[Rebroadcast] Reanalysis and Reclassification of Diagnostic Exome Sequencing with Kelly Radtke, PhD

• This is a rebroadcasting of a previously held EducateNext session followed by a live Q&A with the speaker.  Rebroadcasted webinars will not be eligible for CEU credits.

  Diagnostic exome sequencing (DES) is successful in providing a molecular diagnosis for 25-35% of patient with underlying Mendelian diseases. Reaching a diagnosis is of paramount importance because it brings about an end to the expensive, time-consuming, and potentially invasive diagnostic odyssey. The DES diagnostic rate is continually increasing due to the rapid rate of new gene-disease discoveries. Because virtually all genes in the genome are sequenced, a major benefit of DES over gene panels is that patients benefit from reclassification when new, relevant gene-disease relationships are discovered. DES reclassification reports occur due to a variety of reasons including reanalysis requests with new patient clinical information, bioinformatics pipeline upgrades, variant reclassification, but the vast majority occur due to reporting alterations in newly characterized disease genes. We will focus on the rates of reclassification due to these various reasons in one lab’s experience. We will focus on how reclassifications due to the discovery of new gene-disease relationships aid in increased DES diagnostic rate.

Kelly Radtke, PhD | Presenter

Manager, Clinical Scientists- Rare Disease, Ambry Genetics

Diagnostic exome sequencing (DES) is successful in providing a molecular diagnosis for 25-35% of patient with underlying Mendelian diseases. Reaching a diagnosis is of paramount importance because it brings about an end to the expensive, time-consuming, and potentially invasive diagnostic odyssey. The DES diagnostic rate is continually increasing due to the rapid rate of new gene-disease discoveries. Because virtually all genes in the genome are sequenced, a major benefit of DES over gene panels is that patients benefit from reclassification when new, relevant gene-disease relationships are discovered. DES reclassification reports occur due to a variety of reasons including reanalysis requests with new patient clinical information, bioinformatics pipeline upgrades, variant reclassification, but the vast majority occur due to reporting alterations in newly characterized disease genes. We will focus on the rates of reclassification due to these various reasons in one lab’s experience. We will focus on how reclassifications due to the discovery of new gene-disease relationships aid in increased DES diagnostic rate.

Susan Toomey, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

Susan Toomey joined Ambry Genetics in 2017 as the General Genetic Specialist for the Mountain and Pacific Northwest territories. Susan received her Masters of Science Degree in Biophysics and Genetics from the University of Colorado; and holds a BA in Sociology and Evolutionary Science from the University of Cincinnati. She has held previous genetic counseling positions at the Colorado Genetics Laboratory, Colorado Center for Reproductive Medicine, and the Children’s Hospital Colorado in the Neurocutaneous and Neuromuscular Clinics.