DTC testing


Genetic Testing is Dead, Long Live Genetic Testing: Sean George of Invitae

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.”

April 2018 with Nathan and Laura: Golden State Killer and the Cancer Prediction Space

After decades on the loose, it’s cool the cops finally caught him. But is it cool how they caught him?

Nathan Pearson and Laura Hercher are back for April’s headlines. AACR had some more good news about Keytruda, and we take a look at the cancer prediction space.

DNA Day, the first cannabis based therapy to be recommended for FDA approval, the Zuckerberg hearing—there’s lots in here today.

March 2018 in Genomics with Nathan & Laura: DTC BRCA and Revisiting All of Us

23andMe steals the headlines yet again.

“If somebody is worried about breast cancer susceptibility in their family, they should certainly not be using this test.”

That’s our monthly commentator and genetic counselor, Laura Hercher, talking about BRCA going DTC. But wait a minute. Then she says the test could be good in some instances.

Fellow commentator Nathan Pearson cracks us up with his new term for the NIH’s All of Us Research Program. We question the big science project after the New York Times reveals that several major institutions, including Geisinger and Kaiser, are pulling out.

It’s Nathan and Laura back to offer their inside take on the lead genomic stories of the past month.

And no matter what, we won’t mention 23andMe again next month. We hope.

Eric Schadt and Sema4 Try the Consumer Model with Newborn Screening Panel

"We like to refer to it as consumer initiated, but physician supervised,” says Eric Schadt today when asked if his new test is direct-to-consumer.

Eric is the Dean for Precision Medicine at the Icahn School of Medicine at Mount Sinai in New York and since 2016 has served as CEO of Sema4, a spinoff that he founded out of the Mount Sinai Health System. Sema4 launched a newborn screening panel, Sema4 Natalis, in February of this year covering over 190 disorders.

With 400 people already employed, Sema4 is based largely on genetic testing, data science, bioinformatics, and software development teams that were built up at Mount Sinai prior to the spinout. New panels will be marketed directly to parents around the country, many of whom have already bought other prenatal screening tests from Sema4.

From 2011 to 2017, Eric served as the Founding Director of the Icahn Institute for Genomics and Multiscale Biology at Mount Sinai. He says he founded Sema4 to achieve a greater scale than could be had within a single hospital system. For him and Sema4, the end game is to "partner with" tens of millions of patients for ongoing studies. He calls it his "growth hack" strategy.

The Natalis panel is a practical place to start. Many of the additional rare childhood disorders that expand the panel beyond the conventional heel prick testing of 30-50 disorders are the result of new research and the latest technology and are a no brainer. This will bring some uniformity across states. And the new testing can be done from a cheek swab rather than the more invasive heel prick.

Still, some argue, Sema4 Natalis really amounts to doing research on parents. For the panel includes cancer risk tests as well.

Does Eric plan to do any follow up studies with parents? Mount Sinai is the sole owner of Sema4. Has any other major healthcare provider made a play similar to this?

February 2018 in Genomics with Nathan & Laura: 23andMe Goes for the Gold, Trump Year One

Booking 26 million viewers, the voice of Warren buffet, the endorsements of Olympians Joey Cheek and Tara Lipinski—this company was going for the gold with their ads during the Olympics this year. Of course, we’re talking of the direct-to-consumer genetic testing company, 23andMe. What was the take of our monthly commentators, Nathan Pearson of Root and Laura Hercher of Sarah Lawrence College?

Also, for all the doomsday predictions, has Donald Trump been any worse after one year for our industry than the biohacker?

Join us for this month’s look back over the headlines.

Sharon Begley of STAT News on the Best of 2017

Sharon Begley joins us for our last show of the year to look back over some of the year’s top stories. She’s the senior science writer at STAT News where she covers genetics, cancer, neuroscience and other fields of biomedical research. Prior to joining STAT, Sharon was the senior health and science correspondent at Reuters, the science columnist at the Wall Street Journal, and the science editor at Newsweek.

If you’re in genomics, you’ve no doubt found yourself reading one of Sharon’s columns. Her range is astonishing, her depth shows years of insider knowledge, and her output prodigious. She managed to write an article on George Church this year that no one had written before. Not easy.

Sharon says her audience has a big industry component and certainly includes people with special interest in the life sciences but it’s also for “ordinary human beings . . . people who go to doctors, who’s friends and loved ones get sick.” That Sharon’s articles can be read by anyone, but are of interest to insiders, makes her a great guest here on the program to see how many of our stories make it out to a larger audience. For instance, in this year when 23andMe’s test rivaled the InstantPot for top seller at Amazon, what does the average person think of genomics in 2017?

