They’ve been called the “unsung heroes” of our age. They are primarily women. And when the trend for most of us is to become specialists, they have been generalists. Today we begin a special series on genetic counselors. Our first guest, a genetic counselor herself, is a name familiar to our audience. Laura Hercher is one of our regular month-in-reviewers, and today it’s all about her. She is on the faculty at Sarah Lawrence College where the first genetic counseling program was begun in 1969 an...
Jul 30, 2016•22 min
Today’s show with Jonathan Hirsch, the President and co-founder of Syapse begins a couple years ago. We first featured him on the program in January of 2014 with the headline, Is this the Omics-to-Clinic Site We’ve All Been Waiting For? 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...
Jul 21, 2016•21 min
On July 6th, as part of the President’s Precision Medicine Initiative, the FDA issued two new draft guidances for the oversight of next gen sequencing (NGS) tests. The first guidance is for using NGS testing to diagnose germline diseases. In the second, the FDA lists guidelines for building and using genetic variant databases. To help us understand just what the guidance is and what led to its release, we’re joined by Liz Mansfield, the Deputy Office Director for Personalized Medicine at the FDA...
Jul 19, 2016•16 min
Today's guests have been separately on the program recently. And we've asked them, both Brits, to come back on for a discussion of the Brexit. Clare Turnbull is Clinical Lead for the 100K Genomes Project Cancer Program at Genomics England. Hadyn Parry is the CEO at Oxitec, a company based in Oxford which is already selling their genetically engineered mosquitos into Brazil to deal with viral diseases like Zika and Dengue Fever. This is a public episode. If you'd like to discuss this with other s...
Jul 12, 2016•20 min
John Carroll has been the editor-in-chief at Fierce Biotech for thirteen years. Now he's moved to a new gig. Two weeks ago, he and a former colleague launched a new and independent life science media site, Endpoints. 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
Jul 07, 2016•20 min
Today's show was recorded July 1st, the first day that Vermont’s GMO labeling law went into effect. Just how big a win was this for the anti-GMO crowd, we ask our two commentators, Nathan Pearson and Laura Hercher. They have a surprisingly optimistic take, suggesting that the GMO labeling could become a positive marketing tool. 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...
Jul 05, 2016•24 min
Kari Stefansson is a name well known in the field of human genetics. His founding of deCODE genetics in his native Iceland in 1996 took our field into a new frontier with the unique opportunity to work with not only a homogenous population but also to integrate with a large centralized healthcare database. It also surfaced a huge ethical debate about genomic privacy. This is a public episode. If you'd like to discuss this with other subscribers or get access to bonus episodes, visit www.mendelsp...
Jun 30, 2016•36 min
It’s a non-decision with big implications. On Monday, the Supreme Court turned down an appeal by Sequenom in their patent case with Ariosa. The rebuff by the highest court kills Sequenom’s prenatal screening test patent for good. 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
Jun 29, 2016•19 min
You hear it everywhere. And it’s getting old. That "diagnostics is a tough slog.” That it’s the “redheaded stepchild of healthcare.” And today’s guest doesn’t disappoint, repeating both these phrases. But Brad Gray and NanoString can claim some big “slogging" success. They’re coming out on top in diagnostics through some clever business strategy built on a solid platform. Made CEO at just 33 years of age, Brad has taken NanoString public and overseen a successful expansion from the research to t...
Jun 24, 2016•19 min
Today we look back on the genomics headlines over the past month (and a few days). To do this we’re joined by our regular commentators, Nathan Pearson and Laura Hercher. First we take on the science journalism kerfuffle of the year. When Pulitzer Prize winning author, Siddhartha Mukerjee, got epigenetics wrong in his New Yorker piece, scientists came out en masse to denounce it. Nathan reassures us that scientists aren’t afraid of writers. This is a public episode. If you'd like to discuss this ...
Jun 06, 2016•22 min
Last year when we were promised a soon-to-be-on-the-market, pan cancer, genetic based screening test, many of us were taken aback at the hubris. Not only does the science have a ways to go, there are deep ethical conflicts to work through. However, cancer screening based on a patient’s genetics is already being done in certain niche areas. 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...
May 24, 2016•24 min
There’s been lots in the news this past year about liquid biopsies—those non-invasive tests which locate biomarkers in a vial of blood. Much of that press (perhaps too much) has been about using these blood tests for cancer screening: predictive tests that could be available to consumers some time in the future. 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...
May 19, 2016•25 min
One of the original Celera team that worked on the Human Genome Project, Gene Myers is now setting up the new Center for Systems Biology at the Max Planck Institute of Molecular Cell Biology and Genetics. However, unlike many others such centers, the main focus of this institute will not be genomics. Rather Myers is going for microscopy. “Genomics is only about 20% of it,” he says in today’s interview from his office in Dresden, Germany This is a public episode. If you'd like to discuss this wit...
May 12, 2016•25 min
We’ve heard on the program over the past few years that genomic medicine will probably take off first in a country with a centralized health service. And when the U.K. announced their 100K Genomes Project at the end of 2012 with the creation of Genomics England in 2013, it was certainly a bold visionary move to do just that—to put the entire country on a progressive path toward precision medicine for all. So with 10K genomes sequenced, how is the project going? This is a public episode. If you'd...
