Evidence Based Guidelines Webinar 201: Exome and Genome Sequencing for Pediatric Patients with Congenital Anomalies or Intellectual Disability - OnDemand-Evidence Based Guidelines Webinar 201

Video Transcription

Video Summary

The video discussed the ACMG Evidence-Based Guidelines for exome and genome sequencing in patients with congenital anomalies, developmental delay, and intellectual disability. The webinar highlighted the process of the systematic evidence review (SCR) and the development of evidence-based guidelines (EBG) based on the findings. The SCR involved a comprehensive evaluation of the literature to assess the clinical utility and diagnostic yield of exome and genome sequencing. The results showed that there were few harms associated with the use of these sequencing methods and they had significant impacts on clinical management, long-term surveillance, and family-focused outcomes. Based on the evidence, the guideline panel strongly recommended exome and genome sequencing as either a first or second tier test for patients with congenital anomalies and/or developmental delay and intellectual disability. The panel also discussed case examples where exome sequencing led to the diagnosis and appropriate management of patients with rare genetic disorders. The webinar acknowledged the importance of continued research and the involvement of various stakeholders, including payers, to further improve the guidelines and access to these sequencing methods.

Keywords

ACMG Evidence-Based Guidelines

exome sequencing

genome sequencing

congenital anomalies

developmental delay

intellectual disability

systematic evidence review

evidence-based guidelines

clinical utility