If you were on the internet around 2018, you could not miss it: seemingly everyone was ordering their own set of 23andMe or AncestryDNA – two popular brands of home genetic testing kits – and finding out their genetic ancestry. All over YouTube, people were amazed to discover where in the world their ancestors came from, and millions watched them do it. The tests did not only look at ancestry, but also offered a health screening, which would tell you if you were predisposed to certain diseases. However, with all the attention focused on its entertainment value, the implications of bringing this technology directly to consumers went unnoticed and undiscussed.
Genetics, in popular culture, is a topic that is often misunderstood. Of course, not everyone can be an expert on genetics. Yet, this particular field of the biological sciences is one that can have significant impacts if misapplied. The recent advent of direct-to-consumer (DTC) genetic testing has led to many people interacting with genomics - the study of an organism’s complete set of genes - without really understanding what they are seeing.
First of all, it is important to recognize that these DTC tests do not sequence your genome - they detect single-nucleotide polymorphisms (SNPs, pronounced “snips”), i.e. the variation at a particular location in your DNA. Furthermore, most DTC tests only look at a very small number of SNPs for a given gene. In the case of genes such as BRCA1 and BRCA2, for which some variations have been linked to breast cancer, only a few SNPs are screened for, despite there being over 1000.[1] Furthermore, having a SNP that correlates with a higher risk for a certain phenotype that may be linked to a particular disease, does not mean you are destined to have it - it is just a correlation. Without an understanding of these limitations, consumers may be misled by the results of the tests. They might take the SNP results to be an absolute biological truth, telling them everything they need to know about themselves and what diseases they will get. Although DTC tests inform consumers of these limitations, it is easy to overlook such a disclaimer should a test tell you that you are predisposed to cancer.
It also begs the question: what is truly the point of giving consumers this health information? They should not see it as a replacement for a clinical diagnosis. DTC genetic health screenings create the risk of people seeking unnecessary clinical procedures and adds stress to their lives, making the tests seem like more trouble than they’re worth.
As more and more people jumped aboard the personalized genomics train, privacy concerns took a backseat, all the while being exacerbated as more people’s DNA was analyzed. Of course, these companies have privacy policies in place. The genomic data is encrypted to ensure restricted access, and you can choose to have your data destroyed after testing is completed. 23andMe’s privacy policy states that data will not be shared with any public databases, employers, or insurance companies – but may be shared with “service providers”.[2]
Data breaches are rare, but a possibility – in 2020, the genealogy service GEDmatch’s database was hacked.[3] Perhaps the most glaring and surprising privacy concern is the fact that genomic data from DTC tests has been used to trace and identify people who have never used these services. One such case occurred in 2005, before DTC genetic tests were widely available. Using genomic data from relatives in combination with some other identifying information, a fifteen year old managed to track down his anonymous sperm donor father4. Furthermore, nine years ago, a paper was published in which researchers had been able to identify surnames from personal genomes, all of it while using only free internet resources [5]. Although these companies appear to be making it a priority to protect genetic information, with the advancement of technology and the availability of information, it is seemingly impossible to ensure complete privacy of genomic data.
You might shrug at this information and think, ‘so what, what would anyone want to do with my genetic information anyway?’ Well, the boom in genetic technologies occurred relatively recently, and is still evolving at such a rapid pace that legislation may not be able to keep up. In that case, we could be dealing with potential issues of genetic discrimination, such as people being denied insurance or employment due to their genetic predisposition to a disease, and bad faith actors may be able to use your genomic data against you.
So while DTC genetic tests may have exploded in popularity as a fun way of learning more about yourself, their potential in a broader health context and the ethical concerns surrounding them result in a more muddled view of their benefits when weighed up against their drawbacks. The wave of DTC popularity is a major foray into popular genomics, but there is certainly more to come, and it is important to avoid misconceptions about what a piece of genetic information actually means, and to be aware of novel privacy concerns that DTC genetic tests raise.
References
Horton, R. (2020, January 17). Direct-to-consumer testing: a clinician’s guide. Genomics Education. Retrieved March 10, 2022, from https://www.genomicseducation.hee.nhs.uk/blog/direct-to-consumer-testing-a-clinicians-guide/
Privacy Highlights. 23andMe. (2022, February 3). Retrieved March 10, 2022, from https://www.23andme.com/about/privacy/
Murphy, H. (2020, August 1). Why a data breach at a genealogy site has privacy experts worried. The New York Times. Retrieved March 10, 2022, from https://www.nytimes.com/2020/08/01/technology/gedmatch-breach-privacy.html
Sample, I. (2005, November 3). Teenager finds sperm donor dad on internet. The Guardian. Retrieved March 10, 2022, from https://www.theguardian.com/science/2005/nov/03/genetics.news
Gymrek, M., McGuire, A. L., Golan, D., Halperin, E., & Erlich, Y. (2013). Identifying personal genomes by surname inference. Science, 339(6117), 321–324. https://doi.org/10.1126/science.1229566