Matt Artz‘s TEDx Talk, Are DNA Tests Safe? looks at the ethical considerations of using a consumer DNA test.
Today I’m going to talk about direct-to-consumer genetics. I’m going to share why consumers should approach these tests with caution and why companies need to do more to protect consumer 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 open 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 is 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 incessant amount of advertising you’ve seen everywhere. These ads are usually full of diverse smiling families. Presumably, they are smiling because they’ve just learned something that will change their life, or at least that is what we’re 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 direct-to-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 consumer safety. That is because most consumer genetic companies, like Theranos before them, are using emotional marketing to persuade consumers to take these tests. As a result, an estimated 30 million consumers in the US have already adopted one, despite many in the science community expressing concern. And while it is true that genomics, broadly speaking, will one day lead to many transformative outcomes, my research has turned up many concerns that all of us need to be aware of if we’re going to take a consumer DNA test. So, the primary concern involves genetic literacy. In the course of my research, I found that the majority of participants I interviewed lack the knowledge at this point to judge the potential benefits and risks of taking one of these tests. Now, this shouldn’t come as a surprise since most of us are not trained in genetics, but what was so concerning was the fact that the majority of people I interviewed had an almost blind faith to the companies and the test simply because it’s marketed as “science.” And this potentially misplaced sense of trust underscores all the other problems I’m going to talk about today. So, building on that, there is a question about the utility or the ability of these tests to provide useful information. Many studies over the past decade call attention to the limited predictiveness of these tests. The problem is science is still working to understand the complexities of the human genome, and while we have made great strides, our knowledge is still evolving. This is particularly true for conditions which are based on multiple genes or influenced by non-genetic factors. 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 whole genomes or have a deep understanding of a consumer’s medical history and lifestyle. So given those limitations, most people will not get medically useful information, and some may even be misled. To demonstrate this point, I call attention to a December 2019 Wall Street Journal story, in which a family of seven women were led to believe that they had an elevated risk of breast cancer based on a biuret 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 may not actually be at risk. So, should these women have known that the results might change? Possibly. To be fair, the consumer genetic companies do call attention to the fact that the results may change over time, but a problem like we just heard is happening because consumers have been able to purchase these tests directly online without any required medical guidance before or after the test. And so, that leads us to the next problem, which involves informed consent. Though the companies do require consumers to opt in to the terms of service when taking these tests, most people simply are not reading them. So, quick question, by a show of hands, how many of you read the terms of online contracts? (Laughter) That is what I thought. And you’re not alone. In a survey of 353 of these users, I found that 52% did not read the terms, and only 23% partially read them. So this is a really significant problem because consumers are paying to take 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 that information, what is legal is not always the same as what is ethical. So now building on that, the next problem relates to privacy and security. Many participants in my research would make statements such as “My DNA is like ‘less important’ than my credit card or social security number.” As a result, many of them are sharing their data widely, including on social media and on sites like GEDmatch. For those of you who don’t know GEDmatch, it’s a website that allows users to upload genetic data obtained from other testing companies and analyze it using tools on the site. Most 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 comparing it against the GEDmatch database, they were able to identify him based on 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 the growing lack of privacy all of us are facing. To illustrate this point, I call attention to 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 in that target population. And while it is true that at this time, 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 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 most of us against genetic discrimination in employment and health insurance, it does not protect us against discrimination with life, disability, or long-term care insurance, as well as employees of businesses that hire fewer than 15 people. And so that leads us to our final point, which ties all of this together. The way that these tests are marketed, much like how Theranos positioned its products, is all about leading consumers to believe that these 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 us as 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 consumer safety. Leading with overstated aspirational promises and burying any mention of the risk 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 in building a product like this, but we are not talking about a consumer’s search history or pattern of likes. This is their genome; we cannot afford to be careless. We must work to get some safeguards in place and approach this industry very cautiously. For as we saw with Theranos, visionaries can fool themselves and, in the process, harm us as consumers. That does not mean that consumer DNA tests should be taken off the market, but it does mean we all need to be critical about the way that these tests are researched, designed, marketed, regulated, and consumed. Thank you. (Applause)