Exome and Genome Testing Recommendations for Children

This guide outlines the recommendations for exome and genome testing in children, particularly for those exhibiting developmental delays, intellectual disabilities, congenital anomalies, or unexplained epilepsy. It references the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors, both of which endorse these tests as first-line options for specific patient populations. The document emphasizes that 80% of rare diseases have a genetic basis, making these tests crucial for identifying underlying causes. It also provides a checklist to assist healthcare providers and parents in determining the appropriateness of testing based on various symptoms, such as developmental milestone delays, congenital defects, and other significant health concerns. The guide aims to facilitate informed discussions between parents and healthcare providers regarding the potential benefits of genetic testing for children with complex medical needs.