1. Demonstrate the utility of genetic testing in adults with neurodevelopmental disabilities (NDD)
2. Describe changes in clinical management following genetic diagnoses

Genetic testing is now recommended as standard of care in all patients with intellectual disability (ID) and Autism Spectrum Disorder (ASD). Identifying a genetic etiology may advise management recommendations, inform prognosis, provide knowledge for reproductive decision making, and connect families with condition-specific supports and resources.

A retrospective chart review of the 90 total patients seen in an adult Neurodevelopmental Disabilities (NDD) clinic from September 2020 through January 2022 was completed. 29 patients underwent genetic testing and were included in our analysis.

In our cohort of adults with NDD, 11/29 (38%) of patients who pursued genetic testing received a new genetic diagnosis. Genetic testing results influenced the clinical plan of care in 100% of those patients. The most common recommendations were referrals for imaging and to additional specialists for screening or management of features related to their genetic diagnosis.  We recommended renal imaging in 3/11 (27%), brain MRI in 1/11 (9%) and cardiology referral in 5/11 (45%). Family members at risk for inheriting or carrying the condition spoke with a genetic counselor about recurrence risk, genetic testing for themselves, and family planning. 

Management changed in all patients in an adult NDD clinic with diagnostic genetic testing, 38% of all individuals tested. This further highlights the importance of genetic testing in this population to provide the most comprehensive lifelong medical care.