Identifying Genetic Causes: When to Test and Benefits

Dr. Scott will describe when genetic testing should be obtained and when testing is unlikely to provide additional insight into a child’s medical problems. He will briefly outline the optimal genetic testing strategy for individuals with behavioral and neurodevelopmental disorders in the context of common genetic disorders like Down syndrome, 22q11.2 deletion syndrome and fragile X syndrome. Various examples will be provided of how physicians and families have worked together to use “negative” test results to identify new genes responsible for these disorders. In doing so, he will explain how modern gene discover efforts take advantage of large clinical databases, international collaborative networks, and animal models. Dr. Scott will also describe how these discoveries have not only helped the families that have participated in these studies but have the potential to help other families affected by these disorders.

Please note: There is a separate registration fee for this workshop.