Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

3billion announced that Chief Medical Officer Dr. Gohun Seo will be introducing a poster at ACMG 2022. 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 res ulted 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.

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. Further program details will be available at ACMG 2022.