DTC: Direct to Children?

Last week Phil Rogers, of Chicago NBC News reported that he submitted a DNA sample from his dog, Baily, to the laboratory, Orig3n for analysis. This made headlines because a test report was issued on his dog for a test that was designed and marketed for humans. In follow-up to the story, Orig3n spokesperson, Karmen Conrad stated that, “…since October Orig3n has acquired a CLIA Certified laboratory and upon hearing about this issue has implemented controls to assure that nefarious samples such as this are rejected from further processing. We are sorry there was an error in reporting this one particular sample.”

I know firsthand that Phil’s experience was not an isolated case.* Last December, I submitted my dog Ginger’s DNA swab for the “Bloom Child Development” test, also by Orig3n, and I also received a completed test report. According to Orig3n’s website, “the Child Development DNA Test is a gene profile that will start you and your child on the path to lifelong discovery. From fitness to natural abilities for language and learning, the results help you get to know your child even better.”

Nothing was flagged as out of the ordinary with Ginger’s DNA. From the looks of her genetic test report, Ginger appears to be a pretty average kid in terms of her intellectual and athletic potential.

samginger

* Pictured on the left is Ginger. As you can see from the grey temples of my canine child, Ginger is safely over the requisite 13 years of age.  On the right is my colleague’s dog, Sam, who also submitted a sample to Orig3n for the “Superhero” test. Sam also received a complete test report. According to Orig3n, Sam is likely to be good at endurance activities such as triathlons. 

 

Genetic testing from the kitchen sink

This brings me to the second part of my experiment which proved to be much more troubling. It seemed plausible to me, given the homology between human and canine genetics, that the lab could have obtained results for at least some of the SNPs on their panel with Ginger’s sample. So, I decided to try the Bloom Childhood Development kit again, but this time I sent a blank. Using gloved hands, I carefully removed the swap from the sterile envelope and quickly ran it under the tap water of my kitchen sink, packaged it, and mailed it to the lab. In less than two weeks, I received a report for my imaginary tap water child. Like Ginger’s report, the results for the water sample was a 35-page report that varied at six of the 24 SNPs from Ginger’s results. But a much more disheartening difference between Ginger’s result and the water sample was that the report on the water sample was signed out by a DNA Laboratory Director, PhD Geneticist and fellow of a major American genetics organization.  

This is worth repeating – a  boarded geneticist signed out a report on a genetic test promising to predict the athletic and learning abilities of a child, from a sample of tap water.

Of the many tests offerings available through Orig3n, I chose the Bloom test in particular because I am deeply concerned that this test encourages parents to send in DNA samples from their children. I sent away for this test because I wanted to see for myself if there was a consent form or written information included with the test kit beyond what I could find online to caution consumers about the potential risks and limitations of this testing. Not surprisingly, there was nothing of the sort. Just instructions on how to obtain the sample and a simple postcard asking for a name, email and phone number.

 

Children are a target market for these tests

To me, the most disturbing part of the story is not doggie DNA but rather that children are the target for this and others tests like it, thereby compromising individual autonomy and privacy of genetic information. Regulatory gaps allow labs to boast of their CLIA Certification, which should provide some assurance of analytical validity, but may only serve to give an illusion of credibility. There are serious ethical concerns with this shift in “personal genomics” and allowing these unethical practices to go unchecked risks undermining the legitimacy of medical genetics.

Through social media, Amazon.com, and promotional events, companies are targeting parents of young children. Even Readers Digest gave the Bloom test a plug.  This company encourages people to submit their children’s saliva sample to gain information about their health, “enlightenment” and fitness information. While their Terms of Service and Privacy Policy say the testing is not directed at kids under 13 years of age, the child pictured on the test kit box appears to be years away from double digits. The Orig3n twitter feed is full of cute pictures of preschool age children. And this Instagram post on the Orig3n sight with a mom blogger  proudly swabbing her infant and toddler’s cheeks raised my genetic counselor anxiety through the roof.

