DTC testing


Pouria Sanae on the DTC Slowdown and His New Precision Health Testing Platform

“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?”

January 2020 Review: Genetic Counselors vs ACMG, 23andMe Layoffs, Privacy

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?

Learning from the Field's Mistakes, Ancestry.com Rolls out Physician Ordered Health Testing

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.

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.



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