Navigating “The Wild West” Marketplace of Consumer Genetic Testing–and Other Needed Information About Our DNA

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In an article in The New York Times Sunday Review, genetics counselor Laura Hercher described a man named Matthew Fender, who—after searching for heredity data through 23andMe—had placed his genetic test results into Promethease, a DNA search engine that probes such data for variants cited in the medical literature. 

Fender had sought to learn his risk for developing a pulmonary embolism, the condition that had killed his sister, a seemingly healthy young woman of 23. The report didn’t mention that, but it did provide the alarming news that he carried a mutation (PSEN1) strongly associated with early onset Alzheimer’s, as well as two copies of a gene variant (ApoE4) that indicates greatly increased chances of developing late-onset Alzheimer’s.

After getting no satisfactory guidance from his primary care doctor and other professionals, Fender checked out a competing genetics company, Ancestry DNA,  to see what his results there would say about the PSEN1 variant. They said nothing. He then persuaded his doctor to order the test, which proved negative.

End of story for Fender, although he said the experience led him to improve his diet and to consider using his technological skills to develop an app to assist people with dementia through voice-activated devices such as Siri and Alexa.

It’s worth noting that both companies claimed their tests were 99.9% accurate. Yet a 23andMe representative told Hercher that “a 99.9% accuracy can still mean errors.” And apparently, not every variant in their chip is even validated for 99.9% accuracy.

“The direct-to-consumer genetic testing marketplace is a regulatory Wild West,” wrote Hercher, who is the director of research at the Sarah Lawrence College Graduate Program in Human Genetics.

She’s also the host of an informative and entertaining podcast, “The Beagle Has Landed,” (named after Charles Darwin’s ship—not Charles Schulz’s Snoopy), designed for both professionals and “curious patients,” according to its introductory press release. One of her interviewees was Matt Fender.

Hercher explained that FDA Commissioner Scott Gottlieb announced in November a new regulatory approach that will allow companies like 23andMe to market some tests to determine health risks without premarket review. That change, Hercher observes, “is expected to usher in a rapid expansion of the consumer genetics industry.”

That means we consumers will need to better prepare ourselves to function in this new ”Wild West” by getting a better education on the important topic of genetics and the role it plays in our health—even as the field itself is changing all the time.

With that backdrop,  I spoke with Hercher to elicit her opinions on how to view all these genetic data at this stage. 

First, to her, the quest for information about one’s heritage, which she calls the “ancestry craze,” is a “mixed bag.” The positives she underscores are that people enjoy and are intrigued by learning about their forebears, and the process brings science and genetics into people’s lives.

But when people ask her if these quests yield legitimate information, she responds: “It’s accurate-ish. People think of this as their genealogy, but once you get past Mom and Dad, there’s a lot of randomness—you could inherit something important, or not.”

“People like to tell a story they can understand, a narrative that can explain why people turned out certain ways. Genetics also tells a story, but the risk we run is that when hearing it, we put aside other stories—involving culture and heritage, for example.  It’s very hard to weave it all together.”

If we’re interested in our predecessors’ story, then their story is ours, she notes, and that’s valuable to us. “Genes are a part of that, but not all of it. Even among siblings: one person could have 34% Southern European heritage, while his brother registered 15%. Would that make sense? No. The tests don’t gather with that level of precision.”

Hercher analogizes a swimming pool, with some blue substance for African ancestry, red for Chinese, etc. “The testers scoop a sampling from a spot of genomes into a net, and they’ll get red, green, yellow,” she says.  “Different tests reach down and get the same mix, but it’s not identical.”

To Hercher, the ancestry tests also tend to encourage a kind of tribal thinking and ignore the overriding message: 99% of our DNA identifies us as human and is genetically shared among us. “The DNA story is our commonality as a people—as well as with other living things. I wish these companies presented the data in a way that made that clear.”

And this commonality has great implications for the subject of race. “No quality geneticist will tell you that the concept of race does a good job of describing our shared genetic ancestry. Race isn’t a scientific grouping; it’s defined culturally. There’s more mixture within groups than between groups.” In a point that is probably obvious to all but the most rabid white supremacists, she says: “Racial purity is a myth.”

