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Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.

Epilepsy is a common neurological disorder characterized by recurrent and unprovoked seizures. Genetic factors are thought to play a major role, either as multiple risk factors in common epilepsies or as single gene variants in rare monogenic epilepsies. The latter are more often found in individuals with early seizure onset and comorbidities. This review finds that, as technology has accelerated our knowledge on monogenic epilepsies, we slowly move from diagnostics to the clinical application of a genetic diagnosis to optimize treatment. Thus, sometimes a genetic diagnosis provides a targeted treatment strategy.