Mendelspod Podcast

After the summer break, Nathan and Laura, stir from their beach slumbers, to again offer their anything but sleepy opinions on the latest genomics headlines.

Cathy Smith counts herself among the Gleevec Generation after the landmark targeted cancer therapy. She’s an optimist who believes in the possibilities of precision medicine. “We are outsmarting cancer,” she says. Cathy is an Assistant Professor of Hematology/Oncology at UCSF where she is also an MD treating patients. Her area of expertise is in acute myeloid leukemia or AML. She joins us today to discuss a recent group paper and collaboration using new technology to track and monitor cancer evolution at the single cell level.

As another summer winds down, another flu season approaches. Yuuuk. When will we be able to stop living in fear of that crowded plane flight in winter months or waking up congested and wondering . . . dreading, “am I coming down with a cold?” Yes, we get that annual flu vaccine shot, but each year we still get the bug. Until now, a real universal flu vaccine has eluded drug makers, and having the flu goes on being just part of life. But it doesn't have to be.

Synthetic biology is experiencing a second renaissance and the place to be this October 1-3 is at the SynBioBeta conference in San Francisco. For those of you who are going, today’s show is your preview. For those of you who need a nudge, just listen to what conference founder, John Cumbers, has conjured up in this biggest and most diverse lineup yet.

Some Americans still resist genetic testing for fear they will be discriminated against by insurance companies. Why? in 2008, Congress passed GINA, the Genetic Information Nondiscrimination Act, to protect us from insurance companies choosing to include us or not for policies based on the genes we came with. Then in 2010, Congress passed the ACA, or Affordable Care Act, and with it protection against preexisting conditions. This includes genetic predispositions.

It’s the kind of plot that makes great science. There are genes that have been hiding in plain sight, undetected until now. They’ve gone unseen, that is, by short read sequencing. Today’s guest and his colleagues call them “camouflage genes,” and a couple in particular may play functional roles in Alzheimer’s disease. Mark Ebbert is an Assistant Professor of Neuroscience at the Mayo Clinic where he is using long read sequencing technology and computational biology to study neurodegenerative diseases, including Alzheimer’s and ALS.

We’ve interviewed several CEOs over the years since the Theranos fiasco who avoided any mention of the blighted company whenever the comparison came up. But today’s guest, Murielle Thinard McLane, the CEO of Ontera, jumped at the chance before Theral could get to it. "Some people might say, well that's the Theranos model. They (Theranos) didn't get it wrong. The demand for a fast, comprehensive point-of-care solution near the patient is there. Where they got it wrong is that you need a technology that is sound to do that!"

If you’re not on the long read sequencing train, you’re not landing in the world of genomics. A new paper out begins, "Structural variants contribute greater diversity at the nucleotide level between two human genomes than another form of genetic variation.”

The great promise of liquid biopsy technology is in early cancer detection. That is, it's the great future promise. Right? This past month at the annual cancer conference, ASCO, we heard about one such flagship company announcing just which technology they were going to use to do it--DNA methylation.

Nathan and Laura join Theral for our final review show before the summer break. Have you already headed out on vacation? Take us along and stay current with the top stories in genomics. This month it's gene patents (yes, Congress is really reviving that debate), another gene therapy with another astronomical price tag, and remembering Dr. Henry Lynch of Lynch Syndrome fame.

Those of us watching every shift in the level of adoption of genomic medicine have our eyes closely glued to Geisinger Health System in Pennsylvania. Adam Buchanan is the Co-Director of Geisinger’s MyCode Genomic Screening and Counseling program, and today we talk to him about the rationale of making genomic screening part of routine medical care.

Our two reigning champions are back for a month packed with news. It’s Nathan Pearson of Root and Laura Hercher of Sarah Laurence College and Host of The Beagle Has Landed Podcast daring to go where no genomics commentators have gone before.

Storylines repeat in genome science every decade or so. The human genome is complete. No. Now it's complete. Or, in the 90's, it was first announced that the first chromosome was sequenced. We have the same story for you today--breaking news from a paper that has not even been published yet: the first “complete” assembly of a human chromosome, end to end, telomere to telomere. So what’s going on?

"DTC is now too big of an arena to put everything in the same bucket.” This was a line from Laura Hercher, one of our monthly commentators a couple shows back. The statement made its way around Twitter, so we thought we’d have Laura back to the program and ask her to come up with some more buckets. It turns out it’s not that easy.  Direct-to-consumer genetic testing is a dynamic and complex space in 2019, a mishmash that quite defies easy categorization.

Today we're joined by Matt Plavan, President of Arcadia Specialty Genomics. The last time we talked with someone from Arcadia Bioscience, a biotech company working on plant genomics in Davis, California, they were confronting GMO regulatory hurdles. Which was a pity. They had created these great new strains of rice and soybeans, among other crops, that were being held from market due to regulations in Southeast Asia. This at a time when world population is . . . well, you know what its doing.

April was a tough month for some genomics companies. The FBI raided the offices of uBiome and two other pioneers in the field failed. Are there broader implications? Nathan and Laura have returned to first give us some facts and then to throw their hats in the ring. Lots happened this month in the world of DNA. Tune in and catch it all.

Two years ago Veritas Genetics began offering whole genome sequencing for a thousand dollars. It was a significant milestone—and still is!—not only for what it means about the company providing the genomes but also what it means about the demand for such a product.

There are drug trial failures. And there are drug trial failures. The recent move by drug giant Biogen to halt their Alzheimer’s drug has not only been a setback for the company—their stock fell precipitously on the news—it’s also been a major setback for the whole research community focused on this disease. The Biogen trial was one of the last of the major drug companies with high hopes for a significant therapeutic step forward for the neurodegenerative disease. The last five years has seen one big pharma players after another throw in the towel.

You order a $99 home DNA test for some holiday pleasure. It’s a bit of fun. Right? Until it turns your life upside down. Which is when you contact a professional.

From recovering DNA on hundred year old envelopes to bringing it to life from 28,000 year old wooly mammoth samples, it's our genomics version of March Madness. Join Theral, Nathan and Laura for another monthly look back over the headlines.