genetic counseling

"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.

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.

Invitae appointed their co-founder Sean George as CEO earlier this year. He joins us to share his bold vision for the field of genetic testing.

Sean mentions the word “scale” several times in today’s interview. Invitae was by no means the first on the scene, beginning in late 2013 (just after the Myriad Supreme Court decision), but with plenty of funding and talent they have sought to push the needle forward in a big way when it comes to genetic tests. The company has always exuded the message that there is all this valuable genetic information available now, and it’s just not getting to people who could benefit.

Sean says that this urgency is what drives him in a quest to “prevent unnecessary suffering that exists today by tearing down the barriers that are keeping this powerful and fundamental information from benefiting people’s lives.”

What are the barriers? Sean says cost is number one. That there are many out there who would buy genetic tests but can’t because of the price. In an age of astronomical drug prices, is it really that crucial to squeeze off a few dollars from a genetic test? And how does Sean and Invitae make the decision when to offer a test?

While Invitae has not gone the direct-to-consumer (DTC) route, Sean says they have a bit of a hybrid model where they market directly to consumers, but sell only into the clinic.

Sean agrees that the industry has had some “whiplash”, moving forward with excitement only to have big set backs. He says that in his company presentations, he likes to show two New York Times headlines:

The first goes, “10 Years after the Human Genome Project, What Does It Matter?” And the second headline taken from 1991: “Personal Computers: So Who Needs Them Anyway?”

Is Grail already merging? Genomic autopsies? Does the House's new healthcare bill turn mere genetic risk into pre-conditions? Nathan and Laura are back to find meaning in the rush of May's headlines.

Laura cites a disturbing survey of over 2,000 women diagnosed with breast cancer that found half of them had unnecessary double mastectomies after genetic testing. She says unabashedly, “In big letters, it’s an ADVERTSIMENT FOR GENETIC COUNSELING.”

Speaking of alarms, Nathan says attorney Joel Winston’s blog against Ancestry.com’s terms and conditions was fear mongering.

We end with comments on the passing of one of the creators of the orphan drug industry, Henri Termeer.

Why are there no viable psychiatric genetic tests, we ask today’s guest.

Rob Philibert is a geneticist and psychiatrist working at the University of Iowa. He admits at the outset of today’s interview that the field of psychiatric genetics is in a “quandary.”

“The results are not matching the hype,” he says.

The place Rob has found some success is in studying epigenetics. His lab perhaps leads the world in understanding the effects of tobacco, alcohol and cannabis use on DNA methylation. An epigenetic biomarker test can tell doctors, for example, whether a person smokes and how much. Rob has founded a company, Behavior Diagnostics, to commercialize the test.

So how does this help a person quit smoking?

Rob says that there can’t be therapy until there is accurate testing.

“We like to fudge when we talk about smoking. When you look at studies, half of individuals who are smokers will misrepresent their smoking to their physicians, even when directly asked.”

Think of glucose testing for diabetes, argues Rob--reliable data about the patient is at the heart of any effective treatment.

The test wouldn’t be possible without digital PCR, Rob says, giving a shout out to technology made by Bio-Rad and funding provided from the NIH.

Guests:

Ellen Matloff, C.G.C., Director, Yale Cancer Genetic Counseling

Listen (5:05) Genetic counseling before the book was written

Listen (6:10) Myriad actions unprecedented

Listen (4:32) 30-40 % of all genetic tests ordered in error

Listen (5:12) Patents needed for business incentive?

Listen (3:09) Too few genetic counselors? Just Myriad propaganda

Listen (4:02) What is the Myriad database?

Listen (5:26) Why is the gene patent decision so personal for you?

Listen (2:32) DTC genomics not accurate, protected or helpful

When Ellen Matloff heard news of the recent Supreme Court decision invalidating some of Myriad's BRCA patents, she was overcome with tears. Tears of relief.

The first genetic counselor at Yale's School of Medicine, Ellen has had a front row seat to the long saga of gene patents, particularly the BRCA patents of Myriad Genetics. In today's interview Ellen recalls the days when the BRCA genes were first made known and explains the huge benefits the gene tests provided to her patients.

Then Myriad cracked down on their patents in a way Ellen calls "unprecedented" and "surreal."

Getting snubbed at every turn by Myriad--and then by her own peers for taking a position against gene patents has made this journey very personal for Ellen. Today she tells her view of gene patent history and gives her take on the burgeoning world of clinical genomics.

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