Mendelspod Podcast

The title says it all here. Herr Professor Schultze directs a major facility that he calls a single cell genomics platform. They have most of the single cell technologies available and partner with labs from all over the world on research. Advances in single cell technologies are changing basic research and also delivering results for translational work in everything from immunology to obesity. “Biology will never be the same again,” says Joachim.

We ran a series this summer highlighting one of the major issues in biomedical research: that the collection, storage, and procurement of biospecimen samples lacks any across-the-board governing standards. Various institutions adopt their own regulations resulting in a checkerboard of quality assurance, and by extension, an unknown effect on the outcomes of research. Our first guest called it “garbage in, garbage out.” (See links below.) This should send shudders through anyone doing research with any human tissue sample.

And here we were thinking it was a slow month! We have two big stories today: first this philosophy of biology question about whether it’s a bad thing that we’ve been stuck circling the wagons ‘round the same ole genes. Is it just an economic question? Or is it that these are the most active genes, and so we need a meritocracy, as Nathan puts forth?

Vivek Bhalla is used to the question, what’s a nephrologist? When we admitted we’d never had one on the program, he made his own admission, saying that the kinds of people who became nephrologists are the kinds of people who don’t seek out the limelight. But Vivek, an assistant professor of medicine at Stanford, is changing that and speaking out on behalf of his profession. And he’s very excited about what single cell sequencing has done for the study of the kidney.

She's been a highly sought after venture funder and knowledge broker in the field of digital health. STAT News wrote that upwards of 1,500 pitches crossed her desk last year at GE Ventures. But as of a couple weeks ago, it's a desk at which she's no longer sitting. So what's she up to next?

We like talking to the folks at the Personalized Medicine Coalition (PMC). They have many stakeholders and multifaceted speakers on a wide range of topics. Recently they’re open to talking more about DTC testing—as are most of the traditional diagnostics community. (In our most popular program of the year, CEO of Invitae, Sean George said back in May that the clinical community must “coop” with the rapidly growing DTC movement.)

It’s our first show back after the summer break, and nothing has got us all buzzing about genomics again like a polygenic risk score. It even has Laura Hercher talking about the Human Genome Project doing some delivering, god forbid. CRISPR has had a rough summer. But still . . . it is CRISPR. Is Burning Man still cool, we were asked last weekend. Don't know. Don't care. We asked back, is 23andMe still cool?

For the next episode in our summer series on human tissue sample quality and biobanking, we turn to a veteran biobanker in the U.K. who managed several projects there including the U.K. Parkisons’ Disease Society Brain Bank at Imperial College. Today we talk to Kirstin Goldring, Principal Scientist at Astra Zeneca where she’s in charge of Human Biological Sample Strategy and Governance. Kirstin is a counselor at the European Society for Biopreservation and Biobanking and also a member of ISBER or the International Society for Biorepositories.

As long as we’ve been doing clinical genetics, the goal has been to marry up the genetic data with phenotypic data in the electronic medical records. This has been achieved with some success and with a few of the best genetic markers at some of the leading healthcare providers: Geisinger, Rady Children's, Brigham and Women’s—to name a few. But it hasn’t happened at scale, at least not in this country. Some of the national health services around the world are making the dream more of a reality, for example in Iceland and the U.K.

A book like this only comes around once in a while—one never knows from which corner. This time it was written by the CTO of a next gen sequencing data analytics company. “Every one of these cases was intense. It was just so fascinating that I had to put it down in a book and tell the story. There’s so much in biology that boggles your mind and makes you wonder.”

When former President Obama’s team released the paperwork for what’s become the All of Us Research Program, in the part about biobanking, the wording specified that the biobanks applying for the grants be “CLIA compliant.”

It seems to be human nature to value and pay up to hundreds of thousands of dollars for a little white pill that we can drop on the floor--and granted, can do wonders for us, but we want to pay nothing or very little to be told what is wrong with us so that we might know which little white pill to use in the first place.

It’s a question we’ve asked on the program before. Are we over relying on the genomics route getting us to biomedical research paradise? Should we be putting more eggs in other baskets? After combing through lots of clinical trials data, Tony Letai of Dana Farber and the Broad, found that a majority of cancer patients have not benefited from precision medicine. On today’s show he says we need to rethink our approach to cancer research and treatment.

She’s a force of nature, and she’s back on Mendelspod. A decade ago, Carolyn Compton was hired by the NCI to solve a problem that has plagued the world of not just cancer research, but all of biomedical research. To this day, there are no standards in place for the acquisition, collection, storage, and delivery of human biological samples used for research. The leader of the NIH has acknowledged that this is a major part of biology’s non-reproducibility problem.

Nathan Pearson and Laura Hercher are back for a look over a busy month of headlines. May took us into the era of the free genome as Geisinger planted the genomic medicine flag on an even higher peak. And did you know California was keeping a genetic database for every baby born? Meh. . . says Laura. Every state does it. Old news. And mosaicism is old scientific news, says Nathan, but he likes the way Carl Zimmer brings it to light in a new book. Nathan and Laura then go above and beyond with their own elucidation.

If you’ve been in the field of genetic testing then you know about the Greenwood Genetic Center. With an address on Mendel Circle in Greenwood, South Carolina, this non profit diagnostic testing laboratory has basically written the book on diagnosing and understanding genetic disorders. Chances are, too, that you know the director of their cytogenetics lab and our guest today, Alka Chaubey. Her hunger for meeting new people and learning new science is matched only by her desire to share the Greenwood legacy.

You know him, but do you know what he does for a day job? Over the past two years, Nathan Pearson has dazzled us with his broad knowledge of the genomics space on our regular monthly reviews. Today we’re talking to Nathan about his new company that he soft launched last December, Root Deep Insight, a venture into what he calls “direct-to-lay folk genetics.”

"In a world turned upside down, this is an area where I don’t think he’s had much effect. I don’t think he knows how to spell “DNA.”" So begins Hank Greely in today’s interview on genetic testing in the age of Trump. Hank is a Professor of Law and, by courtesy, Professor of Genetics at Stanford.

A few years ago they were the new kid on the block, and now they are a leader of mainstream genetic testing. Last year their revenue and profit were significantly up. And yet in today’s interview, CEO Sean George does not sound like someone sitting back on his laurels. In fact, he says his business model has got to change.

After decades on the loose, it’s cool the cops finally caught him. But is it cool how they caught him? Nathan Pearson and Laura Hercher are back for April’s headlines. AACR had some more good news about Keytruda, and we take a look at the cancer prediction space. DNA Day, the first cannabis based therapy to be recommended for FDA approval, the Zuckerberg hearing—there’s lots in here today.