View Only- Genomic Diagnosis for Children with Developmental Delay/Intellectual Disability-Genomic Diagnosis for Children with Developmental Delay/Intellectual Disability

Video Transcription

Video Summary

The video transcript is a recording of a conference discussing genomic diagnosis for children with developmental delay and intellectual disability. The conference is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Injunuity Clinical Decision Support Platform. The presenters include Kevin Bowling, a senior scientist at Hudson Alpha Institute for Biotechnology, Dr. Martina Bebin, a pediatric neurologist associated with the University of Alabama at Birmingham and North Alabama children's specialist, and Whitley Kelly, a genetic counselor from Hudson Alpha Institute for Biotechnology. The conference covers various topics including the clinical utility of exome genome sequencing testing, clinical indications for exome genome sequencing, the assessment of variant pathogenicity, and the importance of pretest counseling and consent. The presenters discuss the ongoing clinical sequencing project at Hudson Alpha, which aims to identify the genetic causes of developmental delay and intellectual disability in children. They share case studies and explain how genomic testing has led to diagnoses and treatment plans for certain patients. The conference also explores the implications of reporting secondary and incidental findings to parents of children with developmental delay and intellectual disability. The presenters highlight the challenges of variant interpretation and discuss their approach to reanalyzing negative exomes and genomes. They conclude the conference by answering questions from the audience.

Asset Subtitle

Hosted by HudsonAlpha Institute for Biotechnology

Keywords

genomic diagnosis

developmental delay

intellectual disability

exome genome sequencing

clinical utility

variant pathogenicity

pretest counseling

clinical sequencing project

secondary and incidental findings