Selected Publications

An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders

Wendy K. Chung, Stephen M. Kanne, Zhanzhi Hu

Int. J. Neonatal Screen. 2024, 10(2), 33; https://doi.org/10.3390/ijns10020033

Submission received: 27 February 2024 / Revised: 27 March 2024 / Accepted: 11 April 2024 / Published: 16 April 2024

Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, we discuss the initial experience from the GUARDIAN study and the systemic gaps in clinical services that were identified in the early stages of the pilot study.

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

Sarah E. Fitzpatrick, Irene Antony,   Erika L. Nurmi, MD,  ∙ Thomas V. Fernandez, MD1 ∙ Wendy K. Chung, MD, PhD2,3 ∙ Catherine A. Brownstein, ∙ Joseph Gonzalez-Heydrich,  Raquel E. Gur, Amanda R. Merner, Gabriel Lázaro-Muñoz,   Matthew W. State, Kevin M. Simon,  Ellen J. Hoffman. 

 JAACAP Open, In Press (August 8, 2024); DOI: 10.1016/j.jaacop.2024.06.002

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.