In this episode:

• We are back talking with Mike Hu about Project GUARDIAN.
• Project GUARDIAN advocates for and supports sequencing based newborn screening to identify pre-symptomatic patients who can either benefit from early intervention using existing treatments or eligible for clinical trials of novel treatments, at a disease stage when treatment could be maximally efficacious.
• We discuss what genome sequencing is and the role it can play in diagnosis of rare diseases in the future.
• We also discussed epigenetic modifications that are specific to an individual.
• How is genomic sequencing different than mass spectrometry and how could it transform newborn screening? Mike unpacks his vision.
• When we talk about expansion of the newborn screening system, it is necessary to introduce new platforms that go beyond mass spectrometry, and genomic sequencing is a suitable one.
• We discuss the challenges introducing large scale sequence based newborn screening studies in the US.

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