Differentiated approach and testing for rare genetic diseases in childhood and adolescence

Abstract

Genetic diagnostics has now reached virtually all fields of pediatrics. More and more frequently, human genetics are an important tool complementary to clinical diagnostics and increasingly play a central role in the assessment of disease progression and the decision on individual treatment. Genetic diagnostics are used for the early detection and specification of diseases and also enable, for example, the identification of disease-causing changes by means of reverse phenotyping (diagnosis/correction of a previously suspected diagnosis by genetic diagnostics). Genetic diagnostics are still widely used relatively cautiously but an earlier use often seems to be quite reasonable. A differentiated approach in a close interdisciplinary consultation is advantageous. The methods used in genetic diagnostics have developed rapidly in recent years, leading to improved diagnostic rates but also raising new questions and challenges. The dynamics of the field and a multitude of sometimes confusing terminology make genetics seem like a black box to many colleagues. What is meant by an exome or a panel? As a “normal” pediatrician am I allowed to order genetic diagnostics at all? Do I have to care about any disadvantages and how do I interpret the findings later? We have tried to work through these and other aspects and present them in an understandable way in this article. Close interdisciplinary cooperation between the pediatrician in charge, the specialist in human genetics and the laboratory is essential to select the most appropriate method for the clinical problem at hand and to ensure the best possible care for the patient.