In answer, Sharon says that the typical American tends to be a genetic determinist, gullible for any genetic association that comes along--this despite being overwhelmingly religious. Does that mean she proactively takes on the role of pushing back with skepticism?

November 2017 with Nathan and Laura: The Stem Cell Story We’ve All Been Waiting For and a Sea Change for DTC Testing

It didn’t take long to come up with our lead story for November’s month in review show. Looking at the pictures of the boy in Germany playing soccer after successful treatment of his rare skin disease is just the kind of images we had in mind when we first heard of stem cell therapies.

The bulk of our discussion moves on to the incredible bullish drive of direct to consumer testing this year, sparked by a decrease in sequencing costs and a favorable political climate. However, this month FDA commissioner, Scott Gottlieb, showed his cards on the topic of DTC testing as well as LDTs in general, surprising many of us.

Laura says the FDA announcement reflects a “sea change” in that the FDA plans to regulate not “test by test, but the testers.”

Nathan cautions that this policy will encourage companies who already have their FDA clearance based on some sound diagnostic tests to then “down the line put out a test that is much more speculative, based on shakier science.” He says this will privilege the bigger companies who are already established in the space over small innovative companies.

It’s November’s genomic headlines with Nathan and Laura.

Turning on Your DNA with Justin Kao, Helix

They’re getting a lot of buzz this week. We’re pleased to have Justin Kao, a co-founder of Helix on the program today for the first time.

Launching formally yesterday, Helix has generated a good amount of enthusiasm—in no small part because they raised $100 million and are backed by Illumina. And the Helix business plan is definitely a bold one. They aim to become the DNA testing platform that supports and partners with direct-to-consumer (DTC) and clinical apps, offering genomic tests that are both medical and non-medical. Helix's part is to collect the samples, do the sequencing (exome plus), and be the app hosting platform.

23andMe co founder, Anne Wojcicki, said once on this program that “DTC testing is a whiplash culture.” This year, with a lighter hand at the FDA during the Trump administration when it comes to genetic tests, entrepreneurs are showing more boldness. This is one of those leaps forward.

“Consumer interest in DNA is exploding,” Justin says today. “The genealogy industry itself has been doubling every year for the past few years.”

Justin lists some of the app partners with which they are launching, and says they will soon be adding more, including a partnership with the clinically focused, InVitae. He says Helix has a CLIA certified lab and has been working with the FDA since they began.

Is there an inherent conflict in the attempt to host both medical genomic tests—such as the 59 ACMG recommendations--and tests that help us pick the right scarf or wine? According to the vision of Helix, DNA is DNA.

Justin compares the Helix platform to the basic enabling technology of GPS.

“What if I said to you, I’m going to the gym, and I’m going to do my standard 30 minutes on a treadmill because that’s what everyone does? In a few years, you’re going to turn to me and say, ’well that’s odd, your body and my body are different. Don’t you turn on your DNA?'"

Green Light for DTC, Blood Mammograms, and Ancient DNA: April 2017 with Nathan and Laura

For genomics nerds, April 2017 will be remembered as the date when the FDA adopted a more open policy towards 23andMe and direct-to-consumer (DTC) genetic testing. What does this decision mean, and just where is the FDA drawing the line? A genetic counselor herself, Laura found the decision “head turning.”

“There’s lots of reasons why some genetic counselors are not going to be thrilled to deal with everyone’s 23andMe results,” she says.

For the “cool new studies” section of today’s show, Laura is excited about a research project announced by Grail, a spinoff from Illumina working on a pan cancer screening test. And Nathan points out that the trend for researchers to look back at ancient DNA sharpened this month with two new studies that not only open up the possibilities for historians and archeologists but also have relevance to human health longterm.

“We’re getting much better at doing it,” he says. “So look for more of this ancient meta genomics where we can find little fragments of DNA outside of cells but intact in sites like soil. They’re very diverse, but we're starting to figure out really what was going on at a place some time in the past."

We finish with a couple stories that are giving pause to researchers working on gene therapy and immunotherapy.

It’s commentators Nathan Pearson and Laura Hercher joining Theral to talk genomics for April.

39andRufus: Genetic Testing for Pets

Inside Edition reported this week on the availability of genetic testing for dogs.  But the tests mostly serve the purpose of upsetting owners who find out that their man's best friend isn’t the pure bred man's best friend they thought it was.    We did some research and found some genetic testing for dogs and other animals that had pet owners much more enthusiastic.

Dogs



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