For personal genomics, 2017 was a year to remember—in so many ways

Robin Thurston

For many, the start of a new year is an opportunity to reflect, set goals, and get ready for the year ahead. That’s certainly true for Helix. We’ve spent recent weeks putting the finishing touches on a whirlwind 2017 and ensuring we’re laser-focused on delivering our mission: to empower every person to improve their life through DNA. While we’re tremendously encouraged by the momentum we saw across the consumer genomics industry last year, we’re even more excited for what’s ahead in 2018.

Take our recently announced partnership with the Healthy Nevada Project, for example, which will make Helix sequencing available to tens of thousands of Nevadans starting this spring and open a promising new avenue of research for community-based health. By connecting users with clinical-grade genetic information, we have an unprecedented opportunity to help further understanding of the human genome in partnership with Renown Health and its partners. As we’ve said before, we believe this will usher in a new age of personalized healthcare—and with it, healthier, happier people who live longer lives.

In 2017, we saw movement across the industry that tells us we’re on the right path. The record $1.5 billion raised by genetics companies last year validates our confidence that personal genomics is poised for big growth—and, eventually, a future where genomic data is available to everyone throughout their entire lives. These successes in fundraising have been buttressed by two very important realities in our business. First, consumer interest in DNA is accelerating: Of the roughly 12 million consumers who’ve gotten a DNA test to date, over 7 million did so in 2017 alone. At the same time, the cost of sequencing is falling dramatically, thanks in no small part to Illumina’s technology and research. The barriers of entry to incredibly powerful health tools like whole exome sequencing are falling away, and investors are clearly sharing our confidence that genome information is the essential scaffold upon which the future of healthcare will be built. A platform like Helix is enabling unprecedented access and innovation in personal genomics both in the health category and beyond, and we are just getting started.

Commercial interest in Next Generation Sequencing (NGS), which lies at the core of Illumina’s next gen technology and underpins the Helix platform, exceeded Illumina’s expectations in 2017. This is a clear case of a rising tide that lifts all ships: Illumina’s commitment to innovation and cost-effective sequencing is encouraging even more adoption and fostering massive research initiatives. It is already enabling entire categories of care, helping medical professionals diagnose rare disease and make targeted therapeutic decisions with unparalleled precision.

On the topic of health, 2017 moved the needle on regulation of the personal genomics industry in important ways. This industry is still very young—the first consumer genetic tests came to market in 2000—and we believe that regulation will be a critical tool in ensuring safety for users. The FDA’s groundbreaking approval of genetic risk reports in direct-to-consumer tests last April shows us that regulators understand the value of these types of tests in helping individuals better understand their health. It also helps users augment their health picture quickly, effectively, and in a way that works for them. The industry-leading CLIA- and CAP-accredited lab that Helix operates is a testament to how seriously we take safety and quality in delivering genetic results, and it will become even more important as we ramp up our support for health products and community health initiatives. To that end, you’ll hear much more about how Helix has made the health category a priority in the months to come.

Opportunities for Helix to have an impact in community health and population genetics will multiply as more and more organizations recognize the potential. The National Institutes of Health’s All of Us project, which seeks to sequence a million volunteers, started accepting participants as part of a beta phase in 2017, and the UK Biobank’s 500,000-strong cohort will yield insights for many years to come. Helix partner Geisinger announced in June of last year that it hit the 150,000 sign-up milestone for its MyCode community health initiative. As incredible as these projects are in their ambition and scale, they’re only the beginning. We believe that we are enabling a world where accessing valuable DNA insights is as routine as checking your blood pressure, and in turn, a world where researchers are able to make many more actionable connections between our DNA and our health.

We recognize that critics of personal genomics still exist, and we welcome their voices—it’s partly through continued scrutiny and spirited debate that this industry will operate at its best. But we also encourage these critics to join us in looking back on 2017. From celebrating a family’s ancestral origins to identifying underdiagnosed conditions, the signs are everywhere that genetic information can help people live healthier, happier lives. Large-scale sequencing of exomes and genomes is inevitable, and it’s incumbent upon us to help ensure that it happens in a safe, responsible, and impactful way.

My colleague Justin Kao recently related a story to me that perfectly illustrates why we are so excited for this industry and for the year ahead. Attending the Precision Medicine World Conference several weeks ago, Justin was discussing the future of population-scale sequencing with a number of science and industry leaders, including members of our own Scientific Advisory Board. He told me that he was struck by how three simple but fundamental changes will transform the way that genomic research is done. First, by putting individuals at the center of the conversation—giving them access to their own information in exchange for their participation, instead of thinking in terms of static “samples”—we are able to engage in longitudinal studies and build much richer and larger cohorts than ever before possible. Second, by sequencing hundreds of millions of healthy people and combining their genomes with other datasets such as EMRs and behavioral data, we will understand far more about disease because we will start to explore more deeply the healthy baseline and the progression and prevention of disease. And finally, by transforming genomics into an “on demand” model both from a cost standpoint and from a speed standpoint (where the genome is sequenced upfront with virtual panels available instantly at any point in the future), we will enable new research models that have never before been possible. The excitement at Justin’s table for these advancements was palpable.

There’s growing excitement within Helix, too, because we believe that our model will lie at the heart of these advancements. So now we turn our attention back to the year ahead, energized by the innovation, investment, and hard work we saw in 2017 from our colleagues and friends across the industry. For Helix, 2018 will be a year of firsts: our first full calendar year of operation for the Helix Store, the first opportunity for many of our new customers to be sequenced. We’re excited to see where it leads, what discoveries will be made, and how our partners will bring innovative products to the Helix ecosystem.

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