Mendelspod Podcast

We set up an interview with David Spetzler, the CSO of Caris Life Sciences, to hear about some promising new liquid biopsy tests they are developing. And we do that in today’s show. But first, the interview takes a turn toward the regulation of molecular tests. Spetzler says that Caris is already doing as many quality certifications as possible short of FDA oversight. 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

Angel Pizarro has watched as genomics and cloud computing have grown up together. Formerly a bioinformatics director at University of Pennsylvania, Angel is now the Technical Business Development Manager at Amazon Web Services.At U Penn, Angel was part of the shift from setting up one’s own facility with expensive computer equipment for handling the rapid growth of omics data to using a third party service, such as AWS. He says that genomics and the cloud are both going through a "second puberty.” In today's show, Angel explains growing pains involved. 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

In 2004, California voters approved Prop 71 to fund the field of stem cell research by setting up the California Institute of Regenerative Medicine, or CIRM, with $3 billion. George W. Bush was in the White House at the time, and since 2001, his administration had been limiting research that used embryonic stem cells. 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

We toss the term "precision medicine" around with ease today, and yet payers continue to refuse to pay for diagnostic tests.These are tests that might indicate which treatment will work for a specific patient, thereby saving perhaps hundreds of thousands of dollars, not to mention protecting the patient from unnecessary harm. These are tests which prevent invasive procedures such as unnecessary biopsies. 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

Josie Briggs is Director of the National Center for Complementary and Integrative Health (NCCIH) at the NIH. She is also currently serving as interim director of the president’s new Precision Medicine Initiative (PMI).What has happened since the president announced the initiative, what is the proposed timeline going forward, and how much money will there be for the project ongoing? 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

As the FDA works away on final guidance for regulating LDTs, various professional groups unhappy with the course of the FDA have put together and hurried their own proposals up to Captiol Hill. The Diagnostic Testing Working Group (DTWG) has had their proposal drafted into legislation which has already been revised once in the House Energy and Commerce Committeee, while proposals from the College of American Pathologists (CAP) and the Association of Molecular Pathology (AMP) have been presented to both the Senate and the House. 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

Here on the show, we’ve talked about the lack of reproducibility for much of biological research. We’ve bandied around various percentages--is it 50% or up to 90% that can't be replicated? And we’ve poked around various issues that may be causing such poor science.Nicole Perfito is the manager of the Reproducibility Project: Cancer Biology, an effort between Science Exchange and the Center for Open Science. The goal of this project is to take nearly forty “high impact” papers in the field of cancer and try to replicate them. 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

By listening to him, you wouldn’t know that Peter Maag, the CEO of CareDx, was fighting to keep his company from the brink. We booked Peter for the show after news came out that CMS was once again threatening to lower reimbursement rates of established diagnostic tests. 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

Today’s story is one of a personal quest, of groundbreaking science, and the creation of a new movement in human genomics.Jim Lupski is a professor at Baylor College of Medicine where he’s on the frontline of incorporating genomic research into everyday clinical practice. The story begins with Jim’s own genome, which is perhaps the most sequenced genome ever. Jim's life as a leading genomic researcher has been driven in part for a strong personal reason. He has a rare genetic disease named after three researchers who first defined it, Charcot Marie Tooth Neuropathy. 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

Cliff Reid, CEO of Complete Genomics, is back on the conference circuit, touting a new product. After years of building his company to do sequencing as a service, Cliff presented data at last week's ASHG meeting on Complete's first sequencer as a product, or what they are calling the Revolocity supersequencer.Cliff was a pioneer in developing the service model, offering only whole human genome sequencing. But after being bought out by BGI, who already had a service business in China, he was compelled to shift his business model to that of selling sequencers. 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