Those in the genetics field are disturbed by the current efforts to bring back eugenics, or “scientific racism,” which was once believed even by serious scientists who felt they could, by controlled breeding, create an increase in desirable heritable traits and a decrease in undesirable ones, thereby improving the human race. 

The concept was easily manipulated and became discredited after its use by the Nazis in Germany. “Now all these things are widely talked about,” Hercher laments. “The white nationalist movement has adopted the language of hate ideology and put a scientific gloss on it.”

This is the background for the hot water that Massachusetts Senator Elizabeth Warren has gotten herself into by taking a DNA test to prove her Native American ancestry. With this action, critics say, the possible 2020 Presidential candidate has played into the concept of “racial science”–validating the alleged link between blood and race, which The New York Times calls “a bedrock principle for white supremacists and others who believe in racial hierarchies.”

That’s not, I trust, the way most of us view genetics. We may remember how we were introduced to the subject in school: with Gregor Mendel and the 29,000 pea plants he cultivated that formed the foundation of the field. But even among the experts, “we never knew how complicated heredity is,” Hercher says. Single gene inheritance, such as blood type, is fairly straightforward and rare—as are diseases attributed to a single gene, the so-called “Mendelian diseases,” which include sickle cell disease, as well as cystic fibrosis, Huntington disease, muscular dystrophy, and a few others. 

Most of genetics, Hercher stresses, is more multi-layered. Heredity, and the traits and illnesses that are in our DNA, involve the interaction of genes with both our external environment and the internal environment comprised of our hormones, metabolism, and other factors. So when we find out we have certain genes—and their variants and mutations—there’s no straight line to determining how our bodies will deal with their existence.

One important issue that stirs debates among geneticists involves ApoE4—the gene that denotes a higher risk for Alzheimer’s and carries both individual and societal implications—for care and economics—as our population ages. Approximately 25% of Caucasians carry this gene, but Hercher points out that an individual at somewhat increased risk may not develop the disease; while someone with decreased risk may still get it. 

And currently, without a cure, that raises questions. “There’s a faction in the genetics counseling community that says we have no business giving out that information,” says Hercher. Indeed, when Matt Fender initially sought guidance from his primary care doctor, Hercher reported in her Times article, the doctor responded: “What the heck do we do about it, once we know, other than create high anxiety?” However, says Hercher, “a growing faction says that whether or not to provide the information is not really our call.” In other words, it’s the patient’s decision.

So if we’re deciding to search out our ancestry–or to be tested for a possible disease– the important thing for us, the consumer/patient, is to seek education before we even consider being tested. 

How will we regard the potential results? Do we need the information to inform our choices about health decisions that must be made—before a pregnancy, for example, or to assess our odds of developing certain cancers?

On such matters, Hercher stresses, both factions in the genetics counseling community agree: if the information is to be given, good counseling should be involved to help patients think through the implications—and then to support them once they’ve decided whether or not to act on the findings.

What do you think? Have you had any experiences you’d like to share? Please enter them in the Comment box near the bottom of this post.

Annie

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12 thoughts on “Navigating “The Wild West” Marketplace of Consumer Genetic Testing–and Other Needed Information About Our DNA

  1. Hi Annie,
    Great image at the top of the post.
    Good, interesting article.
    This is a very complicated subject. Especially when one’s dna is to be used to predict present or future medical or ethical issues. Your source points out that other factors in addition to the dna itself can be involved in the actual expression of that dna. Thus really hard to predict the future and to make lifestyle or life changing decisions based on a dna finding which itself isn’t a guaranteed forecast.
    In my own case, I submitted a saliva sample for dna analysts to a very well known and respected organization. But the purpose was only to trace my ancestry and not at all having to do with medicine or ethics. Very briefly, they trace genetic markers on the dna and can tell from the order in which these markers occur when and where my ancestors moved from Africa.
    Pretty complicated but interestingly they have also identified famous people who have one or more same genetic marker as I do.
    These include, among others,, the good( Ben Franklin, Abe Lincoln, and Darwin) the bad (Jesse James,, Napoleon) and the very bad (Genghis Khan)
    They also found that except for those who never migrated from Africa, almost all of us now have 1-3% Neanderthal dna as result of our ancestors coming into contact with them.
    Anyway, I found this to be a fun application of dna info . But how accurate? I won’t be making any life changing decisions based on the results even tho I was intrigued by the Jesse James link.
    ddj

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    1. Hi, donthedoctor–

      Thanks for sharing your thoughts about the topic as well as your personal experience. You’re right, of course, that this is a very complicated subject; we’re clearly just touching the surface here.

