DTC testing

23andMe occupies its own place in the world of genomics. Known for its vision to democratize human genomic information, the company has always gone big and bold, and sometimes controversial. Today we don’t hear much controversy—is that because their approach has won out? In any case, they have certainly achieved a scale that surpasses any other genetic testing company.

It is this scale which has attracted Amy Sturm, a return champion here on the program, who formerly ran the genomic counseling and screening program at Geisinger Health Systems to join the team at 23andMe as their Director of Population Health Genomics. This is a new position created for Amy and is part of a new initiative the company has begun to connect the dots for customers with the genomic health data they receive in their 23andMe reports.

Amy says that the final “code” in translating genomics has not quite been broken.

“We want people to access, and understand—which I think we’ve accomplished those two— but then also benefit from the human genome. We’re working on the mantra, 'no dead ends.' We’re developing the clinical connection for individuals to take that report and keep themselves healthy, keep their children healthy, and utilize the insights. Honestly, it’s still one size fits all out there. So that’s the big picture vision, and doing that not necessarily in siloed genetics clinics, but integrating it directly into primary care.”

That last part is where it gets interesting. The company is investing in infrastructure—they bought a company, Lemonaid Health, in 2021— to be able to give clinical follow-up directly to their customers. Today, Amy lays out this ambitious new direction for the company and shares her thoughts on an industry in flux.

Lisa Alderson has been helping to build genetic testing companies for a while. In 2016 she co-founded her own company, Genome Medical, a tele-genomics firm to help patients and providers understand genetic testing results.

Anyone in the genetic testing industry will know that Genome Medical’s offering addresses a burning need. As Lisa remarks in today’s show, genetics is complicated.

“Not all tests are created equal,” she says. “There are big distinctions between the tests available on the market. And it can become quite confusing for the average individual to understand what is even being tested.”

Lisa is partly referring here to the DTC market versus the medical testing market. She gives the example of the BRCA genes. Some genetic testing companies do a very “light” testing, some companies go deeper, and some even deeper. When consumers/patients get one of these tests, do they know which one?

What does Lisa think of the recent downturn in DTC testing and the move by some of the DTC companies to pivot over into health testing? What other trends is she seeing from her vantage point as an educator in the field? And how savvy is the average American when it comes to genomics today?

What do we actually know about the novel coronavirus, we ask our two monthly commentators at the outset of February’s review show. Then, speaking of pandemics, as Bernie fever sweeps America, we explore the charge that Medicare for All means an end to innovation.

Laura gives an update on the status of the genetic counseling bill, and Nathan comes to us live from AGBT with highlights from Marco Island.

“To be fully honest, I think some of these tests are scary tests. I’ve had the luxury of testing myself . . . some of this needs to have the physician and the genetic counselor involved.”

That’s Pouria Sanae, a newcomer to our field via Yahoo and Helix. He’s also a Swede which gives him a fresh perspective on American genomic culture. Last month Pouria and his co-founders launched ixlayer, a new platform that integrates many of the players in the genomic medicine space: DTC companies, clinical labs, and physician/providers.

Pouria’s big vision here is close to the familiar dream of bringing genotype and phenotype together that we’ve heard on this program before. Maybe this outsider will pull it off in a big way. His approach is bold and comprehensive. Obstacles he’s facing?

Health data is more sensitive than anything he's encountered before. And there is not the same “buy in” in the healthcare space that he saw in software.

But as he asks, “isn’t this something we need to do?”

23andMe lays off over 100 employees. Illumina comes to the JP Morgan empty-handed. Has Precision Medicine seen it’s heyday already? Or are we gearing up for another wave of innovation? Nathan and Laura are again ready for the tough questions of genomics.

We begin with the current spat between genetic counselors and the ACMG. Like, . . . huh?

Just in time for Black Friday, Ancestry.com has launched new health testing. Thanksgiving week (the company calls the shopping holidays the “Turkey Five”) has been kind to what is the largest DNA testing company in the world. Back in 2017, their ancestry test competed with the Instapot for Amazon’s top sellers on the biggest shopping day of the year. To date Ancestry has sold over 15 million DNA tests.

Ancestry’s approach with the health testing shows that they have learned from the field's fumbles: the new tests, which will deliver “actionable health and wellness reports,” will be available to consumers but ordered by an independent physicians network and supported within the health ecosystem.

Sarah South is here to talk about the new rollout. She's the VP of Laboratory Science at Ancestry DNA. Her CV itself gives a clue as to the smart way Ancestry is going about launching this product. She was previously the VP of Clinical Lab Operations at 23andMe and before that the Lab Director at ARUP Laboratories.

She argues that there is a level for what she calls "opportunistic" testing between the more comprehensive "rule out" testing that clinical labs do, and the level of . . . well, doing nothing.

“We don’t need to have everything in the “rule out” bucket. There are times when I might like to have an “opportunistic” finding. I'm not currently experiencing any symptoms. I don’t know of a strong family history. But I know that there are things that may be subclinical right now. And if I knew about them, I could do something about them. For example, our hereditary hemochromoatosis offering, or the predisposition to develop iron overload. Most individuals are subclinical until they are in their 40s or 50s. But the risk is that if you wait until you are clearly having clinical symptoms, the damage to the liver may be irreversible. ”

Sarah gives other examples of the actionable health variants as well as wellness offerings.

What about the charge often put to 23andMe that these tests are not complete enough but give consumers the impression that they have been completely tested, such as for BRCA. Sarah is on to the answer before Theral can ask it.

She also anticipates the future of health testing in the age of polygenic risk scores.

Join us now for our first interview with Ancestry.com.

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.

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.

"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.

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.

Brianne Kirkpatrick is a genetic counselor and founder of Watershed DNA who has built up her own practice specializing in genealogy and ancestry testing. She has been helping those of us who found out our father was not our biological father. She’s been crisis counseling those of us who have just broken up with our half sibling. She’s been laughing with those of us who are deliberately looking for a DNA test that might help us find a different family than the one we have!

Is there any turning back from this onward rush to abandon genomic privacy? How will it change our culture? Brianne says it is certainly the new reality, and it will tilt power toward the younger generation.

Ever since we’ve been sequencing DNA, we’ve been readjusting our expectations of how deterministic it might be in our lives, often adjusting downwards. But as the recent wave of “family surprises” is showing, genealogy is one area where, for some, DNA is proving to be destiny.