Three New Products to be Presented at the Global Leading Medical Genetics Conference, ACMG
Revealed two types of diagnostic services with increased diagnosis rate
Reached 98.1% accuracy in discovering patient causal genetic variant using the AI genetic variant prioritization system ‘3ASC’
3billion, an AI-based rare genetic disease diagnostic company, is showcasing its new services at the American College of Medical Genetics and Genomics (ACMG) annual meeting held in Toronto, Canada from March 13 to 15.
The ACMG (American College of Medical Genetics and Genomics) holds its annual conference to establish global genetic diagnostic standards and guidelines, positioning it as the world's largest medical genetics society. At this event, 3billion introduces three new services: ‘Boosted Exome,’ ‘3B-INTERPRETER,’ and ‘Rapid Analysis.’
‘Boosted Exome’ uses a chip designed by 3billion to test for variants that traditional WES (Whole Exome Sequencing) does not cover. This product increases the mitochondrial genome coverage from 76% to 99.8% and includes key pathogenic variant regions outside the exome area, thus enhancing diagnostic efficiency.
Both ‘3B-INTERPRETER’ and ‘Rapid Analysis’ are services enabling the diagnosis of patients through 3billion's AI genetic variant interpretation system. Patients who have previously undergone genetic testing and failed to receive a diagnosis can now be tested using only their data. Notably, the ‘Rapid Analysis’ service, introduced at the conference for the first time, provides test results within a maximum of three days if the data is available, satisfying the demand for rapid diagnosis for critically ill patients.
Following the AI variant pathogenicity predictor 3Cnet, 3billion has developed an AI genetic variant prioritization system named 3ASC. This system takes patients' symptoms into account and is applied to the 3B-INTERPRETER and Rapid Analysis services. With 3ASC, the process from data analysis to diagnosis has been significantly expedited while increasing accuracy. By employing 3ASC, it is now possible to identify the disease-causing genetic variant from 5 million WGS variants with a Top-5 accuracy rate of 98.1%.
3billion's CEO, Keum Changwon, said, "I am pleased to attend ACMG 2024 and share 3billion's advanced analysis technology with professionals. We will continue pursuing R&D and service development to solve the problems faced by patients with undiagnosed rare diseases."
Additionally, 3billion has recently passed a technical evaluation with 'A, A' ratings, affirming its position as a leader in technology within the industry. Ahead of submitting a preliminary listing examination request set for the first half of the year, 3billion is rapidly expanding its global presence, with overseas sales now making up 60% of its revenue.
