Genetic understanding of psychiatric disorders has greatly advanced in the last decade, with high impact variations, often de novo, being noted to occur more frequently in pediatric neuropsychiatric disorders. This new understanding has led to calls for genetic information to be taken to the clinic. Genetic testing is often used to aid diagnosis of rare disorders, and genetic information pertaining to common somatic disorders will soon be heading to the clinic. Yet performing such tests in psychiatric disorders is not currently feasible. While the new understanding of the common polygenetic component to psychiatric disorders should not be currently utilized in a clinic, there is an opening to develop our understanding of the needed practices using rare high impact variants in pediatric neuropsychiatric disorders. We are currently recruiting 50 families to take part into research based genetic testing in pediatric neuropsychiatric disorders, where we aim to see if such testing can be developed into the clinical setting. To ensure that relevant genetic findings are only returned when it is appropriate to do so, we have joined an EU funded network that seeks to develop standardized guidelines for psychiatric genetic testing and counselling across Europe. Even in the case of high impact variants, genetic mutations in psychiatric disorders face the problems of penetrance and pleiotropy. Meaning that any given mutation is not sufficient to lead to a diagnosis, and that it can lead to different diagnoses in different individuals. Furthermore, the underlying symptoms in these disorders can vary over time, but it is not possible to predict which children or what symptoms will improve. To study this aspect further we will collect additional levels of information both clinically and biologically. This data will consist of annual collections of quantitative behavior and symptom scores, alongside epigenome, transcriptome and metabolome data. This will allow us to link any high impact mutations to the underlying symptoms of these disorders, not just diagnoses, and identify potential modifying biological factors that contribute to variation over time in the disorders. The standardized production of genetic and biomarker information within the clinic is what is essential to finally deliver the tools to develop prediction methods for disorder progression and therefore design treatment strategies in a more personalized and targeted manner.
Genetic understanding of psychiatric disorders has greatly advanced in the last decade, leading to calls for this information to be taken to the clinic. We are performing genome analysis in patients with childhood neuropsychiatric disorders, where large impact de novo mutations are more common, in order to see if genetic testing is a useful tool for the clinic. Furthermore, the underlying symptoms in these disorders can vary over time, but it is not possible to predict which children or what symptoms will improve, meaning that treatment and rehabilitation are given on the current presentation of symptoms. Any single genetic variation is neither necessary nor sufficient in the etiology of these disorders and symptoms. Thus, we are also longitudinally collecting a multitude of different levels of biological data that can vary with time, in order to identify potential biomarkers that could be used to better predict disorder progression and outcome, so that treatment and rehabilitation can be targeted in a more precise way.
- 1184 Genetik, utvecklingsbiologi, fysiologi
- 3124 Neurologi och psykiatri
- 515 Psykologi