#177 Whole Genome Sequencing with PerkinElmer Genomics

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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Stay tuned for the next new episode of DNA Today on April 1st 2022, where we’ll be discussing single-cell spatial genomics with Vizgen! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

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