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.
* 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.
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.