      Astonishing things are happening in the field of genetics per se. When I was involved in a study of the ethical, legal, and social implications (ELSI) of the Human Genome Project, one of the boundaries that scientists universally agreed should never be crossed was germline research. Yet just recently, a scientist announced he’d genetically altered the genomes of a set of twins, reportedly to create a mutation that would make subsequent generations more resistant to HIV infection. We just don’t know what the implications of this type of experimentation will be. (https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=10&cad=rja&uact=8&ved=2ahUKEwjgxbWC0JjfAhWRneAKHU1wCtgQFjAJegQIAhAB&url=http%3A%2F%2Fwww.sciencemag.org%2Fnews%2F2018%2F11%2Fcrispr-bombshell-chinese-researcher-claims-have-created-gene-edited-twins&usg=AOvVaw3ZEDZ0N5q0WpesAevUjW7n)

      Closer to our discussion, the direct-to-consumer market is exploding. It is, indeed, a “Wild West” out there. Here are some pointers from the National Library of Medicine to help people who want to do ancestry testing make informed choices: https://ghr.nlm.nih.gov/primer/dtcgenetictesting/dtcchoosing

      And you closed your comment with a reference to your alleged forebear, Jesse James, thereby tying back to the “Wild West” theme. What a fine exercise of your “clever” gene!

      Annie

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  2. Hello, Annie. Interesting topic here, and no clear answers. Thanks for teasing out the various strands of discussion and for providing links to learn more. I did wander into this territory a couple of years ago and learned that yes, indeed, I’m some 97% from the part of Turkey once known as Armenia. Given family stories, I expected as much, but that remaining three percent threw me: Italian. The possibility for error notwithstanding, I chose to believe it. Why not? And to test out the fit, I cooked pasta all week, made my own tomato sauce from the garden, threw pizza dough, and had a good time. And then I got over it and went back to perfecting the recipes of my 97% ancestry. As for my health — the original motivation for the test — I really didn’t learn all that much. I knew I had a disposition for putting on weight around my middle — no need for a reminder! And as for the serious stuff, like a proclivity for dementia, apparently I’m safe.(If the findings are correct.) I wish I had the benefit of your post here before I undertook all that. I’m sure I would have gotten a lot more out of it.

    Keep these posts coming, Annie.
    Your devoted reader,
    Denise

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    1. Hi, Denise–

      You may have won the prize for most creative response to learning one’s ancestry; I love the pasta/pizza story. And very glad that you probably don’t have ApoE4, though as we’ve learned, this genetic predicting can be a) fraught with errors, and b)problematic.

      And thanks so much for being a “devoted reader.” That means a lot!

      Annie

      Like

  3. Yes with all the advances in genetics, there remains the terrifying possibility that genetics can be used for political purposes (like the Nazis did in their Reich).

    I’m not a big fan of sci-fi movies but about 15 years ago, I picked up in a Wal-Mart (or maybe it was the now defunct Canadian equivalent Zeller’s) in one of their discount bins a sci-fi movie from 1998 that starred Tim Robbins I believe it was.

    Writer Gore Vidal was also a member of the cast.

    But the society shown was a society where those who had the best jobs were those who had what would be called designer perfect genes.

    Tim Robbins played an individual whose genetic makeup was less than designer perfect.

    But he had an older brother who did have designer perfect genetic makeup.

    Robbins’ character worked at NASA (or a space agency very much like it) and in order to maintain his job, he carried around a fresh bottle of his brother’s urine each day attached to his leg so if he were called upon to submit a surprise urine test to maintain employment, he’d use his brother’s urine.

    It was a very well done film and one I had never heard much publicity about prior to buying it.

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    1. Might it have been Gattaca? Gore Vidal was in it, but the starring role was Ethan Hawke’s. We saw it in a film series when it first came out. Chilling, to be sure.

