Direct-to-Consumer is Direct-to-Chaos for Rare Disease Families

By Devin Shuman, LCGC (she/her)

As a rare disease genetic counselor – who both has a rare genetic condition and serves rare disease patient populations as a provider – I have a Rare Disease Day Public Service Announcement for you: Do not order Direct-to-Consumer testing.

As a genetic counselor and patient in the rare disease world, every single week I’m being asked a question about these new “direct-to-consumer” genetic testing options. It can feel like whack-a-mole, with a new company or test being asked about every month. The second you feel like you understand most of the companies offering direct-to-consumer testing – you learn about another new company you’d never heard of. 

Direct-to-consumer (DTC) genetic testing is any genetic test that can be ordered directly by an individual/patient from their home without the involvement of a medical provider with a trained medical director reviewing and signing off on every report. While some of these companies claim a medical provider has “reviewed all orders,” if you haven’t had an appointment with said provider – then they are really just a rubber stamp on all orders and this is not the same as the involvement of your medical provider. Why is that a key detail? The providers that work for, or are contracted by these labs, are reviewing these orders because of a regulatory loophole. They have every incentive to get the lab’s brand of testing paid for whether or not it is a test that is in your best interest. Because a medical provider who is directly involved in your care is best suited to assess which test (if any) is the best fit for you and will answer the questions you have. A provider that is not affiliated with a testing lab and meets with you ahead of time can also provide you with informed consent, discussing the benefits and drawbacks of proceeding with genetic testing. 

They may call it Direct-to-Consumer testing but it is more like Direct-to-Chaos testing, with “answers” that lead directly to false negatives, false positives, false promises, and patients with more questions than they started with. Except now you have a scary list of potential conditions you’re being told you may have, meanwhile your providers cannot use the “results” for diagnosing or treating your symptoms. And I say this from experience – I have sorted through dozens of individuals’ “reports” from these websites and have looked up over 1,000 variants one by one. And what have I found? Not a single answer an individual was looking for. Not a single actionable result that was confirmed. In patients who have had multiple tests done by various DTC companies, almost never are the same “pathogenic” variants even reported by all of them, let alone also identified in the genetic testing they’ve also had done through legitimate labs..

Many say they’re offering whole genome sequencing but often what they provide is a whole lot of meaningless data with zero context, and interpretations that are inaccurate and misleading. As a genetic counselor who has a genetic rare disease these companies don’t just make me frustrated due to misinformation, they make me furious. They advertise something that’s too good to be true: a single test to look at all of your DNA, testing for every condition, at a fraction of the cost of a real medical genetic test. Why is this test so much cheaper? Because they’re essentially providing a giant data dump onto people. No quality control. No interpretation. Just big data grabs from the internet that result in false positives and negatives, and typically cannot even answer the question that the patient is asking. 

They purposefully target vulnerable families with unethical claims (advertising testing on your infant), in order to draw individuals in by using all the right terms to mimic real testing and carefully leaving out all of the caveats. There is a reason genetic professionals have ethical guidelines about not testing infants for adult-onset conditions. Somehow these companies are allowed to slide by as “just for fun,” while simultaneously providing individuals with lists of literally hundreds of “positive findings” for conditions such as amyotrophic lateral sclerosis (ALS) and BRCA1/2. “Positive findings” that in many cases are easily proven to be normal variation by checking free, public databases. How they get away with telling a patient they have a BRCA mutation and an 80% chance of breast cancer, when the variant is seen in over 99% of healthy controls (i.e. is normal variation) is astounding. 

As a rare disease patient, I understand that it is beyond agonizing to be stuck on the “diagnostic odyssey” (which I prefer to call the undiagnosed purgatory). Going through 4-10 years of specialists with endless invasive and expensive tests. Being told by provider after provider that your symptoms are either A. all in your head, B. caused by stress, or C. would go away if you could just lose weight – of course families are desperate for answers. So when a website offers a single test to cover everything – it sounds like it’s worth spending a couple hundred dollars to finally get help. What they don’t say is that they’ll provide you with dozens of pages of useless, misleading information that even a trained genetics professional would take an entire week to sort through. My greatest achievement from hundreds of hours of work trying to pull something useful from these results? Talking individuals out of the extreme anxiety the false positive results have provided. 

