Bob Nussbaum on the State of Genetic Testing: 2020 Edition

Bob Nussbaum has, Chief Medical Officer at Invitae

Bio and Contact Info


0:00 Why use increased breast cancer panel testing?

6:35 British vs U.S. systems

17:05 Where’s the sweet spot for expanded carrier screening?

24:05 What’s the role of germline testing if a person has had somatic testing?

28:57 Is it “expanded testing” or “comprehensive testing”?

31:51 Is there a headline that summarizes your time in the field?

From a career at NIH where he was Chief of the Genetic Disease Branch to academic Chief of Medical Genetics at UCSF to his current business title of Chief Medical Officer at InVitae, Bob Nussbaum has been a central figure in the field of genetic testing. A chief among chiefs. Today he gives our State of Genetic Testing: 2020 Edition.

Our approach is to ask Bob to weigh into the recent debates that have come up this past year. And they can be summarized into one question. Even one word. "Expanded."

What are Bob’s thoughts on expanded breast cancer panels? Should the NCCN guidelines be adjusted? Costs have come down—thanks in large measures to his company, Invitae. And the sheer number of good quality tests has gone way up.

What about expanded carrier screening?

What about the role of germline testing when a person has had somatic testing?

Is "expanded" even the right word?

Here’s Bob on the field today:

“It’s probably underdeveloped. There’s not gonna be a blockbuster test like there’s a blockbuster drug. There’s not going to be a secret sauce that one company has that another doesn’t have. Testing at this point involves service. It’s a service industry.”