panel testing


Bob Nussbaum on the State of Genetic Testing: 2020 Edition

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.”

Should We Increase Panel Testing for All Breast Cancer Patients?

It’s a hot question in the field today. Recently several studies arguing for increased testing for all breast cancer patients have been published in leading oncology journals.

Peter Beitsch is a breast cancer surgeon in Dallas Texas and co-author of one such study in the Journal of Clinical Oncology. He says that NCCN guidelines were created when tests were much more expensive and in an outdated context and that many patients are going under-diagnosed today.

Amy Taylor co-authored a letter to the editor hitting back against Peter’s paper, arguing that the tests he is promoting are not the right ones. She’s a genetic counselor at Cambridge University Hospitals.

Andrea Forman is also a genetic counselor. She is concerned about the long term care of the patients and questions whether we have the infrastructure to implement such increased testing now.

Join us for a lively back and forth on the state of breast cancer testing today.



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