Clinical Practice for Rare Genetic Disease in Genomic Era

Go Hun Seo MD, Ph.D. (Chief Medical Officer of 3billion)

In this talk, Go Hun Seo introduced the CAP (College of American Pathologists)-accredited genomic sequencing tests that 3billion currently offers and talked about the bioinformatics pipeline and variant interpretation tool, EVIDENCE, that was developed in-house and shared the overall diagnostic rate of 3billion's patient cohort. Also talked about the automated daily reanalysis system and how it contributes to increasing the diagnostic yield. Lastly, she reviewed the proposed clinical practice for patients with rare genetic disorders, especially those who remain undiagnosed after receiving a genetic test.

Molecular Diagnosis of Rare Genetic Disorders - Interesting Case Series

Seung Woo Ryu (Medical Geneticist of 3billion)

This talk focused on two complicated cases that were diagnosed by whole exome sequencing (WES) and whole genome sequencing (WGS). The first case was a 3-year-old patient with syndromic features including ataxia, seizures, and infant liver failure. This case illustrated the importance of investigating VUS by correlating with the phenotype and highlights the need of collaboration between the laboratories and the physicians. The second case was a 31-year-old male patient with a clinical diagnosis of Tuberous Sclerosis. This case illustrated how WGS can find complex structural variants and help improve the diagnostic rate even for such disorders with relatively clear clinical diagnosis.