reference genome

What is a human genome? Well it’s the three billion letters of our DNA. But how is it measured? How do we know when we have it accurately represented?

These are questions that will have to be answered as precision medicine takes hold; for we must have defined standards that will be the basis for regulatory policy, commerce, and better research. These are also the questions that are foremost on the mind of today’s guest.

Marc Salit is the leader of the Genome Scale Measurement Group at the National Institute of Standards and Technology or NIST. In today’s show, he explains how NIST played a pivotal, foundational role in enabling the ‘Century of Physics.' Now Marc and NIST are looking for the right set of standards to enable the already-upon-us “Century of Biology.”

The human reference genome is an example of a standard that Marc and his team are developing. Currently they are piloting what they call “Genome in a Bottle,” a physical reference standard to which all other human genomes can be measured. How far is the team to having a complete reference genome, and what is an example of the way they are working with the FDA to ensure safe and meaningful genomic tests? Join us as we peer in at the foundation of genomics.