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DTSTAMP:20260831T063836Z
UID:48597530-a9d6-4777-8f50-efa3fd57dcfc
DTSTART:20221116T150000Z
DTEND:20221116T170000Z
DESCRIPTION:Next generation sequencing is revolutionizing rare diseases med
 icine. The pace of gene discovery and orphan drugs has accelerated since t
 he implementation of this technology. Despite the successes\, this impleme
 ntation also comes with challenges that are different in depending on the 
 setting : developed versus developing countries. Our talk will explore  s
 ome aspects of the implementation of Whole Genome Sequencing on both sides
  of the development threshold.In the first part\, we will present the chal
 lenge of reducing the time to diagnostic for critically ill pediatric pati
 ents using the rapid whole genome sequencing. Genetic diseases are an impo
 rtant cause of hospital admission and death for small infants. Whole Genom
 e Sequencing in a short turnaround time (rapid WGS\, rWGS) represents a va
 luable exploration in critically ill pediatric patients as it can signific
 antly shorten the diagnostic odyssey while allowing to explore SNVs\, CNVs
 \, mitochondrial DNA and microsatellite from the same data. We combined a 
 high-throughput NGS platform with cloud-based computing data analysis serv
 ices to evaluate the feasibility\, time to diagnostic\, yield\, and utilit
 y of rWGS in Belgium in 18 trios and 2 duo since February 2020. We also ex
 plored the usefulness of the molecular diagnostic. In the second part\, w
 e will discuss the challenges of the implementation of the clinical Whole 
 Genome Sequencing in the first 45 patients included in the iHope Program i
 n the DR Congo.
SUMMARY:Implementation of clinical Whole Genome Sequencing across the sea
URL;VALUE=URI:https://www.h3abionet.org/categories/event/webinars/implement
 ation-of-clinical-whole-genome-sequencing-across-the-sea
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