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Don’t Take “Negative” For An Answer

Thursday, December 10, 2020
2:00am PST
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

In this session, we will:

  • Define clinical validity and outline a published method for linking genes to diseases using a weighted scoring system guided by the ClinGen gene curation criteria.

  • Review how this approach is utilized to establish classification criteria of genes for clinical diagnostic exome testing, as well as for establishing multi-gene panel tests.

  • Demonstrate how lab-driven, continuous review of data to reclassify genes based on their clinical validity can impact patients who have previously received negative or inconclusive results.

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Kelly Radtke
Manager, Clinical Genomics Scientists Ambry Genetics
   

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.

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Kelly D.F. Hagman
VP, Medical Affairs
Kelly Hagman, MS, CGC, is the VP of Medical Affairs at Ambry Genetics. Prior to Kelly’s 20 year career in molecular diagnostic laboratories, she spent several years in a research lab studying DNA mutagenesis and sequencing technologies. She started her career as a genetic counselor at the Molecular Diagnostic Laboratory at City of Hope, where […]

Prior to receiving her masters in Genetic Counseling in 2004, Kelly Hagman spent several years in a research lab studying DNA mutagenesis. She started her career as a genetic counselor at the Molecular Diagnostic Laboratory at City of Hope, where she continued her involvement in research, most of which focused on Li-Fraumeni Syndrome (LFS). Driven by her interest in new molecular technologies, in 2009 Kelly joined Ambry Genetics to lead the genomic services group where she gained expertise in multiple sequencing platforms and DNA/RNA enrichment techniques. In 2011, she transitioned to the clinical team to lead Ambry’s clinical genomics offerings, most notably, diagnostic exome sequencing. Kelly is currently the co-chair of the National Society of Genetic Counselors (NSGC) Genomic Technologies Special Interest Group (SIG). Kelly is also a firm believer that the best patient care is achieved through open data sharing. She has more than 35 peer-reviewed publications in molecular genetics (https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/) and has been an invited lecturer at several scientific meetings.