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Who cares if your genome is ready for prime-time, when it’s available on demand?

On Monday the consumer genomics company Helix launched a “DNA App Store:” a one-stop interpretation shop for your personal genomic information. Commercialization of personal genetic information has been gaining momentum for over a decade, mostly through direct-to-consumer testing companies such as 23andMe and AncestryDNA, but this announcement from Helix seems to represent a phase change. Watching the fallout online (including some excellent coverage by the MIT Technology Review and Wired), this development strikes me as a Rorschach test for one’s feelings about personal genomics in general. You may cheer the further democratization of the genome: give people their data, damn it! (Though note, Helix actually doesn’t let people download their “raw” genetic data.) More likely, if you’re in the genetics research or medical community, you’re nauseated at the further commodification of genetics and interpretive overstepping of companies in this space. My reaction is mixed — I’ll give a few quick takes below.

But first, a summary of what Helix is doing. The company spun off from Illumina, the genetic technology giant that has dominated the DNA sequencing space for many years now. For a flat fee of $80, the Helix consumer service will sequence your exome, or the ~3% of your genetic material that codes for proteins. Helix holds onto your exome sequence for you and then let’s you choose from a menu of interpretation services: this is the “DNA app store.” The services currently come in six categories: ancestry, entertainment, family, fitness, health and nutrition. These services are being developed by other companies and laboratories, then being somehow vetted by Helix to become an offering to their exome sequencing customers. Current ones include “Wine Explorer” by Vinome, which makes wine recommendations based on select genetic variants; an “Inherited Diabetes” analysis by Admera Health; and a determination of which traits may originate from Neanderthal ancestors, from Insitome. Also not to be overlooked: a company that will make a custom scarf based on your DNA sequence.

 The Good

Before I get too snarky, I do want to point out some potential benefits of services like this.

  • People may get excited about and interested in genetics. And they may just have some fun.
  • People may take the time to learn more about the science behind some of these products (including the limitations). Increasing “genetic literacy” through this avenue could benefit people when encountering genetics in a more serious venue — for example, in a clinical test.
  • Some traits and conditions have a primarily genetic cause that is easy to detect and can lead to improved health and quality of life. A good example is hereditary hemochromatosis (HH): while not currently in the Helix app store, it’s relatively straightforward to test for the known causal variants in the HFE gene, and it can help people access simple yet impactful treatment (regularly donating blood can have a huge impact on people with HH). Note most common diseases are not so genetically simple, so this is currently a slim category of consumer genomics tests with useful health impact.

 The Bad

  • People may waste time and money on these services.
  • The information may be inaccurate and misleading.
  • People may start to think of genetic information as frivolous and unreliable. This could pose a problem for an envisioned future of health care that integrates genetic information. If people’s first exposure to their genteics is in this often scientifically flimsy space of gee-whiz-adry, they may have a hard time taking it seriously down the road.

Ultimately, many of these consumer-facing interpretive services seem to me like Narcissusome sequencers. We thirst for personal data, regardless of its relevance or utility, and can easily get lost in the fascination of it all.

Narcissus and DNA
The Greek myth of Narcissus: here pictured lovingly staring at a DNA double helix. (Image compiled from Wikimedia Commons Lépicié, “Narcisse,” 1771; and 3d Model DNA 3.0 by Dido Franza, from https://free3d.com/3d-model/dna-30-16257.html.)

I too am fascinated by genetics—that’s what drew me to the field I work and study in today. But we need to keep a healthy dose of skepticism moving forward, as I suspect in the coming years we will see many more like the Helix app store.

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