May 05, 2016•29 min
This month we saw Big Money being infused into genomics and other life science research projects. There’s no question that science is big business, but do we see improved healthcare as a result? Was the NIH too hasty in it’s ban on gene editing of human embryos? Superheroes are lurking among us everywhere . . . or so the mainstream media would have us believe in their take on a new study from the Icahn School of Medicine. This is a public episode. If you'd like to discuss this with other subscri...
May 02, 2016•22 min
We hear from some that soon each baby's genome will be sequenced at birth. This vast amount of genomic information will be stored in a person's medical record for life and be referenced for personalized healthcare, be it for a diagnostic, a prognostic, or a prediction. But others say that it is still way too early to be generating so much information on each person when we know so little about the genome. This camp argues that we should deal with patients on a case by case basis using a more tar...
Apr 28, 2016•33 min
A renewed effort has been underway by leading biologists this year to persuade their colleagues to preprint. This is the posting of a paper to an open access server before peer review and publication. The proponents argue that preprinting will be good for science because discoveries will be made available sooner. The peer review process can take several months, and by preprinting, a biologist doesn’t have to wait to get their work out there and begin interacting with the community. This is a pub...
Apr 11, 2016•26 min
The promise of rational drug design has driven pharma companies for years. The history of the industry has been one of trial and error, or “guess and check”, as scientists often say. Companies have screened thousands and thousands of compounds looking for one that might work—the proverbial needle in the haystack. 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...
Apr 06, 2016•27 min
Which company offers the gold standard of sequencing? Nathan starts us out with a metaphor to compare linked reads with real long reads. Then it’s on to this month’s “knockout paper” that moves us yet further from a deterministic view of genetics. Or is this genomic Jenga part of the “proper design of the Creator”? Laura links a new Indiana law banning abortion due to chromosomal abnormalities such as Down Syndrome to a larger effort by the anti-abortion lobby to go after all genetic testing. Th...
Apr 01, 2016•22 min
Are drug prices really too high? If so, how do we bring them down? Is precision medicine and the use of molecular profiles really making a difference in healthcare today? These are questions that regularly haunt our industry and the journalists who cover it. But there will be no answers until we face the grand question of all, what today's guest calls the most nagging question in medicine: What is health? Today we begin a new series focused on just this question. This is a public episode. If you...
Mar 30, 2016•30 min
When 10X Genomics launched their GemCode sequencing instrument at last year’s AGBT conference, what they offered seemed too good to be true. 10X was promising researchers a machine that could generate long reads using Illumina’s short read technology at a price lower than what PacBio could offer with their “real” long read instruments. A year earlier, Illumina had announced they were buying Moleculo, a company that promised to offer long read data out of the short reads. But good data with the M...
Mar 15, 2016•36 min
Jonas Korlach is a natural storyteller—a rare trait in a scientist who is more comfortable presenting data than talking of himself. Jonas is the co-inventor of PacBio’s SMRT (single molecule, real time) sequencing, and we wanted to hear from him directly how it all got started, and also when the team realized that they had something big with long reads and close to 100X coverage. How many of us can boast of hitting it out of the park on our first try? This is a public episode. If you'd like to d...
Mar 08, 2016•27 min
It’s the beginning of the age of liquid biopsies, when less invasive, regular blood draws will provide more information than the occasional solid tissue biopsy. Companies that offer tests based on circulating tumor cells or cell free DNA in the blood are popping up like genome interpretation companies were a few years ago. As our understanding of biology at the molecular level advances--particularly in the field of cancer research--the more this practical and focused approach for teasing out the...
Mar 03, 2016•31 min
It’s time again to look back on another month with Nathan and Laura. 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
Mar 01, 2016•26 min
If you attended or followed the recent AGBT conference about all things sequencing, you probably saw a few BioNano Genomics t-shirts with the slogan, “Back to the Map.” They’re referring of course, to a genome map. Just like Google Maps, a genome map consists of landmarks that tell scientists where on the genome they are. But unlike Google Maps and more like the maps North America that were made by European explorers in the 17th century, the map of the human genome is quite incomplete, the map o...
Feb 25, 2016•32 min
With constant news topping the headlines about the Zika virus, a synthetic biology company out of Oxford England, Oxitec, has been getting some good press. For over ten years now, Oxitec has been developing their genetically engineered mosquitos as a way to lower virus spreading mosquito populations. 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...
Feb 23, 2016•26 min
We’re all familiar with the announcement in the year 2000 by US President, Bill Clinton, and the UK’s Prime Minister, Tony Blair, that scientists had completed the first draft of the human genome. It was a big deal. But the actual publications didn’t happen until the next year, February of 2001. Which means that this February is the fifteenth anniversary of the publication of the first human genome. For our commemorative show we’re joined by Mike Hunkapiller, the CEO of Pacific Biosciences. This...
Feb 04, 2016•27 min
“It being the month of Hypeuary, go hither through break in yonder wall called LanderGate, and thou wilt be on route to reach the Grail. Drink from this to find your Cure, and Death shall haunt you even more.” -Pithy Monton 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
Feb 01, 2016•20 min
OK, so we get it. Long read sequencing technology is cool. But how cool? Is it another great player on the field, or does it change the game altogether? 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
Jan 28, 2016•32 min
Pharma companies face escalated flack over high drug prices. Meanwhile the diagnostics industry toils away at comparative pennies to the dollar. 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
Jan 21, 2016•27 min