Since genetic testing first became possible, the medical community has carefully deliberated the ethical ramifications of genetic testing in children and has recommended caution about how and for whom these tests should be used. Generally, it is held that a child’s autonomy and privacy should be protected when it comes to their genetic information. Unless the results could change medical management towards a better health outcome for the child, genetic testing of children is considered ill-advised. One can imagine the unintended consequences that may result from the use of these tests. It is not unfathomable that parents with great faith in the “science” of this technology may use results to determine how to allocate attention and resources in the family, investing more in one child or another based on the genetic results that may inaccurately suggest differences in intellectual or athletic promise among siblings. I believe that parents that are using these tests genuinely want all of the best for their children. They are seeking out these tests with the goal to give their kids the best possible advantage for their gifts and talents.

That being said, it is very difficult for me to imagine how such information could be beneficial to families and very easy for me to imagine the harms of growing up in a family guided by the results from a DTC test.

And what about privacy? It feels incredibly wrong to me that through no decision of their own, the DNA samples of many children are now in the hands of corporations to be bought and sold. We can only begin to imagine the possible unintended ramifications of this for the future, but only need to look as far as the recent Facebook news to get some ideas of what may be possible.

And while Orig3n may be the laboratory that is most direct in targeting children, it is not the only lab allowing for casual genetic testing of minors. Many people are sending in their kid’s samples to labs such as 23andMe, and in some cases inputting the raw data into 3rd party applications that provide an output of information related to possible mutations in genes for adult onset disorders such as cancer susceptibility.  Many of these results are false positives, but that is a story for another day.

Now genetic counselors are seeing patients for consultation on raw data of DTC tests that indicate the presence of mutations associated with Lynch syndrome and other genetic cancer susceptibility in young children. Historically, genetic counselors have taken great care in working with families to convey the potential implications of testing of children for adult onset conditions. Now, thanks to DTC testing, children everywhere are being tested for any number of genetic conditions, without counseling and without consent.

 

Gaps in regulation allow opportunistic genetic testing labs to operate and risk delegitimizing the field as a whole

This is not the first time that Orig3n has been in the news. Many may remember the planned “DNA Day” to be held at the Baltimore Raven’s game in 2017.  Maryland shut this event down due to regulatory concerns, one of which was the fact that Orig3n was not CLIA Certified.  The company remedied this problem late last year through their acquisition of Interleukin Genetics, a CLIA Certified laboratory that is now apparently the site where Orig3n processes their DNA samples.  Many DTC labs tout their CLIA certified lab as a symbol of quality. It is one measure, but CMS’s oversight of labs under CLIA is quite limited. And from the tap water experiment, I am not so confident that CLIA certification provides much assurance of analytical validity.

The lines between clinical and nonclinical labs are increasingly blurred. With lack of transparency in lab practices and enormous gaps in regulation, the ability to confidently assess lab quality is becoming impossibly difficult, even for genetics professionals. It is our responsibility, as part of the medical genetics community, to take a close and critical look at how genetic testing is developing, to shine a light on unethical practices, and push for regulatory standards that will better ensure integrity in the field of genetics. Our patients deserve nothing less.

25 Comments

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25 responses to “DTC: Direct to Children?

  1. Cathleen McCann

    I remember another genetic counselor years ago sent in dog dna and got a human report. Another sent a sample to 3 different DTC labs, and got 3 different reports. Sad that its become so trendy —

  2. Julie MacFarlane

    On a related note, my husband who is an ophthalmologist just had a patient come in and announce “she had macular degeneration” which she does not have , the Dr. told her. But she persisted she did and she needed additional testing and treatment, based on her DTC genetic results she was told she has macular degeneration. The Dr. told her you may have a genetic predisposition but at the moment based on clinical exam you do not have the condition. She wasn’t satisfied and wanted a 2nd opinion. She said , no i do have it, its inside my genes, you need to treat me for it. Private DTC genetic testing without counselling and intepretation of results is creating havoc in public funding health care follow up.

  3. Water Baby

    They did acquire a CLIA certified lab, but that does not mean they employ the CLIA process. One should inquire which process they use–their original, Orig3n process, or the required CLIA process. It would be quite interesting to hear their answer.

