DTC testing


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.

Family Surprises Care of the Home DNA Test with Brianne Kirkpatrick

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.

February 2019 Review with Nathan and Laura: Family Surprises, IQ Profiling, and Chinese Surveillance

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.

January 2019 Review with Nathan and Laura: Cloning, CRISPRing, DTC, and Paleogenomic Overreach

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.

Ellen Matloff on a New Digital Genetic Counseling Product for DTC Customers

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.

September 2018 with Nathan and Laura: Studying the Same Genes and the Matt Fender Story

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.

Concerned About DTC Test Quality? Ask Two Questions, Says Daryl Pritchard, PMC

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.

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?

A Seqster Preview with Founder Ardy Arianpour

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.



New to Mendelspod?

We advance life science research, connecting people and ideas.
Register here to receive our newsletter.

or skip signup