Scientific garbage for $300
What the DNA test from the American company Helix gave me
Kirill Kazakov, vc.ru
A short translation of the material by The Verge author Angela Chen about a genetic study that did not meet expectations.
Angela Chen decided to run a half marathon and in the process of preparing for it resorted to all sorts of ways to improve her performance. She counted calories, studied forum posts, and used various apps and devices.
It seemed to her that none of the sources gave clear recommendations. Therefore, Angela decided to do a genetic test, which was supposed to reveal all the secrets of her body. Then she would be able to direct the training in the right direction.
To analyze her DNA, Chen used the services of Helix, one of the organizations involved in consumer genomics. They work as follows: Helix sends a special set with which the client collects samples.
Then you need to send the data back to the company, where specialists will perform sequencing. After that, you can order various tests from Helix partners and find out, for example, the predisposition to genetic diseases, the appearance of your unborn child or which wine is most suitable.
Chen opted for an analysis of Fitness Diet Pro from DNAfit for $220 (another $80 was the same set from Helix). The result promised to be impressive: the author would be able to completely rebuild training and nutrition in accordance with the genetic characteristics of her body.
The conclusions turned out to be interesting, but there was nothing in them that Chen did not know about her body, and even more so any special recommendations.
Advanced sequencing techniques
Today, thanks to numerous breakthroughs in the field of genomics, sequencing (determination of their amino acid or nucleotide sequence – vc.ru ) it costs 400 thousand times less than in 2001 (initially, they were going to spend $3 billion on the Human Genome project). And it's not just the price – the methods themselves are becoming more and more perfect.
Helix also uses one of the advanced methods. The company sequences long stretches of DNA that encode certain genes. Professor Steven Salzberg notes that this method is especially useful in the search for rare genetic diseases: in one of the studies, scientists sequenced the exome (one of the parts of the genome – ed.) a person with a genetic disease and the exome of his healthy parents, and then compared both chains.
The results of a genetic examination can tell a lot about a person's ancestors or, say, about a predisposition to cancer and other ailments. There is a huge amount of literature on the ethics of such tests and the impact they have on our choice.
In the case of Chen, this is not so important: she has already ordered a similar test from 23andMe, which showed that she is a relatively healthy person.
But she wanted to be even better. An analysis like Fitness Diet Pro shows which variation of the gene is responsible for a particular function of the body, for example, for the speed of muscle contraction. In theory, having such information, a person will know what exercises to do and what food to eat.
But this only works if the research results are scientifically sound. Geneticist Eric Topol on Twitter spoke sharply in the direction of Helix, writing that "the company is a disgrace to consumer genomics," since the results of its tests are not supported by anything.
At the same time, Topol admits: he is a big fan of consumer genomics, but only the one behind which there are real studies. This means that companies need to provide users with access to their genetic information and provide only results supported by science: for example, to talk about the interaction of drugs with DNA.
"I think Helix could become a serious and important company if they got rid of unscientific ugliness. But this does not seem to happen" (Eric Topol, geneticist).
"Sequencing is good," the scientist continues, "but that's not the point." If genetic screening still has a good scientific basis, then the numerous additional analyses provided by Helix are just dummies (and the same wine test was ridiculed even before it appeared).
"Consumers suffer from this, as they usually do not have the opportunity and time to understand a scientific article, access to which is still closed. And then how do you know where the truth is?" (Eric Topol, geneticist).
Research results and recommendations
Six weeks after sending the data, Chen received Fitness Diet Pro recommendations–a large PDF document with vivid graphs and photos of people much healthier than her.
The specialists who compiled it clearly did not want to promise too much. It's understandable: the FDA once ordered 23andMe to stop selling because the company positioned itself as a provider of health information without having the appropriate permits.
Founder of DNAfit and former Olympic athlete Andrew Steele helped Chen figure out the results and gave her some advice. At the Beijing Olympics, he won bronze in the 400-meter relay, although he does not have a gene variant that affects rapid muscle contraction.
"Yes, I have achieved some success, but it was failures and mistakes that made me turn to genetics." (Andrew Steele, Olympic athlete).
The athlete's recommendations turned out to be very thorough, he clearly knows a lot about nutrition and training.
Steele advised Angela to do some exercises like squats with the support of a gym ball to strengthen her knees and reduce the risk of soft tissue damage (the analysis says that it is quite high).
On the other hand, Chen, according to the report, spends less time on average on recovery. To "take advantage" of this advantage, Steele turned his attention to interval training.
The diet section described the author as "normal" in every way. But to compensate for the lack of a gene responsible for better liver function, Steele recommended eating more broccoli.
For Chen, some of the recommendations of Fitness Diet Pro turned out to be inapplicable, since she is Asian, and research is mainly conducted with the biological material of whites.
Most of the "unique information" was already known to her from personal experience. So, she is much more sensitive to caffeine than others. Steele's advice, though, was given knowledgeably, but on Reddit many users advise the same thing. And everyone needs to eat more broccoli and less sweets.
But neither Helix's advanced technology nor Steele's knowledge guarantee that Chen will be able to run a half marathon. Some studies show that we rarely listen to the fact that we have a genetic predisposition to some disease.
That's why we don't quit smoking or start using sunscreen. We pay more attention to the immediate danger, and genetics seems too abstract to force us to change behavior and eat more broccoli.
Disadvantages of the Helix business model
Unlike the quality of exome sequencing, Helix's business model leaves much to be desired. To begin with, you do not have access to your own genetic information, that is, you cannot use it if you want to conduct a test not with the company's partners, share data with a doctor or take part in some kind of research.
But Helix recently announced that access to its data will soon be available for an additional fee.
In addition, Helix shares your genetic information with partners who may have different privacy policies. DNAfit, for example, does not sell information about you to third parties.
The Vinome company, which will tell you the most suitable wine, also follows this rule and adds that the user will not have rights to any developments using a personal genome. On the contrary, some of the Helix partners admit that they can share customers' genetic data with third-party organizations.
In addition, such an approach in itself harms science. Despite the fact that Helix offers about 30 types of analyses and cooperates with strong organizations, the company seems to be holding back progress.
The Mayo Clinic, for example, is working with Helix to create an application that combines genetics and education: users will be able to learn about autosomes or pharmacogenetics using their own DNA as an example. The aspiration is more than commendable, but Helix is a closed system, so a significant part of the data will remain blocked.
Helix Vice President James Lu put it this way: "People have to decide for themselves what is useful and what is not." In his opinion, the company's goal is to provide people with scientifically based information and make sure that they understand it and make the right decisions based on it.
Genetics, unlike, for example, astrology, can be relied upon. This serious discipline helps to look at the real natal chart – DNA. But science, even with accurate data, can be useless. And treating it as entertainment can lead to bad consequences.
Science can be fun. From the 23andMe report, Chen found out what kind of earwax she has and whether she sneezes in bright light. But she also learned about the predisposition to various diseases.
Helix gives only ambiguous data. If a company is trying to introduce science to the public in this way, it is better to find another way.
Genetic data explains only a small part of your physical results, if you are not a professional athlete (this is indicated by the tests themselves).
According to the professor Brian Zikmund-Fischer, other factors play a much bigger role, for example, the regularity of classes. After all, the external environment has a more significant impact on our health.
Angela Chen believes that it is foolish to rely solely on the results of such tests, since personal interaction is much more important. The data from Helix will hardly harm you, but it will also bring little benefit.
If you love multi-kilometer races, but the genes say otherwise, why deny yourself. After all, despite all the recommendations, no company will force you to go out for a run in the cold or in the rain.
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