Mendelspod Podcast

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. 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

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? 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

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. 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

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? 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 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.) 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

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? 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

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. 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 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. 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

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.” 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

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.” 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