DTC testing

Our two favorite commentators are back for our February 2019 month-in-review show, and to give our own twist to Valentine's Day celebrations we take on the topic of family surprises due to DNA testing. This is a phenomenon taking the world by storm in 2019. The Boston Globe had a great headline this past week, "First came the home DNA kits. Now come the support groups."

The month began with the New York Times's Editorial Board issuing a rebuke of 23andMe's cancer genetics testing. Nathan says it's similar to the paper's tech consumer reports section giving a bad grade. Theral says, no, it's the press filling in for a lax FDA.

Laura joins her colleagues, the authors of a STAT opinion piece, in raising alarm over the possibility of companies soon profiling for high IQ in the preimplantation genetics arena. She also questions whether Thermo's move to stop selling sequencers to one small region in China to protest surveillance by the state can be anything more than a PR stunt. "Don't they have trucks in China?"

Join us for another monthly romp through the genomics headlines.

Nathan and Laura are back for the first time this year for a wild trip past cloned CRISPRd monkeys and the first gene drive in mammals. (Just that?) But first we have to deal with our hangover from the end of last year.

We talk DTC and end with a discussion of the ancient DNA controversy.

If Mendelspod had an annual Product of the Year award, we'd certainly be liking for 2018 the one featured today, a digital genetic counseling product for direct-to-consumer genetic testing.

Hats are off to Ellen Matloff, a genetic counselor formerly at Yale who saw the DTC boom coming a few years ago, busted out of academia, started My Gene Counsel, and last month launched her first digital product.

We can sit and pontificate about the pros and cons of giving consumers access to DNA tests based on limited scientific studies and with little to no FDA oversight, but Ellen is taking action on behalf of consumers who are every day getting this information. She is offering them basic help as they sift through those reports and what can be frightening data.

The big question here: how to let all those consumers buying up DNA tests on Black Friday know about this resource?

As for 2019, Ellen says it’s figured out. She’s singing in the Super Bowl.

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?

As if on time to answer this question, there’s a new project out this month to synthetically engineer 4,000 copies of a very studied gene, BRCA, which has Laura and other genetic counselors excited. As she explains, it will help with the problem of reducing variants of unknown significance.

And second, we discuss the fallout of Laura’s tour de force article in the New York Times and follow-up Beagle podcast about a young web developer, Matt Fender, who had a real scare with his 23andMe data. Theral says the story sounded an alarm at just the moment many of the field's KOLs are becoming relaxed about regulating DTC tests. Nathan says the story shows that the system is working.

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.)

There are serious quality problems with DTC testing as many mainstream media outlets have confirmed in publication after publication. Today we ask Daryl Pritchard, Senior Vice President of Science Policy at PMC what he makes of the rapidly growing DTC testing industry, and how he thinks the problem of inconsistent results might be handled. Is this something for the FDA?

A core question of late for PMC by their stakeholders has been whether gene panels have shown cost effectiveness over one-off gene tests. Daryl discusses the results of a study he presented at ASCO this summer comparing the two.

We finish with a discussion of the state of personalized medicine mid-year 2018.

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?

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.

There is a movement, however, growing particularly strong in the current politics of deregulation for consumers to do it themselves by managing their own EHRs, genetic, and fitness data together in an online account similar to their financial accounts. Today we talk with Ardy Arianpour, the Co-founder and CEO of Seqster.com, a site recently out of stealth now offering such a service to early access customers.

If the business model of sites like Seqster is dependent on big pharma buying up the collected data in high numbers for their own purposes, what will make a certain platform "the one" or one of "the chosen few?" Indeed, as more and more private companies swarm to be this service and gather our private medical data, what will give us consumers the trust to take part?

“It’s already happening unidentified. So why not be fully transparent: involve the participants, the users, the patients so that they can collect, use and share their data on their own terms? All we’ve done [at Seqster] is created a technology that has that mission for its members,” says Ardy.

Followers of Mendelspod may remember hearing Ardy on the program from his days as Chief Strategy Officer at Pathway Genomics. Prior to that he served as Senior Vice President at Ambry Genetics which last year sold to Konica for $1 billion.

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.”

Nathan had a not undramatic debut in our field on the TEDMED stage with Ozzy and Sharon Osbourne interpreting their genome when he was at Knome. He would go on to become a lead scientist at Ingenuity and then a director of public outreach for the New York Genome Center.

In our show today, Nathan traces back his passion for unleashing the power of the genome to his childhood when he lost his mother to leukemia. He feels that had his mother had access to the greatly expanded bone marrow donor registries and involved patient data sharing options that we see today, the possibilities for her would have been much different. He’s driven by those possibilities for other patients.

Nathan is a bone marrow donor volunteer. And he found a few years back that he can ask for his genomic data back from the registry. Particularly his HLA data. All bone marrow donors can. But this data comes back undecipherable. Enter Root Deep Insight. Their vision is to make all this free data not only available but readable and valuable to the donors, or those who might volunteer to be donors.

Is this DTC? Yes, a new kind. First of all, it’s free.

“We’re learning the lessons from consumer genomics. HLA can already tell you really fun things, not just about your ancestry—and it really goes quite deep there—but important things about potential drug responses, for example.”

We get to other questions. What role does the genomicist play in society today? Do they look at the rest of us as just walking data points? And what are Nathan’s thoughts on the new generation of block chain companies such as Nebula and Luna?

It’s Nathan Pearson for an hour.

"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.

The first order of business today is the boom in DTC testing. Hank is actually pretty cool with this, including the new DTC BRCA testing. He expresses some concern with Sema4’s recent newborn screening panel which he calls “quasi DTC." He is very happy with the current FDA director and thinks that the FDA is treating DTC the way they would have in the previous administration.

“There’s been an evolution, not a revolution."

So what’s turning Hank’s crank these days? Well, remember that article out in Tech Review a few weeks back about our genes predicting our intelligence? Hank is starting to wonder if the science really is that good. No. Really. He’s also feeling a bit chagrined about liking the bio hacker more than he should.

He’s funny. He’s thoughtful. And he’s on your speakers right now. Hank Greely for 36 min. Enjoy.

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.

We expected Sean to push back against the recent approval of 23andMe’s direct-to-consumer BRCA test and the recent boldness of the DTC space in general, but he surprised us with a welcoming attitude toward his “coopetition.” He says that the DTC companies are providing general education in genetics to the public.

“It’s tailwind for us.”

When asked if they would ever consider going direct to consumer, Sean said that Invitae has already been piloting a broad comprehensive genetic profile for healthy people and has plans to launch it to the general public in the future. All of their tests, he emphasizes however, must be ordered through physicians.

Sean goes on to lay out his vision for the business model of the future.

"The model of single $3,000-$5,000 tests is clearly dead. It does not work. The companies do not scale. The value is there. It’s disappointing to me that it doesn’t work. But people are not paying for it. So our view is you've got to go at it the other way. Let’s unlock it. Let’s make it a utility in healthcare.”