Genome Insight, a whole genome sequencing (WGS) company located in San Diego, unveiled its groundbreaking research findings in collaboration with Seoul National University Hospital (SNUH) and Asan Medical Center (AMC) at the 2023 NORD (Rare Disease & Orphan Products Breakthrough Summit).
During the ongoing summit from Sunday to Tuesday, the company presented its WGS research on sensorineural hearing loss (SNHL) and its applications in diagnosing other rare diseases.
SNHL is a condition characterized by hearing loss due to abnormalities from the inner ear to the auditory region of the brain, underscoring the importance of early detection.
Earlier in May, Genome Insight introduced its advanced rare disease WGS platform, RareVision. With curated expertise from clinical geneticists, RareVision significantly enhances the speed and accuracy of genetic diagnostics, the company said.
In the first research abstract presented at NORD, Genome Insight showcased their study involving 394 SNHL patients from Seoul National University Hospital.
While traditional genetic diagnostic tools failed to identify the disease in 72 of these patients, the RareVision platform was able to accurately diagnose 23.6 percent (17 patients) of this subset.
Further analysis using WGS led to new insights into genetic mutations associated with SNHL, solidifying the clinical efficacy of the RareVision platform.
A second research abstract introduced findings from a collaboration with AMC. This study analyzed 300 patients with various rare diseases.
Using RareVision, an additional 30 percent of patients previously undiagnosed by conventional techniques were accurately identified.
"The 2023 NORD Summit provides us a significant platform to showcase our capabilities in rare disease research to the global community," Genome Insight Chief Research Officer Koh June-young said.
Genome Insight Chief Technology Officer Lee Sang-moon also said, "Through our extensive collaborations in genetic research, Genome Insight is poised to become the company with the largest global database on whole genome sequencing for rare diseases."