SEOUL, South Korea, March 21, 2022 /PRNewswire/ — 3billion announced that Chief Medical Officer Dr. Go Hun Seo will introduce a research poster at ACMG annual meeting 2022, held in Nashville, TN, from March 22 through 26. This poster highlights the importance of continuous reanalysis for undiagnosed patients.
In a previous single-center pilot study, Dr. Seo introduced a new automated, streamlined variant analysis software, referred to as EVIDENCE, which yielded a 42.7% diagnostic rate in patients with various clinical phenotypes(proband-only analysis of 1065 consecutive patients with neurodevelopmental delay/intellectual disability). As a result, 402 patients from 1056 unrelated families (38.0%) received a molecular diagnosis.
After the initial study, 3billion implemented a daily reanalysis pipeline, which resulted in additional 31 patients receiving a diagnosis. The reanalysis pipeline increased the molecular diagnostic yield to 41% (433/1,056 families). Among these 31 patients, 26 patients were diagnosed due to the discovery of a new gene-disease association. The time interval between the first analysis and the molecular diagnosis by reanalysis was 1.2 ± 0.9 years. In particular, 6 patients were diagnosed approximately 100 days after the initial report. The research paper “Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay” has been accepted and will be published in Molecular Medicine.
Based on this data, Dr. Seo stresses the importance of reanalysis being done as soon and often as possible for those patients waiting to be diagnosed.
Dr. Seo will be presenting on 3billion’s pipeline at booth #623 on Thursday, 24, 2022.
Another in-booth presentation program, 3billion’s AI-based pathogenicity predictor will be introduced. On-site application for the first Whole Genome Sequencing Grant will also be held. For further details, Visit 3billion’s Annual Clinical Genetic Meeting 2022 Page.
3billion is a Korean startup founded in 2016. Since then, it has focused on providing clinical diagnostic services targeting more than 7,300 rare genetic diseases affecting about 400 million people worldwide.
3billion obtained CAP accreditation from the College of American Pathologists (CAP) in November last year, taking one step closer to the global diagnostic market. Working together with more than 200 institutions in 46 different countries, 3billion is expected to play more significant role in the US market, with its unique technology in rare disease diagnosis.
About ACMG Annual Clinical Genetics Meeting
ACMG’s mission is to empower its members to be leaders in the integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. They host annual meetings where all the world-renowned researchers and physicians gather to share insights and knowledge.