      I am wading my way through “She Has Her Mother’s Laugh,” a history of heredity by Carl Zimmer. I heard an interview with Zimmer conducted by Laura Hercher, the genetics counselor I interviewed for this post, on her podcast, “The Beagle Has Landed.” It was quite interesting and made me want to read the book.

      Liked by 1 person

  4. OK, take this with a grain of salt, because I don’t know if I remember all the details exactly:
        Some of the advertising for genetic testing is disturbing even in just style. Some ads show a giddy, laughing person saying something like, “I used to think I was ‘Italian or …’ but now I found out that I’m not… I’m really ‘[another nationality]’ “. This is confusing heritage, culture, and genes.
        I was thinking about how someone can say, “I’m Italian” and provide a narrative: Our heritage goes back all the way to the Roman Empire… my great-great-great-… Grandmother was born in Rome…, and all my cousins still live in Italy. Our family back in Italy is still very traditional in all cultural ways….
        However, a consumer gene test will likely show many genes that are identified with another country or region. The Romans were all over the known world and would have acquired many genes from many places. Along these lines, after the collapse of the empire, Gheghis Khan was very busy. I saw an article that said that the most common genes found in the world can be associated with Gheghis Khan. That doesn’t make us Barbarians. We have genes in common with Earthworms but that doesn’t make us Earthwormian. Some vital genes that are needed by all creatures to survive and do common metabolic functions have survived evolution because of their vital inportance. We have genes in common with viruses and bacteria — that’s a whole other story; some genes are “copied or ‘stolen’ ” for nefarious purposes to fool our immune system. Commonality even crosses the Kingdom barrier: Chlorophyll is similar to Hemoglobin except that in the center, one has Magnesium and the other has Iron. The plants use theirs to transfer the energy of the sun to the manufacturing process for making sugar and we use ours for holding oxygen.

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      1. One piece of the puzzle:

        DISCOVER MAGAZINE

        Gene Expression

        1 in 200 men direct descendants of Genghis Khan

        By Razib Khan | August 5, 2010

            “… a groundbreaking … genetics paper reported results which indicated that a substantial proportion of men in the world are direct line descendants of Genghis Khan…, I mean that they carry Y chromosomes which seem to have come down from an individual who lived approximately 1,000 years ago.”
            “…descent from Genghis Khan became a mark of prestige…”

        Like

    1. Your point above about the commingling of culture, heritage, and genes was precisely the point made by Laura Hercher, the genetics counselor I interviewed.

      As for Genghis Khan, one of my respondents above talks about the findings of his consumer genetics testing, which found–surprise!–that he was related to Genghis Khan. The more disturbing finding in the Discover article you cite is that “…descent from Genghis Khan became a mark of privilege…”

      The issue that was new to me in your comment involved chlorophyll and hemoglobin. According to the first New York Times article I’ve referenced below, plants actually contain the genes to make hemoglobin per se. The second article describes the way that hemoglobin responds to light in the human body, affecting our circadian rhythms, much as chlorophyll’s impact on plants.

      So yes, the commonalities among all life are real and fascinating; Hercher also made that point in her discussion above: “The DNA story is our commonality as a people—as well as with other living things. I wish these companies presented the data in a way that made that clear.”

      With regard to the chlorophyll/hemoglobin issue, I thank you for expanding my knowledge in a new direction. For another example that I find fascinating, you may want to read my latest post, “Can I Really Get My Arms Around This Animal?”.

      https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=10&cad=rja&uact=8&ved=2ahUKEwitu-2AlKDhAhVPdt8KHU5YBqEQFjAJegQIAhAB&url=https%3A%2F%2Fwww.nytimes.com%2F1988%2F01%2F19%2Fscience%2Fcomponent-of-blood-also-found-in-plants.html&usg=AOvVaw3p5SXJA7UC1LT3OoFV86Om
      https://www.google.com/url?

      sa=t&rct=j&q=&esrc=s&source=web&cd=4&cad=rja&uact=8&ved=2ahUKEwjx1a2PmaDhAhUHd98KHbkYAagQFjADegQIAxAB&url=https%3A%2F%2Fwww.nytimes.com%2F1998%2F01%2F16%2Fus%2Fstudy-offers-surprise-on-working-of-body-s-clock.html&usg=AOvVaw2VnKaj6jV1Mq-fbVRd29Dz

      Like

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