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The existing diagnostic frameworks used in psychiatry have certain drawbacks when it comes to capturing the diversity and overlap between different disorders. This makes it difficult to understand the underlying mechanisms behind these disorders. However, recent genetic research has uncovered shared genetic patterns among psychiatric disorders, implying the presence of common genetic foundations.
Researchers from the Department of Human Genetics and the Department of Psychiatry joined forces to explore the neurobiological basis across psychiatric disorders. In their most recent study published on American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, genotyping and phenotyping data from an in-house patient cohort were combined with large-scale genome-wide association results, with the aim to examine the genetic risk of major psychiatric disorders under both disorder-specific and transdiagnostic frameworks.
Four domains of functioning were identified from this psychiatric sample, capturing distinct aspects relevant for psychiatry but cut across disorder boundaries. Using a single value to summarize the genetic risk loadings for major psychiatric disorders across the genome, the genetic risk for depression exclusively manifested in the functional aspect involving negative thinking and emotions, but not in any other aspects. In contrast, when studied in a diagnosis-specific fashion, this genetic risk was unselectively associated with a range of psychiatric diagnoses, including substance use disorder, ADHD, anxiety disorders, and mood disorders.
This study provides valuable evidence supporting the dimensional perspective in psychiatric research and underscores the need to reevaluate the existing diagnostic frameworks. By unraveling the shared genetic architecture of psychiatric disorders and highlighting their functional aspects, the findings shed light on the misalignment between current nosology and underlying genetic etiology.
The research team plans to build upon these findings by further investigating transdiagnostic mechanisms and expanding the understanding of the genetic underpinnings of psychiatric disorders. Their work contributes to the ongoing effort to bridge the gap between genetics and clinical presentation, ultimately leading to improved diagnostics, personalized treatments, and better outcomes for patients.
Read the full study here
Shi, Y., Sprooten, E., Mulders, P., Vrijsen, J., Bralten, J., Demontis, D., ... & Mota, N. R. (2022). Multiâpolygenic scores in psychiatry: From disorder specific to transdiagnostic perspectives. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. https://doi.org/10.1002/ajmg.b.32951
