[Asia Economy Reporter Chunhee Lee] GC Genome, a clinical genomic analysis specialist company, announced on the 22nd that it has been granted a technology patent by the Korean Intellectual Property Office for its newborn genome screening test called ‘i-screen’.
‘i-screen’ is a test that screens the 23 pairs of genomes (chromosomes) of a newborn by collecting blood immediately after birth. Using next-generation sequencing (NGS) technology, it detects numerical and structural abnormalities of chromosomes based on whole genome sequencing (WGS). Notably, it can identify numerical variations across all 23 pairs of chromosomes, as well as partial deletions or duplications of chromosomes, from a small amount of blood collected from the newborn’s umbilical cord blood or heel prick. It is capable of detecting chromosomal abnormalities larger than 400kb. Through this, it can test for various clinically significant genetic disorders caused by chromosomal abnormalities, such as autism and intellectual disabilities.
This patent enhances reliability by utilizing a special algorithm that measures production data quality, and employs a proprietary algorithm for detecting structural abnormalities of pseudoautosomal chromosomes, enabling more accurate detection of structural abnormalities in sex chromosomes compared to existing methods.
Ki Changseok, CEO of GC Genome, said, “We are pleased to have our i-screen test’s stability and accuracy recognized through this technology patent acquisition,” and added, “We will strive to contribute to quickly identifying various genetic disorders that may occur in newborns, helping to alleviate the concerns and fears of newborn parents.”
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