View Only- Newborn Sequencing Cases from the NSIGHT BabySeq Project-Newborn Sequencing Cases from the NSIGHT BabySeq Project

Video Transcription

Video Summary

The video is a recording of a presentation about the ACMG Genomics Case Conference. The conference is a monthly event that rotates among laboratories and clinicians involved in genome-scale testing. The purpose of the conference is to present and discuss case materials that have been consented for with patients or guardians. In this particular presentation, Dr. Ingrid Holm and Dr. Ozge Bershoi discuss two cases from the BabySeq project, which is part of the N-SITE Consortium. The BabySeq project aims to determine if parents who receive genomic results struggle with the information and to evaluate the impact of genome sequencing on the care of healthy and sick children. The first case presented involves a newborn with an anteriorly displaced anus, and the second case involves a newborn with complex congenital heart disease. In each case, the doctors discuss the genetic findings and the implications for the patients and their families. The presentation includes details about the analysis and filtering of genomic variants, as well as the genetic counseling and follow-up steps taken. The video ends with a Q&A session where the panel answers questions from the audience.

Asset Subtitle

Hosted by Memorial Sloan Kettering Cancer Center and Harvard Medical School

Keywords

ACMG Genomics Case Conference

monthly event

genome-scale testing

BabySeq project

genomic results

genetic findings

implications

genetic counseling

Q&A session