Mary Norton is a perinatologist and clinical geneticist at UCSF who says that in the age when we are diagnosing ever more rare diseases, adding to the carrier screening panel can be a good thing, but it’s complicated.

But it can be a good thing.

But it’s complicated. 

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The Pros and Cons of Expanded Carrier Screening with Mary Norton, UCSF

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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The genome has been the core focus of biomedical research for twenty years. Although the genome is prewritten and predetermined, much biology happens after it appears. One area is epigenomics, which is the modification of genomic outcomes. Bret Barnes has spent his career at Illumina developing the DNA methylation Infinium arrays that have become the workhorse of epigenomic studies around the world. Barnes says he was torn as a young person between biochemistry and computer science. He fortuitously ended up at UC Santa Cruz when they launched the first bioinformatics degree. Early on, he was interested in protein structure prediction. “There are 20 amino acids,” he said. “Way more exciting than DNA with only four bases.” But then he discovered the fifth base. “Methylated cystine is the fifth base. So five, not four — a little better,” he continues. At the time of the Solexa acquisition, Illumina recruited Bret to do bioinformatics work on DNA methylation. “If the king and queen of DNA methylation at Illumina were Kevin Gunderson and Marina Bibikova, then you could think of me as the prince or maybe the joker,” he says, tongue in cheek. Where are we at today in epigenomics? What applications does Barnes see for the actionable epigenome, and how is the field developing? 

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The Actionable Epigenome with Bret Barnes, Illumina

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Not content to offer “me too” products, a new company in the prenatal arena, Billion to One (BTO), is reimagining prenatal testing. Last year, their new Unity Fetal Risk Screen was featured in the American Journal of Human Genomics as a top advancement in applying genomics to clinical care. Joining us today is Jennifer Hoskovec, Senior Director of Medical Affairs at BTO. She says the new Unity Screen offers two steps in testing: the first screen and, if necessary, a risk assessment for the baby. These can both be done with a single blood draw from the mother. Up until now, the father’s DNA was needed as well as the mother’s to determine risk assessment. Because a sample of the father’s DNA may not be easily attainable or can just cost more, Jennifer says that the new Unity Screen is further democratizing prenatal testing.

Not All Prenatal Screens Are the Same: Jennifer Hoskovec, Billion to One

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). 

The Pros and Cons of Expanded Carrier Screening with Mary Norton, UCSF

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