Show notes
World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer.
Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine.
On This Episode We Discuss:
The difference between WES and WGS
How WGS differs between laboratories
The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expecting
Situations in which trio testing is helpful for WGS
Prenatal WGS
The future of newborn screening
WGS for hereditary cancer syndromes
How people learn more about PerkinElmer’s WGS
Learn more about WGS at PerkinElmerGenomics.com and follow them on Twitter, Facebook, and LinkedIn. Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn.
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