Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic

Objective

There has been remarkable progress in recent years in understanding the genetic underpinnings of child psychiatric disorders. Concurrently, genetic testing is becoming increasingly available in the clinic. However, many clinicians report a lack of familiarity with genetics and how genetic testing might inform a clinical evaluation. This review aims to introduce clinicians to cutting-edge research in child psychiatric genetics and discuss the emerging role of genetic tests in clinical practice.

Method

This review highlights major findings presented at the Research Institute of the 69th American Academy of Child and Adolescent Psychiatry Annual Meeting.

Results

An overview of critical genetic concepts for clinicians is provided along with a discussion of recent advances in child psychiatric genetics, focusing on autism spectrum disorder, where whole exome sequencing has led to the identification of approximately 250 high-confidence risk genes. The review describes how similar approaches to gene discovery are beginning to shed light on the genetic architecture of early-onset psychosis, Tourette’s disorder, obsessive-compulsive disorder, and other disorders. In addition, the practical limitations of pharmacogenetic testing, ethical considerations, and barriers to clinical genetic testing are discussed. Finally, the promise of genetic research for advancing understanding of the pathophysiology of these disorders is illustrated.

Conclusion

This review aims to improve clinicians’ knowledge of how genetic findings might inform clinical evaluation and management of child psychiatric disorders and the potential for groundbreaking research in the field to shape the development of new treatments.

Plain language summary

This review highlights essential genetic concepts and past decade progress in gene discovery, with a particular focus on autism spectrum disorders. The practical applications of genetic testing for clinicians are also explored, including the limitations of pharmacogenetic testing, as well as ethical considerations and barriers to implementing clinical genetic testing. Finally, the review highlights cutting-edge genetics research underway to develop new treatments for child psychiatric disorders.

Diversity & Inclusion Statement

One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented racial and/or ethnic groups in science. We actively worked to promote sex and gender balance in our author group.