Sure, some of the DTC companies are easy to weed out as garbage (such as the ones offering a promiscuity genetic test). But I’ve talked to parents who did “whole genome sequencing” DTC testing on their dying child, hoping that somehow this data would be useful one day – not realizing that they heartbreakingly wasted their last chance at testing, such as banking DNA to do an actual medical grade test. I’ve talked with individuals who work in cytogenetic labs who have spent months combing through their data – who describe the “risk scores” provided by these companies as “a horoscope at best.” 

The companies that sell these tests often have a disclaimer about these results only being “for fun” or “recreational,” however have in bold all over their website and advertisements the medical conditions that they claim they can test for with their “medical grade clinical test.” They know what they are doing – purposefully targeting families desperate for answers with social media campaigns, emails, and free giveaways of their product. The hard part is, when they provide literally pages and pages of “results” there will inevitably be something in that list that feels like the answer to your question – because the test will spit out “answers” that cover every single condition and symptom out there. It’s easy to fall for the logical fallacy of thinking you’ve found your answer since it “fits”, and that’s what makes it so heartbreaking to watch. 

These families spend money they don’t have, get false positive “results,” then go to their doctors who either don’t know enough about genetics and provide unjustified medical treatment based on a false diagnosis or they get turned away by genetics clinics and dismissed by doctors for having “junk” results – leading to a real breakdown in trust and rapport between patients and providers. I’ve seen this erosion of trust causing individuals to stop seeking medical care because no provider takes the time to explain why they’re being dismissive. The last thing rare disease families need are false promises by scam companies leading to medical distrust, which just prolongs being stuck in undiagnosed purgatory without answers or treatments. DTC companies are doing actual harm to rare disease patients and families who deserve to have their very valid medical concerns addressed by real providers who take the time to provide fact based information and actual guidance regarding the benefits and limitations of doing genetic testing.

Right now America is in a genetics crisis. Many genetic clinics, if you even have one in your state, have wait lists of 1-2 years, or longer. Many turn away common indications, such as hypermobile EDS, to try and shorten their wait times. Meanwhile, nearly 40% of individuals in the US report that they are not having needed medical care done due to financial barriers. So of course a test billed at “just a couple hundred” sounds tempting when each individual panel in a genetics lab is often at least $250 and whole exome/genome sequencing is (cash pay) upwards of $3,000 – 5,000. Some websites even offer free or $20-40 “reports” based on analyzing genetic “raw data” provided by other companies’ DTC tests, with the same poorly reviewed, inaccurate data dump, useless results. The bottom line is, these direct-to chaos tests are cheap because they are snake oil. 

These pages of “results” also then leave individuals feeling like their real medical genetic testing is the “scam” as they only provide a single table of results, often between 1 and 5 variants. But the real value of the medical grade testing ordered by a trained specialist is their quality controls and their interpretation of the results. It takes skill to narrow genetic data down to only the top couple candidates for your possible answer. Anyone with a sequencer can spit out hundreds of garbage variants and call them your “answer” without any human oversight or skill. Anyone who creates a webpage can sell you an “interpretation” of your genetic data without any training or quality controls in place. 

They are just another example of why industry regulation is so necessary in the genetics field. We had to regulate medication quality controls, labeling, and advertising to prevent snake oil from being sold in the US in 1905; well it’s 2024 and we need to regulate genetic testing.  

We need to not just talk about the harm these DTC companies are doing but also take action. By reaching out to alums from Harvard and Stanford I got two of these companies to stop advertising as “endorsed by them” without the institute’s signoff. I’ve gotten the CEO of one company removed from the national list of genetic counselors, as he is not a genetic counselor and was falsely advertising his company as a medical genetics service. I have personally reported these companies to the FDA and have had numerous patients who sadly wasted money on these companies also report them. 

When you see harm happening, you can and should speak up. Every little thing you do adds up to create real change.

We need to move past a whack-a-mole approach for every new falsely advertised snake oil option that appears but make real change to prevent them from preying on families who deserve so much better than these uselessly chaotic “results.”

I am outraged at these companies because as a rare disease patient myself, it truly breaks my heart to see people profiting over the stress, chaos, and misinformation sold to those who need our support and help the most. I have supported patients as they cried realizing they lost time, money, and hope to this nonsense. And I have cried myself after I’ve talked with these patients and families, as I wish I could step through that computer and hug my patient – or at least do something to stop the tidal wave of destruction these companies leave in their wake. Rare disease families deserve answers. They deserve legitimate genetic testing options and access to genetic providers. They deserve to be protected from DTC salespeople and to learn about genetic testing options from unbiased sources (not from employees of these DTC companies). It is not your fault if you believed the false advertising – they designed it to be misleading, but you deserve better.