BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay
ONCE UPON A GENE - EPISODE 221
BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay
I'm joined by Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay to discuss BeginNGS, a ground-breaking initiative that stands at the forefront of genetic sequencing and rare disease diagnosis.
EPISODE HIGHLIGHTS
What led to the creation of BeginNGS?
Rare genetic diseases are an immense health ecosystem challenge- receiving a timely diagnosis. On average, it takes 4.8 years to diagnose a child with a genetic disease, and meanwhile, symptoms…
The skinny
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