First-Line Genomes: The (New) Standard of Care
In this presentation, genomics expert Christine Stanley, PhD, FACMG explores the societal recommendations and justifications for whole-genome sequencing (WGS) as a first-line diagnostic tool. She explains WGS’s technical superiority, including its ability to detect structural and non-coding variants, and its uniform genome-wide coverage. Christine illustrates WGS’s advantages through patient cases, highlighting variants undetected by other genetic tests like exome and gene panel analyses and presents validation evidence that demonstrates WGS’s improved diagnostic yield.
About the speaker
Christine Stanley, PhD, FACMG
Dr. Stanley is the Chief Genomics & Compliance Officer at Variantyx and an expert at interpretation of whole genome data. Christine oversees technical innovation, clinical interpretation, and regulatory compliance at Variantyx.
Christine holds a PhD in Human Genetics from the Medical College of Virginia with fellowship training at Boston University in clinical molecular genetics. She is a diplomate of the American Board of Medical Genetics and Genomics and a Fellow of the American College of Medical Genetics and Genomics. She is a member of the Clingen expert panels: Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel and Mitochondrial Diseases Gene Curation Expert Panel. Dr. Stanley is the CLIA and NYS license holder for Variantyx.
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