genomic medicine


Early Cancer Detection: Is This Company Ahead of Grail?

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.

Well . . .it turns out there is a company, Laboratory for Advanced Medicine, that has been using DNA methylation for their liquid biopsy early cancer detection tests for a couple years already. Tests which are for sale now. On their website, they say they are "saving lives by detetecting cancer early." Presenting data for their technology back in 2017, the company offers two liquid biopsy tests commercially: one for liver cancer and the other, a broader test which confirms that a patient has a cancer, either lung, breast, colon or liver.

“This general test has clinical utility because often times the physician and the patient might have a concern about cancer because of symptoms. The physician has done other tests and eliminated other ailments, and the patient and physician have come to a working hypothesis that maybe the patient has a particular type of cancer. And so they do this test with us, and we report back with high accuracy that, yes, they do have a cancer or, no, they do not.”

Richard Brand, the CFO for Laboratory for Advanced Medicine, reviews with Theral the company’s tests, telling of several use cases over the past couple years and previews the tests on the horizon. The company looks to be ahead of the pack in a growing field.

Detective Stories from the Genomic War Room with Ramesh Hariharan

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.”

So says Ramesh Hariharan, author of Genomic Quirks: The Search for Spelling Errors. His new book tells the stories of nine cases he worked on first hand analyzing patient genomes. From the mystery of the author’s own color blindness to a rare childhood disease that took a couple’s two children and left them wondering whether to have another to a daunting instance of abdominal cancer, Ramesh reveals the interplay of three modern industries working at the their pinnacle: molecular biology, clinical medicine, and data analytics.

What makes the book so special is being with a passionate technologist as he discovers his own gift as a writer, to be there when he realizes he can bring the rest of us along on a journey filled with many fantastical twists and turns, dead ends and eureka moments, uncovering the long kept secrets of the human genome. This is different from the product of journalists who get it all second hand. Ramesh's book is personal, a labor of love, rare.

Does it all make him bullish on genomic medicine for the future? He says we’re running out of ideas.

Should Genomic Screening Be Standard of Care? with Adam Buchanan, Geisinger

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.

The MyCode program—which to date includes over 200,000 participants and has returned actionable results to over 1,000 patients—is an "opt-in" program at Geisinger, so it’s not exactly like getting your cholesterol or blood sugar tests which are routine for most of us. But Adam says Geisinger has made it quite “easy” and part of the system.

What exactly is included in the screen, and what genes top the results reports? Are other health systems around the U.S. following Geisinger’s lead? Are there other nations ahead of the U.S. when it comes to genomic screening?

In the middle of the interview, we spend time on population-wide BRCA screening for women 30 and over. Is Adam for it?

At one point, Adam mentions the boom in DTC testing. Is this "self screening", and are health care providers prepared for these patients when they walk in the door?

Laura Hercher on the DTC Genetic Testing Landscape

"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.

But if anyone can do it, it's Laura.  She's the Director of Research, Human Genetics at Sarah Lawrence College, a fearless genetic counselor. And she hosts our sister podcast, The Beagle Has Landed, devoted to the topic of genetic counseling.

We set up the conversation with a short history of DTC testing and end with a question about whether the consumer is becoming more savvy, more knowledgeable about genetic tests.  Yes, she says, but warns that the disinformation campaigns are becoming equally sophisticated.

With her characteristic cut-the-crap style, it’s Laura Hercher talking the world of DTC testing, past, present, and a little into the future.

The Era of the Social Genome with Rodrigo Martinez, Veritas Genetics

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.

Today we talk to Rodrigo Martinez, the Chief Marketing and Design Officer at Veritas and co-author of a recent blog, Next in The Genomics Revolution: The Era of the Social Genome. The blog puts the current offer of whole genome sequencing into the larger context of the history of genomics, compares the availability of the whole genome to that of the personal computer, and anticipates how interacting with our genomic data may begin to shape our lives.

We have two core questions for Rodrigo: What does a whole genome mean to Veritas? And why should one order a whole genome test?

Rodrigo argues that the time of having single one-off genetic tests or even panels of tests has been superseded. Why not get a whole genome test at the same low price, open an online account with all of our genomic information, and have it all there ready for any future interaction?

Veritas offers their product to physicians and to consumers, giving us another perfect chance to continue our ongoing discussion here on the program about the blurring of DTC borders.

It’s our first interview with someone from Veritas. And it’s a lively and long one.  Rodrigo is a deep diver and never short of breath or ideas.  Enjoy.

Genomics and the 2018 Election

The last two years have had us on edge.  It had scientists marching in the street.  That was unprecedented.

So what does last week’s election mean for the genomics community?

Scientists can focus on science

A friend of mine put it this way, “When Obama was in office, I realized I’d been like a cat, relaxed and having my nap in the afternoon. When Trump was elected, I felt like a mouse, always on edge.”

Who Is Misleading Whom About Precision Medicine?

This month the New York Times put out an opinion article that was a reprint from Kaiser Health News written by Liz Szabo positing big doubts about the project of precision medicine. For the Times, it came with the title, “Are We Being Misled About Precision Medicine?” Unfortunately this piece does exactly what it warns against. It misleads.

Putting the headline in question form, rather than declaratory, reveals an insecure thesis. Why not just say it?

It’s the Social Factors, Stupid! Lisa Suennen on Healthcare, Her Career, Digital Health Investing, and . . . Just Being Herself

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?

No, we did not get a scoop here, though we do feel important. This interview was scheduled long before the healthcare venture capitalist, podcaster, blogger extraordinaire made her big break recently with GE. And in fact we’ve always known her for her own brand that goes beyond any employer, that of Lisa Suennen.

August 2018 Review with Nathan and Laura: The polygenic month

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?

Then we found sort of an answer in an old rag purchased last week down at the end of the street: "They rode into town on the cool train. They've been shoot'n it up out here in the Wild West makin' trouble for the sheriff. But now they've become one of the big corporations who hire their own guards to watch o'er their stage coach. They're makin' woopy with the big guys."

Surely it's talking about 23andMe.

Laura says 23andMe's heyday is past. Nathan says, no, their best is yet to come. And then he immediately gets excited about Neanderthals and Denisovan's having a love child 50,000 years ago.

Non sequitur?



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