2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Cerebral Palsy: Genomic Advances Aid in Diagnosis and Management

Video Transcription

Video Summary

In this video, Francisco Milán Zamora, Associate Director of the Neurogenetics Program at GeneDx, discusses the role of genomic advances in the diagnosis and management of cerebral palsy (CP). CP is a group of permanent movement and posture disorders attributed to non-progressive disturbances in the developing brain. While the specific causes of CP have been attributed to factors such as prematurity and birth asphyxia, emerging evidence suggests that a significant proportion of CP cases may have a genetic basis. Recent studies using genetic testing techniques, including chromosomal microarray and exome sequencing, have found diagnostic variants in 10 to 31% of CP patients. Through a study with collaborators at Geisinger, the largest cohort of CP patients who underwent exome sequencing was identified, with a molecular diagnostic yield of 30.1%. Genetic testing can provide important information for families, including recurrence risk assessment, prognostic information, and guidance for clinical management. The video includes case studies and discusses the utility of trio analysis in improving the diagnostic yield of genetic testing. The video ends with acknowledgements and contact information for further inquiries.

Asset Subtitle

GeneDx

Keywords

cerebral palsy

genomic advances

genetic testing techniques

diagnostic variants

clinical management

trio analysis