Cecile Janssens, PhD, is a research professor of translational epidemiology at Emory University.
James Lu, MD, PhD, is a co-founder and a senior vice president at Helix.
Yes: The Problem with ‘Trust Us’ Consumer Genetics
By Cecile Janssens, PhD
The online market for consumer genetic testing is booming, and not for the first time. The completion of the Human Genome Project in 2003 and the early successes of genome-wide association studies in 2007 gave rise to direct-to-consumer (DTC) genetic testing companies. But their lifestyle and nutrition DNA tests were premature; there was no scientific evidence that DNA could personalize diets in a meaningful way or predict risks of common diseases like diabetes much better than a coin toss. Most of those companies have closed.
The evidence is still not there, and this makes the revival of online DNA testing for health, nutrition, and exercise ironic. In the last decade, researchers have discovered thousands of DNA variants that are implicated in the risk of common diseases, but this has not yet translated into tests that can provide useful predictions of risk for common diseases or a solid basis for personalized lifestyle recommendations.
The lack of scientific evidence has not stopped companies from offering genetic tests for non-medical purposes. DNA tests that are used to personalize diets and wine recommendations do not require FDA approval. With lifestyle genetic testing, it’s a free market — the consumer decides. What matters is truth in advertising: Federal law requires that advertising “must be truthful, not misleading, and, when appropriate, backed by scientific evidence.”
So, are the companies on Helix, a new online marketplace for DNA tests, promising outcomes they cannot deliver? Well, maybe not.
A fitness plan that is “customized to your DNA” does not claim that it works better than those that are not customized. And the company that makes wine recommendations “tailored to your taste preferences and scientifically selected on your DNA” does not guarantee that you will like them more than vintages recommended by Wine Spectator. Nor does the company claim that the DNA testing makes scientific sense. Helix is open about the impact of DNA. In plain language, it informs consumers that sleep, weight loss, and wine preferences are influenced by “mostly other factors.”
Helix does check the science behind the DNA tests, but its bar is rather low. The company verifies only whether the genetic variants are associated with the reported traits in more than one study. For the wine recommendations, this means that the company has verified that one or more variants in the tested TAS2R50 gene are linked to cilantro preference and that the TAS2R20 gene influences bitter taste perception. Whether the company verifies how the DNA test results are combined with the self-report questionnaire data to generate personalized recommendations remains unclear.
When Helix’s partner companies combine self-reported information with genetic markers to make predictions, Helix applies “a standard rubric scientists would use to evaluate the quality of a prediction.” As a genetic epidemiologist, my job is to parse these kinds of predictions, but for the life of me, I don’t know which standard rubric the company refers to, and I have no clue how the rubrics that I am aware of can be applied to the wine, diet, and exercise “predictions.” Or is Helix saying that the companies don’t combine the DNA and questionnaire data but use each separately as a basis for individual recommendations?
This is the big unknown in lifestyle genetics: How are genetic and self-reported data combined to inform personalized recommendations? How much do genetically personalized recommendations differ from recommendations made using only questionnaires? And how do companies know which recommendations are optimal for each customer? The scientific literature has no answer to these questions, and it is likely that the companies do not either.
I expect that the “proprietary algorithms” of the companies are unsophisticated — a compilation of scientific associations and extrapolated common sense. The recipe for creating genetically personalized diets may be as simple as selecting a set of genes that alters the impact of a nutrient on a certain outcome; find the nutrient’s recommended daily allowance; obtain the customer’s current intake from a questionnaire; calculate the differences between the two as the suggested changes in diet; and recommend a bit more or less, depending on the genotype. The “genetically personalized diet” is essentially a set of tweaked generic recommendations.
To be clear, I don’t know whether this is true. The companies’ tests may be sophisticated, and they may have in-house scientific evidence. But none of the companies will share its methods. That said, I have no reason to expect that if I looked inside the black box, I would find sufficient evidence for making personalized predictions. Their tests may be more advanced than I picture, but it is unlikely that they have evidence that your recommendations are better than one-size-fits-all advice. It’s up to the industry to prove otherwise.