  4. Jenna Guiltinan

    I love that you did your own experiment using your dog DNA and tap water! Simple, a little silly, and 100% effective at showcasing a serious problem. I hope they offer you a refund!

    • Eleanor Griffith, MS, CGC

      I checked their site and it seems they only offer refunds when items are returned and in their original condition. Or if the item is defective, you can exchange… maybe try the Superhero test instead. Unfortunately, it doesn’t seem like there are any refunds related to the peddling of nonsense. In the absence of consumer protections that I think we should be able to reasonably expect to come from federal laws and regulations, I wonder if your credit card company would actually step in. My guess is yes. Of course, no refund could remedy how some nonsense “Enlightenment” results may affect a parent/child.

  5. Russ Brandt

    I have the same question I posed after the Dog DNA article on GenomeWeb was published. Are you aware that you acknowledged “you represent that the cheek swab is of your genetic material. If you are using the Service on behalf of a minor or other person for whom you may act with legal authority, you confirm that you have the authority to do so, and that any sample submitted for genetic testing will be a sample of that person” when you sent in the sample? So wouldn’t an appropriate analogy be that you decide to speed down the highway at 100mph in your car. Someone sees you rapidly approaching and quickly swerves out of your way causing an accident with another driver. You speed off and remark publicly how bad those other two drivers were.

    • James

      She sent in a blank sample and still received a result. This means that there was either cross contamination in the lab or a mixup of sample IDs, both very serious issues that call all samples processed there into question. Isn’t this company also trying to work with stem cells? That has even greater consequences for cross contamination.

      • Russ

        James, if you intended to reply to my question/comment, you missed my point entirely. I understand (as you pointrd out) the downstream problem as it exists. I’m questioning the upstream problem of misrepresentation after promising in a legally binding contract (the terms and conditions) to not do this.

      • anonymousskimmer

        @Russ

        Just because it’s a list of terms and conditions that you agree to doesn’t necessarily mean it’s legally binding.

        And no, that is not an appropriate analogy. Reckless driving is a criminal act, violating a contract is a civil infraction.

    • Mike S.

      It’s not a great analogy. A better one would be showing up to a car mechanic with a child’s tricycle and asking them to see if it needs a tune-up. Sure, you might be crazy for sending a tricycle for a car mechanic, but if they report back there’s a problem with the transmission, then something is clearly amiss.

      • Russ Brandt

        I like that analogy Mike, except the critical part you are missing is that showing up at a car mechanic with a child’s tricycle is not inherently something you promised not to ever do. When you consent to the terms and conditions of using the service, you represent that you are sending your own sample or that of your minor child. I just find it interesting that one can justify this deliberate attempt at trickery to get to another problem that one artificially creates. This does not in any way minimize the importance of the downstream problem, but don’t lose sight that the whole system is not being used properly in the first place. If you do what you promise to do (abide by the terms and conditions of the service), no downstream problem should exist.

      • anonymousskimmer

        @Russ

        “If you do what you promise to do (abide by the terms and conditions of the service), no downstream problem should exist.”

        I work in molecular biology, and perform DNA amplification at times (not of human or animal DNA). If the laboratory is set up properly there should be no downstream problem regardless. At best, from a water sample, they should get a signal which indicates a highly contaminated, or highly diluted sample (diluted so much that the resultant data is judged as uninterpretable, e.g. from shed skin cells floating in the air when the water sample was taken). All of those spit vials contain tons of contaminants (this is why we have to brush our teeth daily), and the labs need to be able to account for them or they’re as bad as the apocryphal used car salesman.

        Just because they are willing to cut corners does not give them the right put out a user agreement which explicitly binds the other party to not delve into their accuracy.

  6. James

    All bad analogies aside, a person has every right to send in a blank sample to test the legitimacy of a test provider. No reputable test provider would return results from such a sample as it would fail QC for low/no DNA, even for a test with only a few markers.

    To try and dismiss this serious problem by blaming the customer is just a diversion. CMS should investigate their entire operation.

