Reality Checking Clinical Genetics and Genomics - Julie Eggington скачать в хорошем качестве

Reality Checking Clinical Genetics and Genomics - Julie Eggington

Abstract: The genomic revolution promised a new era of "Precision Medicine", where treatments would be precisely tailored to the individual's genetic makeup. This paradigm hinges on the assumption that one's genome can directly inform optimal therapeutic strategies. However, as the field of clinical genetics and genomics has evolved, a growing body of research is illuminating significant concerns regarding the foundational assumptions and laboratory practices underpinning this approach. The cracks in the patchwork of laboratory test regulation in the United States have allowed clinical genetic and genomic laboratory tests with poor performance and unproven clinical claims to flourish. In order for the aims of precision medicine to be met more reliably for more patients the industry must raise the bar on its evidentiary requirements. Bio: Dr. Eggington is the co-founder and CEO of the independent non-profit Center for Genomic Interpretation (CGI) in the United States. She advises policy makers on precision medicine, and is a member of numerous national and regional committees, working groups, and forums. Dr. Eggington directed clinical genetics programs at Myriad Genetics, Courtagen Life Sciences, and 23andMe prior to co-founding a genetic diagnostics consultancy company in 2016. The need for a disruptive nonprofit organization that would encourage and facilitate a higher bar of quality, clinical validity, and accuracy in clinical genetic and genomic testing became clear through this consulting work, leading Dr. Eggington to co-found the nonprofit CGI in 2017. She was a 2019 Sego Award winner for Utah women co-founders/CEOs in Innovation in Technology. In her formal training, Dr. Eggington was a postdoctoral fellow at a Howard Hughes Medical Institute Laboratory, and received her Ph.D. in Biochemistry from the University of Wisconsin-Madison, her M.S. from the University of Utah, and her B.S. with Honors from Brigham Young University. Dr. Eggington grew up in the Outback of Australia.