The thesis used the methods and theories of business anthropology and medical anthropology to explore the realities of DNA testing, both from the perspective of consumers and industry. As a result of my research, I uncovered many insights that I felt all consumers needed to be aware of at this moment if they are thinking of taking a consumer DNA test.
As a result, I wrote a talk with the goal of advising consumers why they should approach DNA tests with caution, and why companies need to do more to protect consumer safety.
Today I’m going to talk about direct-to-consumer genetic testing. I am going to share why consumers should approach these tests with caution, and why companies need to do more to protect consumers’ safety.
But before I do that, I want to share a little story with you. In 2003, a private health tech company was created to revolutionize the diagnostic-lab industry. It was founded by a 19-year-old visionary by the name of Elizabeth Holmes.
She promised that with only a single drop of blood, her company could perform 240 common blood tests. On top of that, she promised a personalized healthcare revolution and opened up direct-to-consumer blood testing sites branded as wellness centers.
But around this time, cracks in the business model started to appear leading government agencies and the Wall Street Journal to question the validity of the technology. As it turned out, the company was making false claims and misleading government regulators. But most importantly, it was deceiving consumers with their marketing and test results.
By 2018, this company ceased to exist. So who was this company? It was called Theranos, and I bring it up because it reminds me of the direct-to-consumer genetics industry today.
So what is direct-to-consumer genetics some of you may be asking? Well, these are the genealogy and health DNA tests being sold by companies like 23andMe, Ancestry, and many others.
You probably know them from the advertising you see everywhere. These ads are usually full of diverse smiling families. Presumably, they are smiling because they have just learned something that will change their life, or at least, that is what we are led to believe.
But I wonder, are these ads being truthful? Can these tests really help us lead a better life?
As a business anthropologist, I’ve been conducting mixed methods research in consumer genetics over the past couple of years. I want to understand why consumers take these tests, are they valuable, and what are the potential benefits and risks.
My goal is to play a role in shaping the conversation so that we can design consumer DNA tests in such a way that is useful and equitable for everyone.
But at this point, I question the value of the tests, and I’m concerned about consumers’ safety. That is because most consumer genetics companies, like Theranos before them, are using emotional marketing to convince consumers they will experience a revolution in their health and life.
As a result, an estimated 30 million people in the US have already taken a consumer DNA test despite many in the science community expressing concern.
One of those people is myself. In the course of my research, I’ve found the majority of participants lacked the genetic literacy to judge the potential benefits and risks of taking a DNA test.
Now this shouldn’t come as a surprise since most people are not trained in genetics, but what was so concerning was the fact that the majority of participants I interviewed had an almost blind faith in the companies and the tests simply because it was marketed as science. And this insight is critical because this potentially misplaced sense of trust underscores all of the other problems I will be discussing today.
So building on that, there is a concern about utility, or the ability of consumer DNA tests to provide useful information. Many studies over the past decade call attention to the limited predictiveness of these tests.
The problem is that science is still working to understand the complexities of the human genome, and while it has made great strides, our knowledge is still evolving. This is particularly true for health conditions that are influenced by a person’s environment or multiple genes.
Further complicating the matter, the sample population that scientific research is based on is limited in diversity, as is the sample population using these tests. This makes it extremely difficult to extrapolate the results to everyone, especially given the fact that most consumer genetic companies do not sequence full genomes or have a deep understanding of a consumer’s medical history and lifestyle.
So given those limitations, most consumers will not get medically useful information, and some may even be mislead.
To demonstrate these points, I call attention to a recent Wall Street Journal story about a family of seven women who were led to believe they had an elevated risk of breast cancer based on a Myriad Genetics test. A couple of these women decided to have double mastectomies, only to learn later that their particular genetic variant of the BRCA gene has since been reclassified, and they might not actually be at risk.
So should these women have known that the results might change? Possibly. To be fair, consumer genetic companies do call attention to the fact that the results may change over time.
But a problem like this is happening because consumers lack the genetic literacy to judge the potential benefits and risks, and yet they have been enabled to purchase DNA tests directly online, without any required medical guidance before or after the test.
And so this leads us to the next concern, regarding informed consent. Although companies do require consumers to opt into the Terms of Service on their websites, most consumers are simply not reading them.
So quick question – by a show of hands, how many of you read the terms of online contracts? [Yea, that is what I thought]. And you are not alone, in a survey of 353 participants, I found that 52% did not read the terms, and only 23% partially read them.
And so this is a significant problem because consumers taking what is essentially a medical test without being meaningfully informed about the potential benefits or risks. And though the companies are legally compliant in posting this information, what is legal is not always the same as what is ethical.
Ok, so now building on this problem, the next major concern relates to privacy and security. Many participants in my research would make comments such as “my DNA data is less important than my credit card or social security number,” and likewise, many are sharing their results publicly, including on social media and on sites like GEDmatch.
For those of you who don’t know GEDmatch, it is a website that allows users to upload genetic data from other testing companies and analyze it using tools on the website. Many people end up sharing their data publicly, which is what allowed authorities to track down the Golden State Serial Killer. By uploading a sample of his DNA collected from a crime scene, and then comparing it against the GEDmatch database, they were able to identify him by way of distant relatives.
Now I appreciate that busting a serial killer using a platform like this may sound like a good thing, and from one perspective it is, but it also speaks to the growing lack of genetic privacy all of us are facing. This point is illustrated by a November 2018 study from researchers at Columbia University. They found that a genetic database needs to cover only 2% of a target population to find a third-cousin match for nearly any person.
And while it is true that at this point, most genetic data is not publicly accessible like it is on GEDmatch, there are still security concerns. Remember, no tech is 100% safe, and there have already been data breaches in the industry, such as the 2019 Veritas Genetics hack, which resulted in unauthorized access of some consumer information.
The fear here, is that this kind of data in the wrong hands could be very dangerous. For though the US GINA Act protects us from genetic discrimination in health insurance and employment, it doesn’t apply to disability, life, or long-term care insurance, as well as businesses that have fewer than 15 employees.
And so that leads us to our final point, which ties all of this together. The way these products are marketed, much like how Theranos positioned its products, is all about leading consumers to believe the tests are completely safe and that they will experience a revolution in their health and life. But the industry is simply not there yet, and for companies to make promises that lead consumers to believe otherwise, is in many ways unethical, and potentially harmful.
So given the fact that these tests are built on questionable utility, and the majority of consumers lack a sufficient degree of genetic literacy to judge the potential benefits and risks, I call on all of the direct-to-consumer genetic companies to go above and beyond to protect consumers safety.
Leading with overstated aspirational promises, and burying any mention of the potential risks in complex legal documents or rarely viewed web pages is not enough.
As someone who works in user experience and product management, I appreciate the difficulty of building a digital product like this, but we are not talking about a consumer’s search history or patterns of likes. This is their genome. We can not afford to be careless.
We must approach this industry cautiously and work to get some safeguards in place, for as we saw with Theranos, visionaries can fool themselves, and in the process, harm consumers.
That does not mean consumer DNA tests should be taken off the market, but it does mean we all need to be critical about the way these tests are researched, designed, marketed, regulated, and consumed.
Learn More About my Direct-to-Consumer Genetics (DTCG) Research