The DTC industry values transparency, but the proprietary algorithms leave consumers in the dark about the testing’s value. This secrecy is remarkable: A driving force of the industry is that consumers should decide whether a test is useful, yet consumers are not given the necessary information with which to make those decisions. In the absence of scientific evidence, consumers should demand this insight into the validity of the services. Until then, let the buyer beware.
No: An Opportunity for Education and Engagement
By James Lu, MD, PhD
There has been a flowering of novel applications in recent years that utilize DNA information to educate, inform, and delight. These new uses — often recreational by design — are a departure from historical uses of genetic data, which have been primarily research or clinical. While there has been some concern about these new applications, Helix believes that the personal use of genetic data provides new opportunities for education and engagement that can be offered safely and securely, without taking anything away from the value of genetic data to the research and health communities.
Applications for novel technologies are often hard to predict. As technology becomes more accessible and ubiquitous, it frequently morphs, powering increasingly novel uses. Although originally conceived as a mechanism to deliver more accurate missiles, global positioning system (GPS) sensors eventually became more accessible as costs dropped. As a result, location-based data eventually became the key enabler of wristwatches, mapping applications, on-demand transportation services, local restaurant recommendations, and eventually even Pokémon Go. These uses — far removed from their military origins — have fundamentally reshaped the way we work, play, and interact. And individuals, as a result, have learned to separate the technology (in this case, GPS) from the application. Of course, none of the consumer uses of GPS detract from the serious military uses of the technology.
Genomics is likely to follow a similar path. The growth of new applications will teach individuals to distinguish the underlying technology from its various incarnations. While these applications will often diverge from traditional uses, Helix does not believe they will detract from the importance of genetics in researching or diagnosing human disease.
We also believe that individuals have a right to determine how to utilize their personal data, and individuals will expect to exercise this right with their DNA information. For some people, this means that they will only use their DNA information in a strictly diagnostic capacity. However, there are likely others who would like to use their DNA information to answer other questions that are important to them, such as ones about their ancestral heritage or their physical traits. Provided that applications are safe, accurate, and transparent about the impact of genetics on the product, consumers should have the right to choose the products they want to use.
We propose that these three factors — safety, accuracy, and transparency — are the main guidelines for determining whether a DNA product should be made available. Products that use DNA information in a way to cause harm to a customer or a related individual should be mitigated. This may be through encouraging easy-to-understand language or requiring health partners to have laboratory licensure, physician oversight, and genetic counseling. If the risks can’t be mitigated, then the availability of the product should be limited.
Products should be also be accurate. This means that the variant calls have a known and acceptable error rate, that the translation of a variant call into a claim is correct, and that the claim is supported by the underlying science. The literature review underlying any association between genotype and trait is often the most subjective, but it is generally advantageous to favor evidence that derives from large sample sizes, is statistically significant, and that has been replicated. Exaggerated claims that are not supported by scientific evidence should be removed.
Lastly, individuals should be encouraged to make educated purchasing decisions. That means that transparent, easy-to-read language should be used to describe what is in and not in different products. At Helix, we’ve pioneered a few efforts in this area, including creating categories of products ranging from “Entertainment” — which includes items like DNA-personalized socks — to “Health,” which includes traditional medical genetics tests like familial hypercholesterolemia (Inherited Cholesterol Test). We’ve created detailed product pages for each product and included a Science section that features an easy-to-
understand visual gauge that communicates in plain terms how heavily its insights are derived from genetics versus environment. We’ve found that such efforts have been well received by our customers.
DNA information will soon be everywhere. We should be wary of real pitfalls that may stem from its rapid growth. These include real harms that may result from poorly characterized or inaccurate results, incomplete but well-intentioned privacy policies, and exaggerated claims. However, if appropriate guardrails are in place, we believe that novel applications provide an opportunity to educate, teach, engage, and entertain the lay public, healthcare professionals, and genetics experts alike. The question shouldn’t be whether recreational use of DNA information detracts from medical uses. Rather, let’s ask how can we establish appropriate frameworks so that all people can improve their lives by having access to their DNA information.