmental genetic testing including genetic counselor integration in non-genetics departments may help to scale and sustain uptake. Key Points QUESTION What is the availability, utilization, and perceived need for genetic counselors in non-genetics departments caring for individuals with neurodevelopmental disorders? FINDINGS In this cross-sectional study of 35 neurology, psychiatry, and developmental pediatrics departments, one third reported having dedicated genetic counselors for clinical care. Most were interested in increasing or adding genetic counselor support; insufficient funding was the most reported barrier and only one department reported insufficient need. MEANING Many non-genetics departments caring for individuals with neurodevelopmental disorders continue to rely on the traditional referral model to genetics departments for testing/counseling despite substantial interest and support for integrating genetic counselors.