State of the Industry: Germline & Somatic Test Accuracy

Tuesday, May 21, 2019
State of the Industry: Germline & Somatic Test Accuracy
Tuesday, May 21, 2019 11:00 AM - 12:00 PM (Pacific Time)


Description of Program Content:

The rapid advancement of NGS laboratory developed tests have exceeded the oversight scope of CLIA & CAP. Pricing pressure, belated standard setting, clinician expectation & evolving test populations have led to a largely unrecognized inaccuracy crisis in clinical genetics & genomics. We will present areas many labs struggle with that need improvement. These areas are part of the Center for Genomic Interpretation’s ELEVATEGeneticsTM quality audit process that is beginning to be used by health insurance payers, & is complementary to PLUGS.

Measurable Learning Objectives
At the end of this activity the participant will be able to:

1. Better assess the appropriateness of gene selection on panels.
2. Better assess a lab’s NGS Bioinformatics variant calling process.
3. Better assess a lab’s Variant Classification accuracy.

Presenter:  
Julie M. Eggington, M.S., Ph.D.
Co-founder & CEO 
Center for Genomic Interpretation, an independent 501(c)(3) nonprofit
www.genomicinterpretation.org
Bio: Dr. Julie Eggington co-founded the Center for Genomic Interpretation (CGI) as a 501c3 nonprofit organization in 2017, with the mission to drive quality across the clinical genetics & Precision Medicine industry. CGI provides a variety of services to health insurers, health systems, genetic testing labs, clinicians & patients. Dr. Eggington is a leading world expert in clinical genetic variant interpretation. CGI began by helping laboratories increase their variant classification accuracy. CGI’s services have since expanded. CGI's ELEVATEGenetics initiative helps health insurance payers compare quality metrics between genetic testing labs. CGI also provides boutique Health Technology Assessments to payers, focused in the genetics & genomics space within Precision Medicine.

Dr. Eggington has directed clinical genetics programs at Myriad Genetics, Courtagen Life Sciences, & 23andMe. Dr. Eggington received her Ph.D. in Biochemistry from the University of Wisconsin-Madison, her M.S. from the University of Utah, & her B.S. from Brigham Young University. She grew up in the Outback of Australia.


 

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