    • Russ

      Hey, I’m just pointing out a few things that may be overlooked when people read about these things written conveniently one-sided . If you use a product or service in a way that is different from how you agreed to use it, don’t be surprised if it doesn’t work right. Yes, there could be better QC on the backend and that is an issue to discuss, but don’t just gloss over the front end QC you agree to when you purchase the test. And specifically to your comment, no, you don’t have a right to use something any way you want. I’m not a lawyer, but I can read and I suggest concerned people read the terms and conditions so that they can make a fully informed judgement on what their rights are.

      • Jenna

        I have to disagree Russ. Reporting genetic results on a water sample is fraud in my opinion. No reputable lab would ever do that.

        If you brought a tricycle to a car mechanic, the car mechanic would say “that is a bike and we only fix cars” because they are an expert and they know the difference between a bike and a car. If you sent a dog DNA sample or a water sample to a legitimate lab, they would be able to tell that something is wrong and would contact you and let you know. They wouldn’t report false results as if nothing was wrong.

        Part of being a CAP/CLIA certified lab involves testing blinded samples. You results need to match the CAP/CLIA results. Labs use science, which is meant to be testable. That is where your analogy falls apart.

      • Russ

        Jenna, you and others still seem to be beginning your argument (which I understand and agree with) in the middle of the timeline and not considering the deliberate attempt to deceive the system. Yes ,we should expect this company to do more to prevent misreporting of samples, but there should also be an expectation that customers who enter into a legally binding contract to NOT purposefully create problems and be surprised why things didn’t work. Going back to my driving analogy, when you accept a driver’s license you agree to follow the laws of the road. If you break a law (excessive speed) and cause an accident who is at fault? You can say all you want about the other drivers, they were going too slow, they should have been paying attention etc. and to some extent you may be correct, but you cannot dismiss the excessive speeder in the whole debacle. I can think of plenty of products and services that won’t work right if you don’t hold up your end of the contract.

      • Ronald

        Okay, you pointed it out. I personally think there is no weight in that argument. At least in Europe those terms would mean nothing in jurisdiction.

        I also don’t understand why you make that point, as it is in no way related to the lack of QC. Unless you would argue that, by putting that in the terms of service, the company thought it was redeemed from all QC duties, in which case the company’s reputation gets even more disputable. But maybe that is how stuff works in the US..

      • anonymousskimmer

        @Russ

        What if someone makes a genuine mistake, and accidentally sends the swab they used to clean their dog’s teeth by accident?

        Should that person’s child suffer because of that mistake, and the lab’s lack of diligence?

  7. Stunts

    Although the blog post is clearly aimed at discussing any eventual flaws behind the testing performed from a scientific and technical point of view, under which Orig3n is failing miserably (n=3, though), Russ Brandt makes a good point that should not be left unanswered.

    The driving analogy has a problem, because a driver’s license abides to a very well defined set of laws, and sets expectations from what to expect from drivers. In the case of Orig3n, this is more like a written consent. Let me provide you with a better analogy.
    Imagine you buy a new laptop. It has an announced spec sheet, which icludes the CPU model inside it, and come with an EULA, claiming that only the company that manufactured the laptop is authorized to open the laptop’s case to access its components.
    However, after using it for a while, you decide to open up the case to take a look at the components inside. In doing it, you find that the CPU inside is a lower end model than what was announced. You do this with two more laptops from the same manufacturer, and the findings are the same. Then you write a blog post complaining how the company that manufactured the laptops somehow “messed up” it’s QA and sold you laptops with lower-end CPUs than announced.

    What you are claiming here, is that, the complain may be unfounded, because you were not authorized to open the laptop’s case and look inside (since you accepted it in the EULA), and in doing so, you should not expect what you find to be valid.

    Maybe this makes a compelling argument, if you were trying to sue the company (I’m not sure, since I am not a lawyer), but it does not change the fact that the CPU inside is not what was advertised/announced, which is the point that the author is trying to make here.

