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Twist Bioscience HQ
681 Gateway Blvd
South San Francisco, CA 94080
On Demand Webinar: Population-Based Genomic Newborn Screening: Results of BabyDetect Study
Presented by
Professor François Boemer
Head of the Newborn Screening Center and the Biochemical Genetics Laboratory, University Hospital of Liège, Belgium
Covered in this Webinar
How the BabyDetect pilot project in Belgium integrated NGS into newborn screening for 165 treatable disorders.
The challenges of interpreting genetic variants in a pre-symptomatic population.
How combining biochemical and genomic approaches can strengthen the future of newborn screening programs.
The rapid development of therapies for severe rare genetic conditions highlights the need to bring first-tier genetic testing into newborn screening (NBS) programs. To address this, a workflow was created to screen newborns for 165 treatable pediatric disorders by deep sequencing regions of interest across 405 genes. Launched in September 2022, the BabyDetect pilot project took place in the Liège area, Belgium. More than 6,000 families were informed about the study, and over 90% consented to participate.
The rapid development of therapies for severe rare genetic conditions highlights the need to bring first-tier genetic testing into newborn screening (NBS) programs. To address this, a workflow was created to screen newborns for 165 treatable pediatric disorders by deep sequencing regions of interest across 405 genes. Launched in September 2022, the BabyDetect pilot project took place in the Liège area, Belgium. More than 6,000 families were informed about the study, and over 90% consented to participate.
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