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." 

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Bob Nussbaum on the State of Genetic Testing: 2020 Edition

Offering a front row seat to the Century of Biology, veteran podcast host Theral Timpson interviews the who's who in genomics and genomic medicine. 

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This week, we saw Dr. Anthony Fauci being grilled by an angry congress over, among other things, the origin of COVID-19, which is estimated killed at least 25 million people.  He was asked about how the National Institute of Allergy and Infectious Diseases, which he directed until 2022, funded risky virus research at the Wuhan lab in China. Ever since the pandemic broke out, scientists, as well as policymakers, have been debating new restrictions on pathogen research, and last month, the White House released a new policy for what it calls “dual use research of concern and pathogens with enhanced pandemic potential. Marc Lipsitch is Professor of Epidemiology and Director of the Center for Communicable Disease Dynamics at the Harvard Chan School of Public Health.  He joins us to talk about the pros and cons of the new policy and explain how it might work moving forward. Marc acknowledges there is legitimate disagreement among scientists, but these are value-laden questions, so it's for more than scientists to decide. It should include ethicists and the public. What are some of these value-laden questions? Will this impact privately funded research, and what are some of the alternative possibilities to high-risk research? 

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Harvard's Marc Lipsitch on the New White House Policy Regulating Risky Pathogen Research

A new precision medicine startup has launched that uses transcriptomic and epigenetic information to help with therapy for a wide range of chronic disorders. Hayward, California-based Aqtual emerged from stealth at the end of last year with data on its first assay, a blood-based test for rheumatoid arthritis.Today, we’re joined by Diana Abdueva, Aqtual’s Founder and CEO, and Maggie Louie, VP of Translational Research and Strategic Partnerships."We are complex organisms that work beautifully for many years,” says Diana in today’s interview.  "But when something goes wrong, it is very hard to detect where the pathology originates.  There are many applications other than oncology, such as dermatology or immunology.”We explore Aqtual’s technology and history and consider the exciting possibilities for liquid biopsy beyond oncology. 

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Liquid Biopsy Goes Beyond Cancer: Diana Abdueva and Maggie Louie, Aqtual

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Today, we pursue an exciting area of medicine for the first time:  cell therapy for solid tumors.Most, if not all, of our audience will be familiar with the success of CAR-T therapies for blood cancers.  But only 10% of cancer is in the blood.  The other 90% develop solid tumors. Jason Bock is the CEO and founder of CTMC, a new company aiming to speed the advancement of the entire field of cell therapies. First, we cover this new treatment for solid tumors and discuss the near-science-fiction action of tumor-infiltrating lymphocytes (til). 

Cell Therapy Will Transform Medicine as We Know It, Says Jason Bock, CTMC

The Clinical Knowledge Base (CKB) powered by The Jackson Laboratory (JAX) is a dynamic digital resource for interpreting complex cancer genomic profiles in the context of gene variant knowledge and protein impact, therapies, and clinical trials. Illumina has teamed up with JAX in the newly released Connected Insights software, which integrates CKB as a knowledge source.We’re joined by Cara Statz from JAX and Erica Schnettler from Illumina to discuss how their combined technologies are helping researchers and oncologists deal with the increasing complexity of cancer genomic data. They discuss oncologists' experience with an overwhelming amount of new scientific data, and both guests give their advice for new labs setting up cancer testing. 

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Two Industry Leaders on Dealing with the Growing Complexity of Genomic Cancer Data

A paper out this week in Nature Methods demonstrates a new technology which shows novel patterns of protein spatial polarization and co-localization in immune cells. The technology launched by Swedish startup Pixelgen has been dubbed “molecular pixelation” because it uses DNA pixels to tag and reveal relative locations. Unlike most other spatial technologies, molecular pixelation does not involve microscopy.Lead author of the paper, Filip Karlsson, joins us today to explain the technology and how it might enable new proteomics research.  He says that immunology is a great application area.How does this technology fit in the spatial landscape, and how might it enable new medicine that could impact patients? 

This is a public episode. If you’d like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelspod.com/subscribe

Bob Nussbaum on the State of Genetic Testing: 2020 Edition

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