Mendelspod Podcast

Why have diagnostic tests for the Coronavirus been slow on the scene? What have been the challenges for lab directors? Were they scientific? Were they regulatory? Were they scaling challenges? Are they still scaling challenges? Supply chain problems? Elaine Lyon worked for many years at the molecular genetics lab at ARUP at the University of Utah and is now the Clinical Services Lab Director at Hudson Alpha. In both of these jobs she has designed and overseen the design of many diagnostic tests.

After the virus reached American shores, was the FDA quick enough to allow companies and labs to develop their own tests without restrictive oversight? The question sparked a sweeping new bill in congress, the VALID Act that could overhaul FDA oversight of diagnostics altogether—something that has been clamored for for a generation. Turna Ray has been covering the FDA and diagnostics for GenomeWeb since 2006. She has recently written a piece on the new VALID Act that includes responses from various members of the community.

Laura comes to us from her flat in New York, Nathan is stuck in San Diego, but they are here and ready to discuss what a month ago was a warning and now is a full blown world crisis. What have they faced personally? What are their thoughts on testing? And what are some of their early big picture reactions as to how this will all go down? We make some time for some Corona-free science as well.

More than one in two hundred people have an inherited form of heart disease. But most don’t know it. Often on Mendelspod we talk about cancer genomics, but in the area of cardio, too, genetic testing can save lives. Amy Sturm is the Director of Genomic Counseling and Screening Program at Geisinger Health Systems. There she has led the effort to return the results of cardio genetic tests to over 1,000 patients.

Lisa Alderson has been helping to build genetic testing companies for a while. In 2016 she co-founded her own company, Genome Medical, a tele-genomics firm to help patients and providers understand genetic testing results. Anyone in the genetic testing industry will know that Genome Medical’s offering addresses a burning need. As Lisa remarks in today’s show, genetics is complicated.

What do we actually know about the novel coronavirus, we ask our two monthly commentators at the outset of February’s review show. Then, speaking of pandemics, as Bernie fever sweeps America, we explore the charge that Medicare for All means an end to innovation. Laura gives an update on the status of the genetic counseling bill, and Nathan comes to us live from AGBT with highlights from Marco Island.

“To be fully honest, I think some of these tests are scary tests. I’ve had the luxury of testing myself . . . some of this needs to have the physician and the genetic counselor involved.” That’s Pouria Sanae, a newcomer to our field via Yahoo and Helix. He’s also a Swede which gives him a fresh perspective on American genomic culture. Last month Pouria and his co-founders launched ixlayer, a new platform that integrates many of the players in the genomic medicine space: DTC companies, clinical labs, and physician/providers.

23andMe lays off over 100 employees. Illumina comes to the JP Morgan empty-handed. Has Precision Medicine seen it’s heyday already? Or are we gearing up for another wave of innovation? Nathan and Laura are again ready for the tough questions of genomics. We begin with the current spat between genetic counselors and the ACMG. Like, . . . huh?

Our end-of-year special guest is one of the U.K.’s top genomicists, Ewan Birney, Co-Director of the European Bioinformatics Institute at EMBL. He is also the non-Executive Director for Genomics England.  Ewan's perhaps best known for his work with the ENCODE consortium.

The gene edited babies, Lulu and Nana, turn one. Laura Hercher says it feels like it’s been five years. Nathan says, “Happy Birthday.” Along with our genomics headline party this month, we also discuss a comment that came in from our last show which leads us to the question, can we discuss science without discussing politics? It’s Nathan, Laura and Theral for almost a full hour sifting through November’s news.

Just in time for Black Friday, Ancestry.com has launched new health testing. Thanksgiving week (the company calls the shopping holidays the “Turkey Five”) has been kind to what is the largest DNA testing company in the world. Back in 2017, their ancestry test competed with the Instapot for Amazon’s top sellers on the biggest shopping day of the year. To date Ancestry has sold over 15 million DNA tests.

On November 25th, 2018, the world was shocked to find out a Chinese scientist, He Jiankui, had edited the germline of twin girls-and the twins had been born. Many in the scientific community remember that Sunday afternoon well as the story broke on MIT's Tech Review, "EXCLUSIVE: Chinese scientists are creating CRISPR babies." Today’s guest can even tell you what he had for dinner that Sunday and just what was his reaction. "Holy Shit!"

Warning: the first part of this story can sound quite typical. Three co-founders with backgrounds in genomics and AI found a Stanford spinout. Their goal: to bring the tools of AI and computational modeling to unlock the medical secrets of the genome and deliver those to patients. They call this company, Jungla—Spanish for “jungle”—naming not only their adventure, but the whole problem. Then things get interesting.

In 2013 Twist Bioscience was a newcomer to a market that most of us thought was saturated, cornered, commoditized—that of synthetic DNA. But Emily Leproust and her co-founders saw something different. They saw "a big market with unhappy customers.” Today, with a radically disruptive technology, they are market dominant. Twist is a publicly traded company whose stock has doubled already once since they IPOd last year. Imagine, a DNA synthesis company going public! And then seeing their stock perform so well. This is tricky for the most hyped of tech or biotech startups.

Our Halloween show this year summarizing October’s genomics news has more tricks and treats than spooks and scares. It’s Nathan and Laura back to sift through a big month of happenings from the cool CRISPR upgrade to Inscripta’s bold move in gene editing to Ancestry.com’s shift into health testing. It’s all here, right now, on Mendelspod.

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.

Not many people have had quite the same view on the genomics revolution as John Stuelpnagel. He co-founded Illumina, Ariosa, and Fabric Genomics (formerly Omicia). And he’s the Chairman of Fabric, 10X Genomics, and Inscripta. And not all had the foresight John did that biology would turn out to be so complex. John is our guest today to preview and describe what he calls the new “writing” phase of genomics, which he says is already underway.

Ed Abrahams has a message for Nancy Pelosi about HR 3. That’s the new bill in the House to reduce drug pricing. Ed is the President of the Personalized Medicine Coalition, an advocacy organization in Washington representing our industry which will soon announce a new caucus in congress devoted to personalized medicine. Ed joins us today and says to Pelosi, there’s a better way, a more American way to reduce drug costs.

"Welcome to the era of T2T genomics,” tweeted UCSC’s Karen Miga on August 16th of this year. Then she linked to a paper on bioRxiv that begins: "After nearly two decades of improvements, the current human reference genome (GRCh38) is the most accurate and complete vertebrate genome ever produced. However, no one chromosome has been finished end to end, and hundreds of unresolved gaps persist.”