    • Russ

      A few points of refinement to your comment: your analogy misses the critical thing I keep trying to get at. Disregarding the EULA and opening the computer only DISCOVERS the problem (wrong CPU) A better case would be that the EULA you agree to expressly states NOT to load Windows 7 as they know it will melt the CPU. You go ahead and do it anyway, CPU melts and you blog about why it didn’t perform correctly. Here you CAUSED the problem. Look, the reality is Ori3n is probably keeping costs down by skipping sample QC checks and putting the onus on you to send in viable biological samples, not dog samples, tap water or battery acid. That is one way to try assure that things work right and you can certainly debate if that is a smart or robust way to go about QC. But the fact remains is that you agree to it, it is a contract.
      I do not claim it is unworthy to debate the test results because you broke the rules and DISCOVERED bad results, I claim it is a little tricky to debate the test results because you CAUSED the test to be inaccurate by doing something you promised not to do.

      • Stunts

        I see your point. And after considering it carefully, I think this is about **expectations**. In my opinion, what the author tries to imply here is the following, using your example:
        I deliberately cause the problem by installing windows 7. As a computer expert, I expect that the CPU will not work at all (as advertised), and the machine should fail to boot (like on every other similar machine I have done this procedure before).
        Instead, the result I get is a running windows 7, but every time I run data analysis on it, it returns wrong results.
        This means I **expected** the machine to fail, after I deliberately caused a problem, but it did not fail in the way it was expected.
        This behaviour causes me to *suspect* something is wrong with the way the machine handles eventual errors, because it is not catching the problem I have deliberately caused. Hence I make a blog post complaining not about the errors in the data analysis, but rather about how the machine did not fail to boot, when it clearly should have.
        Is the methodology perfect? By no means. Maybe my expectations are just wrong and this manufacturer, simply designs their machines in a way that is completely different from others, and under their design, the way the machine failed **is** the expected way, and it’s just that **I** was not expecting that.
        To get back at the topic, maybe the way Orig3n performs their tests is completely different from that of other labs, and does not report failures as expected according to the author’s experience. We do not know this, since the procedure is completely opaque.
        This, by itself, is not conclusive evidence that something is amiss, but I don’t think that point was made anywhere. But does indicate that results from these tests should be interpreted with care, since something is going on that is not as expected.
        At the very least, within the limited sampling that was performed, it means that someone who fails to correctly collect a DNA sample, will still be provided with test results, when they shouldn’t have.

        So yes, I think you are absolutely right when you claim that it is at best “tricky” to debate the test results because you went against the rules. But you can still make some inferences based on the limited results you can get from this “test”. And I don’t think anyone exceeded what little can be concluded from it.

  8. Russ Brandt

    Thank you for the very thoughtful reply, I follow your example and agree with your conclusions. To a large extent, I believe, the expectations you should have are shaped by your agreement to the terms and conditions for the specific test. So, if you send in a viable human sample of yourself or your minor, then you should expect the test to return results (and further, you should only use the results in a way they are intended ie not a medical diagnosis and for the most part just informational or entertainment) . As soon as you decide to go out of the bounds of the agreement, your expectation shouldn’t be the same! Orig3n has the expectation that if you agreed to the T&C’s, you’ll abide by them.
    You know what fixes all of this (but is less blog-worthy)? Abide by your end of the agreement, Orig3n abides by their end of the agreement and all should work out correctly. If it does not, we should study those examples. Why not send in two equivalent samples to see if results are the same? Investigating that premise makes more sense to me. Not devising ways to break the test. Or maybe the real issue is that rarely do customers read the T&Cs? Or maybe our expectations are shaped by the confluence of knowledge from other “real” diagnostic tests you run, and when you participate in an entertainment value only test your higher expectations bleed over?

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  10. James

    No matter how you cut it, Orig3n has failed in just about every way possible and this is just the latest embarrassing episode for a company that has become the laughing stock of the DNA testing arena. A quick Google search and it’s pretty clear Orig3n has no respect for science or quality and they anything but innovative. Orig3n has been shut down repeatedly by regulatory agencies for federal and state violations and it appears they are all about being flashy versus having any substance. I suppose there are still a few people who will try to defend their shameful actions, but they don’t seem to get how bad a company Orig3n is. The Orig3n stem cell effort is an even more suspicious and concerning issue considering they cannot even seem to get genetic testing straight. Thank you to the author for bringing more background on Orig3n to light as it is definitely in public interest to shut down bad companies.

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