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

• 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.

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Kelly Radtke, PhD | Presenter

    

Kelly Radtke, PhD is the Manager of Rare Disease Scientists at Ambry Genetics and leads a team of PhD scientists in the analysis of diagnostic exome variants, maintaining an up-to-date clinical validity database, and reanalyzing and reclassifying previously reported exome cases. She participated in developing and publishing a framework for evaluation of clinical validity for clinical laboratory use. She participates in publication of novel genetic findings and methods and analyzes clinical diagnostic exome data to aid in genetic diagnosis of patients. She earned a Ph.D. for the University of California – Irvine for her work in Dr. Tom Schilling’s laboratory which analyzed genetic and developmental feedback mechanisms of the retinoic acid signaling pathway in patterning the early zebrafish embryo.

Susan Toomey, MS, CGC | Moderator

    

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.