It’s that time of year again; time for the barrage of advertisements and commercials trying to sell at home genetic testing. It’s rare to go an hour without being inundated by companies like 23andMe and Ancestry.com, offering their best deal ever to provide you a crystal ball that can answer all of your lingering questions about yourself. But before you rush off to buy that spit kit as a gift for a loved one (or yourself) we encourage you to take a moment to consider what kind of gift you might be giving, or receiving, with these home genetic test kits.
Direct-to-consumer (DTC) genetic testing, or testing that can be ordered from your home without a medical provider, has blown up as an industry over the last 15+ years. And as the number of DTC tests continue to grow, so do concerns regarding consumer privacy protections and the reliability and trustworthiness of the information they provide.
Privacy
- If you’ve done a DTC genetic test, then that means that a company has your genetic information, and there is a very good chance that they plan on sharing it. Sure, they tell you that they’ll only allow your genetic information to be used for the betterment of science. Often left out of the disclosures is the fact the companies hope for profits does not come from test sales, but from how they will monetize consumer’s personal data. And unfortunately, the companies they sell your data to don’t always have the most noble of endeavors.
- Even if someone happens to get a hold of your genetic code, the company that did your testing said that it would be de-identified. So there’s no way anyone could know it’s you, right? Think again. Although DNA is ‘de-identified’ there have been many instances where re-identification is not only possible, but can be done rapidly and inexpensively (see here, here, and here).
- Even if you change your mind and don’t want your genetic information to be in some company’s database somewhere, previous efforts have shown that it’s nearly impossible to put that cat back in the bag.
- Beyond companies selling your data for profit, hacking of these companies has already resulted in data breaches for millions of people. And this isn;t just DNA sequence data, but also other personal information and family connections. Even more disturbingly, these data breaches may have been used to target individuals with Ashkenazi Jewish ancestry. Plainly, any breaches of ethnic or ancestral information is a significant safety risk.
Accuracy
Unfortunately, we at GSF have seen numerous examples of misleading and inaccurate results through the reports of patients we serve. While genetic testing can provide life saving information in many cases, when the information is erroneous or incomplete, the results can be devastating.
- DTC genetic tests are designed to only look at select parts of your DNA – they are not comprehensive and do not examine every letter of your genetic code. This results in an immense amount of your genetics not being taken into consideration. So, at best, you’re only getting part of the picture. These partial results are also often misunderstood by patients who believe they’ve had more comprehensive testing done.
- Just because you test ‘negative’ for a health condition on a DTC test doesn’t mean that you have a low risk for that disease. For example, 23andMe currently tests for 44 gene variants in the BRCA1 and BRCA2 genes. There are more than 4,000 variants in these genes that increase cancer risk that this test will not detect. If you carry a BRCA variant that increases your chance for cancer, there is a good chance that your 23andMe test will not detect it. This test may therefore provide false reassurance and prevent at-risk individuals from receiving appropriate and potentially life-saving cancer screening. These concepts can be difficult to understand, which is where meeting with a specialist (such as a genetic counselor) can be helpful.
- On the flip side, just because you carry a gene variant for a health condition doesn’t necessarily mean that you will develop that disease. For example, there is a specific variant in the APOE gene (APOE4) that has been linked to an increased risk for early-onset Alzheimer’s disease. However, the majority of people who carry one of these variants will NOT go on to develop Alzheimer’s disease. Furthermore, even if someone discovers they may have an increased risk for Alzheimer’s, there is currently no available treatment, which can lead to significant stress or anxiety.
- Much of the genetic research that has been done thus far has been done on individuals of European ancestry. So, unless you’re of European descent, there’s a good chance DTC testing won’t be as accurate for you.
- Labs that do DTC testing are also not as closely regulated, as evidenced by our own staff member’s experience of sending a DNA swab of her family dog and a sample of tap water to a DTC genetic testing company Orig3n. Not only did the lab not identify that these samples were not human, but a full report was issued. Despite reporting these concerns to regulators, these companies pivoted to Covid-19 testing and did not face serious consequences until it was found that they had reported hundreds of false positive Covid tests on residents of Long-Term Care facilities.
- Because of how complex interpreting genetic test results can be, the American Medical Association encourages ‘patients to undergo genetic testing under the guidance of a physician or genetic counselor’.
Let’s say you’re not doing DTC testing for health reasons – then none of this applies to you, right? Check this out:
- One science reporter documented how he took nine different commercial DNA tests for ancestry and got six different results, illustrating that each lab uses a different algorithm that influences the interpretation of results.
Unexpected findings
- Many people who do the at-home genetic tests are finding out that one or both of their parents are not who they thought they were (“not parent expected”). Some studies have shown that non-paternity rates range from as low as 1% up to as high as 30%. This can understandably cause much stress and anxiety not only for the individual but for their family. With millions of people doing ancestry testing every year, that adds up to quite a lot of people who will fall into this category. In fact, it’s already happening frequently enough to have its own Facebook group.
- There have also been instances of individuals who are adopted that track down their biological parents who did not wish to be found. And the cases where someone actually finds out they’re adopted from a DTC test.
Yes, genetic testing can provide powerful information – when the right test is used and a specialist, such as a genetic counselor, can help put that information into the context of your personal and family history. But there are limits to what any genetic test can tell you. Our genetics make us up, but we are so much more than our genetics.
Whether or not you decide to buy a DTC test this year, if you have questions about genetic testing or results from a DTC test that you would like to review with a genetics professional, please don’t hesitate to contact us. More reading: Genetics Home Reference (part of the National Institute of Health and the US National Library of Medicine).