Now a new study, conducted by scientists from a medical laboratory called Ambry Genetics in Aliso Viejo, California, shows that results given by such DIY tests may be largely untrue. And in fact, instead of helping consumers, they are more likely to end up hurting them in the long run. What's worse is that consumer genetic testing has blossomed into a full-blown industry with major actors, namely Ancestry.com, MyHeritage, and 23andMe, and they are profiting from this whole ordeal.
The results obtained by the researchers were detailed in a paper titled, "False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care," which was published recently in the journal Genetics in Medicine.
Such companies have become popular on the backbone of such direct-to-consumer genetic tests, which typically use a technique that is referred to as genotyping. This technique is used to gather information about an individual's ancestry, risk of developing certain diseases, and status as a carrier of certain diseases as well. In many cases, the raw genotyping data can be made available to customers upon request. And then it's up to them to bring the data to third-party companies that can interpret them for a specified price.
What Ambry Genetics did was simply take a look at the data from these consumer DNA tests. Indeed, they went through a total of 49 samples containing raw genotyping data, and what they found was quite alarming. The researchers said that 40 percent of all the variants found in the raw data were nothing but so-called false positives – mistakes – which means that they could lead people to believe things that aren't really true. There have been many cases of such genetic tests resulting in "surprises" to people, such as when one Germany family found out that they were Scottish, but it turns out that this kind of occurrence could be nothing but an error in the data.
What's even more problematic is that most of the false positive results were related to cancer-linked genes. This means that those who encountered such false positives likely suffered from cancer scares even though the data was flat out wrong. The researchers also noted that there were a number of instances where third-party DNA interpretation services simply "misunderstood" what they were looking at. It sounds like a sad affair all around. (Related: DNA testing a waste? Even after people find out their disease risks, they don’t do anything to change their health habits.)
DIY genetic testing is different from clinical genetic testing in that the latter requires the sign-off of an actual licensed physician. Instead of going down the DIY route, consumers are instead advised to always seek out the help of doctors that can confirm any and all results. That way, they can avoid dealing with false positives that could send them down the wrong path with regards to their own well-being.
Using only doctor-ordered genetic tests could also help in making sure that individuals know exactly the type of conditions or diseases they might have – or could likely have in the future – and therefore do what's necessary to prevent them. There are some diseases, especially congenital ones, where you would need all the help you can get.