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Why we’re on the brink of the next great discovery: you.

When I look at DNA and the potential for discovery, I like to draw a comparison to space exploration: at the turn of the 20th century, the Wright brothers recorded the first flight in human history; it lasted 12 seconds. Around the same time, Alfred Sturtevant created the first gene map in history, for a fruit fly. Both of these events propelled two great tracks of human discovery that we’re still just at the beginning of today. Fast forward to 2003, and the full human genome was completed and published thanks to the Human Genome Project. Today, as companies like Virgin and SpaceX embark on making personal space travel a reality, Helix is unlocking the power of personal DNA insights for everyday use.
I joined Helix in the summer of 2016 because I saw some unique factors intersecting to enable an incredible new opportunity in DNA discovery:

  • Consumers are already accustomed to personalized experiences which are common in areas like digital fitness and health trackers.
  • The cost of genomic sequencing is rapidly decreasing, while speed and quality is increasing.
  • Consumers are now familiar with how DNA can inform aspects of life like health and ancestry, signalling that they’re ready for products that use DNA everyday, from fitness and nutrition, to lifestyle choices like the wine you drink or the food you eat.

Francis Collins, the director of NHGRI, noted that the genome could be thought of in terms of a book with multiple uses: “It’s a history book — a narrative of the journey of our species through time. It’s a shop manual, with an incredibly detailed blueprint for building every human cell. And it’s a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease.”
In the early 1990s, when I was an elite cyclist, I spent four years racing in Europe for the Swiss Helvetica-Lugano team. One of the advantages of being an athlete at this level is the tremendous investment that the teams make to create a holistic picture of an individual athlete. Today, thanks to the advances in technology — like the geo-tracking used in MapMyFitness or wearables like Garmin or Fitbit — the level of information available to professional athletes at a huge cost is now either free or relatively inexpensive for everyday consumers. Pair this with the high rate of consumer adoption of digital health products (only 12% of consumers have not used a digital health product), and you can start to imagine the wealth of information people are able to capture about themselves. There has never been so much phenotypic information recorded and stored for analysis.
It’s clear from the widespread use of these health and fitness trackers — which range from pedometers to fertility tracking and more — that the idea of using personal information to inform decisions every day is commonplace. The challenge for a lot of people in using these products is adherence. Typical habit forming behavior hasn’t changed that much, whether it’s going to the gym, or repeat visits to the doctor, and it’s the same with digital health products; people drop off because they don’t see the desired outcomes. Sometimes simply tracking behavior isn’t enough to motivate an individual (at least in the long term), and further, more personalized insights are needed to develop the big picture. For example, you could be tracking your sleep every night, and have an accurate record of the number of hours you’ve slept. But somehow, you just can’t fall asleep at your desired bedtime. Now imagine that your sleep tracker incorporated your DNA, and you learned that you metabolize caffeine slower than others. Knowing that DNA information gives context that the coffee you had at 1 pm may be the reason you can’t fall asleep. For the first time, you have access to a more complete view of your health. And, if you can help change health outcomes, the adherence to these products will change.
Our understanding of how DNA can be used to inform various aspects of our lives is expanding. By taking a cue from what we’ve learned from existing health tracking products, we can safely say that the success of using DNA for everyday decisions depends on context. The missing piece to this whole-health puzzle is the personalized aspect of genomics — the understanding of how your DNA uniquely contributes to the bigger picture. Merging the existing datasets that people are already tracking together with DNA to give a holistic picture of the individual is the key. At Helix, we’re aiming to service a number of categories, including genealogy, fitness, nutrition, medical, entertainment, and family.
We’re on the edge of this DNA knowledge becoming the next great evolution in technology. As more data becomes available, the use of genomics for every use will normalize. Combined with this normalization of DNA in the public eye, the enormous cost of sequencing that prevented access to genetic information for most people is eroding. In 2003, the estimated cost for generating that initial “draft” human genome sequence was approximately $300 million. Today, sequencing your entire genome is considerably less.
There are also advances that allow us to be more efficient with sequencing, like choosing to sequence the exome and other well understood portions of the genome, rather than the entire thing. This sequencing method looks only at the protein-coding regions of a genome, which reside within DNA segments called “exons” and reflect the currently “best understood” part of most genomes. At the time I write this, you can get the National Geographic Geno 2.0 kit powered by Helix next generation sequencing for less than $200.
We expect that consumer generated data is something that physicians will use regularly, and we think personal DNA powered-products will be a big part of that. Especially when you’re talking about conditions like cardiomyopathy, cancers, Alzheimer’s, and much larger health topics, consumers will suddenly be educated through genetic counseling about the potential of DNA information improving their lives, and the processes to educate the population on the whole are important. We recognize the responsibility we have in this area, and that’s why we’re proud to have partners like Mount Sinai, Invitae and the Mayo Clinic who each have structured programs in place to educate physicians on genetic conditions. The more we can help the consumer have productive and informed conversations with their physicians, the better their understanding will be.
You may have seen the recent news from the FDA that recently authorized direct-to-consumer tests, signaling its recognition that there is value in consumers having direct access to certain genetic information. This is a really positive signal from the FDA on the status of personal genomics and its value in empowering people to better understand their health. Their change in stance on personal health reports tells us that the timing right for a platform that can enable consumers to get the right context from their DNA to inform their health choices. We believe that everyone should have access to their DNA information and that it should be done responsibly.
A large part of normalizing the use of DNA is earning trust from our consumers. I like to use the old adage: trust is earned in drops and lost in buckets. From an organizational perspective, privacy and security are top of mind; not only in how we store data, but also in how we create a platform that keeps our customers safe. In the United States, there are laws like the Genetic Information Nondiscrimination Act (GINA) that protect individuals from discrimination against pre-existing conditions. But, I don’t think we can rely on regulations alone. I believe that we all have a role to play and every company must put the individual’s best interest at the very top of their priority list. Every day we have a responsibility to demonstrate trustworthiness to the consumer by being transparent about where their data goes, how it gets shared, and that each customer is in control of their authentication. We are committed to proving every day that anyone who chooses to use our service, can trust Helix as a responsible steward of their most private information.
We are still very early in the days of people having access to their genomic information, but eventually it will be very common, so we’re building future-forward products with this in mind. The work we’re doing with our platform partners and products, as well as others in the personal genomics space, is helping to make this information more broadly available to people so they can complete their whole health picture. As personal genomics becomes as familiar as seeing astronauts in space, the potential to empower people with their personal DNA information becomes limitless.