Precision medicine in pediatric neurology exemplified by the new treatment forms

Abstract

Background: In recent years the possibilities for molecular diagnostics and treatment of rare childhood diseases have greatly improved. The first gene-modifying drugs have now been approved, leading to a new era of precision treatment in pediatric neurology. Objective: This article describes the dynamic developments of precision medicine in pediatric neurology in the areas of prevention, diagnostics and targeted treatment. Discussion: The paradigm shift as a result of precision medicine is based on a treatment approach focused more strongly on the individual and the corresponding unique characteristics. Modern methods of genetic and molecular diagnostics are used to accurately describe and characterize affected children, complemented by a precise description of the clinical phenotype. Nevertheless, the success of the best individual treatment strategy derived from this information is often dependent on the time of diagnosis. Therefore, methods for disease prevention, particularly newborn screening programs, become increasingly more important to achieve the best possible success of novel therapies even before the onset of disease symptoms. In addition to a precise stratification of therapies, special attention should be paid in the future to the consideration of the individual perspective of patients and parents/guardians. Furthermore, a normative framework for a quality-ensured application of gene-modifying therapies in the German healthcare system must be created.