Mendelspod Podcast

The history of biomedicine goes something like this: A new tool is invented. 2. New tool is used in research labs to generate new data and new hypotheses. There is new science. 3. New tool is used in clinical setting to confirm this new science with real patients. 4. Then new tool is adopted into clinical use. All the buzz these days, single cell DNA analysis instruments have just made it into step three.

"That’s fake news!” We hear it all the time. And often it is said about scientific facts, for example, recent studies or evidence of global warming. Or the safeness of vaccines. But has the problem with “fake news” been that much of an issue in the life science industry?

Our two favorite commentators are back for our February 2019 month-in-review show, and to give our own twist to Valentine's Day celebrations we take on the topic of family surprises due to DNA testing. This is a phenomenon taking the world by storm in 2019. The Boston Globe had a great headline this past week, "First came the home DNA kits. Now come the support groups."

In 2016, after President Obama announced the Cancer Moonshot in the State of the Union, a very outspoken physician researcher from the Mayo Clinic penned an open letter to Vice President Biden criticizing the project and proposing the money be better spent other ways. It included these lines:

Talk to anyone who’s been around diagnostics or blood sampling for long, and they’ll tell you that nanotechnology is nothing new. Today’s guest, Brett Goldsmith, the Chief Technology Officer at Cardea, says he was involved in the nano revolution that was and then wasn’t 20 years ago. (The older veterans among us might date it back even further, to forty years ago.) So what are Brett and Cardea buzzing about early this year in a new Nature paper?

Nathan and Laura are back for the first time this year for a wild trip past cloned CRISPRd monkeys and the first gene drive in mammals. (Just that?) But first we have to deal with our hangover from the end of last year. We talk DTC and end with a discussion of the ancient DNA controversy.

You’re a mother, and life is typical. You’re also a pediatrician. Then one day you hear that your daughter is autistic. OK. Then you get the news that, no, it’s not autism but a very rare disease called Sanfilippo Syndrome. From your training as a pediatrician you quickly think back and remember the MPS rare diseases, but nothing else prepares you for what’s ahead.

There are hundreds of pregnancy apps available. So what is unique about the NIH’s new crowdsourcing project called PregSource? “We think PregSource is different because we offer the security and reliability of having been developed at the NIH with the participation of well regarded organizations. We’ve developed the content with expert input at every stage. Their are no ads at PregSource. And, of course, we will never, ever share or sell the data with a commercial organization.”

Today we engage in a rare discussion between a startup founder who is going beyond sequencing and working directly with cancer patient cells in 3D cultures and with one of his customers, the husband of a cancer patient. Meet Christian Regenbrecht, the CEO of CPO or Cellular Phenomics and Oncology based in Berlin, Germany and Janos Flosser, a fund manager who invests in technology from Copenhagen, Denmark.

It’s the question of the moment Are we living in the age of AI? Or is it still just hype? When it comes to the latest research in immuno therapy, computational modeling is helping to answer key open questions, such as which patients might respond to which drugs. "If you were to ask me last year about deep learning, I would probably say, aaah, most of the algorithms that are published are not really answering the important questions yet. But I think this year I am converted. We are starting to use deep learning, and we are starting to see interesting results.”

At the end of the year, we like to speak with a journalist who covers genetics about some of their stories.

Designer babies. The term means many things to many people. To some it means kids only dressed in Gucci. Some say that by doing pre-implantation genetic screening, we are already living in the age of designer babies. Others have been holding out for that time when humans edit their own germline offering the new progeny not only disease repair, but also enhancements. It's also argued there’s a third category in the middle there somewhere, a protection against disease in the future. That’s what He Jiankui attempted.

A one month old baby is admitted to a hospital with fever. This is cause for serious alarm. The child is put on broad spectrum antibiotics. The infected area is drained and a culture run to try to identify the pathogen. The cultures come back negative, the pathogen not identified.

Sara Radcliffe can be happy--extra happy. She is the CEO of the California Life Sciences Association at a time when the state is breaking records, beating out every other state in category after category. Today Sara discusses a new report the organization has released along with PWC detailing our sector’s explosive growth. Jobs: check. Wages and revenue: check. VC funding: check. NIH funding: check. California leads in all. Big yaaaawn?

What a week! And a great time to have on our expert contributors, genomicist Nathan Pearson and genetic counselor Laura Hercher, to talk about what is reportedly a first in history: babies born with a gene altered. They'll be called Lulu and Nana. So just how pissed, scared, shocked, and curious are we after three days?

If Mendelspod had an annual Product of the Year award, we'd certainly be liking for 2018 the one featured today, a digital genetic counseling product for direct-to-consumer genetic testing. Hats are off to Ellen Matloff, a genetic counselor formerly at Yale who saw the DTC boom coming a few years ago, busted out of academia, started My Gene Counsel, and last month launched her first digital product.

The MPS Society is a rare organization. Not just because it is an umbrella for the rare diseases that have in common lysosomal storage malfunction. But because it is one of the largest rare disease organizations in the world. Terri Klein is the CEO leading the MPS Society. She says the group has over three thousand members on their roster. This brings some strength and resources in an area where low numbers intensifies an uphill battle.

Just hours after Illumina announced their buyout of Pacific Biosciences, Theral sits down with longtime sequencing Omics Omics blogger, Keith Robison, and the Chief Science Officer at sequencing marketplace, AllSeq, Shawn Baker, to discuss the news which has taken the industry by surprise. A special thanks to our sponsor, Sage Science, and the quick decision on this show.

As an election nears, the question of race and genetics has been front and center. It even prompted ASHG to take the unusual step of making a group wide statement. The three of us agree: scientists should talk more about the race question with non-scientists. Two papers in Tech Review this month show that the world of people buying cures and disease prevention through gene editing isn’t around the corner, it’s here. Now what about those who can’t afford it? One of the papers was written by our very own Laura Hercher.

Time is health. Take certain blood cancers, for instance. When a patient is seen in a doctor’s office, they are then sent to a central lab for testing, and the results can take a few days. With blood cancer patients, these few days can be vital. For years a holy grail in diagnostics has been to get diagnostic tests to the point-of-care based on just a few drops of the patient’s blood that could give immediate results.