Potential harm to users appears to be the backbone of the argument for restrictive DTC regulation, little evidence supporting this claim is provided. In fact, recently published research on this issue, although inconclusive, did not report harmful outcomes in the studied cohorts.The two studies cited point out some evidence that seems contradictory: one study mentioned that users of direct-to-consumer genetic test don't experience distress over test results, and the other that consumers are anxious over results prior to receiving them (understandably so), but after receiving their results, still want to review the results with a health professional (understandably so).
Overall, it seems that your average consumer ordering a DTC genetic test goes from slightly apprehensive before the test results come in to experiencing a need for a helping hand afterwards.
Whether this is due to consumers receiving results that are mundane in their report (You have an allele carried by 2% of the population that's related to metabolism of sugar), or just being unable to interpret the report in the first place isn't very clear (You have a A>T polymorphism somewhere on Chromosome 19), it seems that consumers aren't as dumb as regulators assume they are: Once consumers determine that they can't interpret genetic reports on their own they decide to find a pro that can.
But Vayena and Prainsack also make a pretty good distinction of the niche DTC tests are likely to occupy:
The term “beyond-the-clinic (BTC) genetics” better describes what is now known as DTC genetic testing. Besides serving as a more encompassing label under which the various forms of interaction among service providers, users, and medical professionals can be subsumed, the concept of BTC genetics also captures the notion that the boundaries between genetics in and outside of the clinic are blurring (3). It also hints at additional uses genetic information may have outside the clinic that contribute to a broader understanding of well-being that transcends clinical definitions of health.Taking this together with the studies trickling in, you might argue that regardless of whether or not consumers end up doing anything with direct-to-consumer test results, little to no harm can be done. Most people might be motivated to take an greater interest in their own health and even consider taking their test results to a professional for some better guidance. This, in general, is a Good Thing, right?
Yet there's a peril glossed over at the end:
The report rightly proposes tighter regulation of the advertisement of DTC genetic tests to consumers. The objective of this mandate is to ensure presentation of accurate information and clearly falls within the remit of consumer protection.The issue of whether consumer protection is needed with direct-to-consumer tests is a whole other debate with several angles to approach the problem from.
The first is that consumers should be sold something that's actually useful to them. If the product is presented as something with a use that's beyond satisfying mere curiosity, such as poster-size images of 'personal genetic profiles' of blown up electrophoresis gel or karyotypes, it has to be something they can use. If the product doesn't fulfill consumer expectations, most will conclude that they've wasted their money on a high tech test of limited use to them.
Some of these people might fall in the group that consults professional geneticists to discuss their results, and a set of these could end up disappointed that their $299 direct-to-consumer genetic test ended up costing $2,999 once they finish up with genetic counseling.
The second issue is that even if the reports have a use, the quality of conclusions should actually be actionable.
Knowing that you have an allele carried by 2% of the population that's related to metabolism of sugar is one thing, but knowing that it significantly increases your personal risk of developing diabetes is better. That's actionable. Knowing that you're a carrier of dystrophin mutations and have a risk of bearing children with Duchenne Muscular Dystrophy is actionable.
Providing results that are merely interesting, but largely academic in nature, in a direct-to-consumer test should be limited despite it being possible to spit everything out of a database. There's the risk of information overload, especially among consumers, and after a certain point the additional information decreases the value of the product. Pigging out at a buffet makes you ill, not satisfied.
The third point for regulating emerging genetic tests concerns the need to respect and maintain public confidence.
The expectations for most new technology are high. If providers rush in to sell direct-to-consumer tests before the results and reports are mature enough, they'll create the perception that the field is a pile of 21st century snake oil. If consumer tests don't deliver in this start up period and fall short of expectations, it'll be a while for the marketplace to forget and make it much harder to get any support for later genetic tests that actually provide great value.
In the end, regulation of new direct-to-consumer genetic tests is needed but shouldn't become a sledgehammer on innovation, but something that helps new technology become products of high quality that it should rightfully be.
