All this brings us to emerging improvements in analysis technologies and platforms for consumer genomics. One of the new entrants is Helix, a consumer-focused genomics startup backed by Illumina. Utilizing exome sequencing, supplemented with single nucleotide polymorphism (SNP) positions that span the genome, Helix aims to go beyond the SNP-chip paradigm championed by current market leaders such as Ancestry and 23andMe. Meanwhile, Veritas Genetics, a well-funded Cambridge, MA, startup aims to take whole-genome sequencing (WGS) to the public. Fifteen years after the Human Genome Project, which cost about $3 billion dollars, Veritas is commercializing a retail product that provides a high-quality sequence for $1000. Gencove, a startup based in New York City, takes a middle ground between SNP arrays and full genome sequencing. Gencove has developed an affordable low-coverage WGS assay that represents an improvement over current SNP array technology, with coverage under 1×. The low-coverage sequencing assay is paired with imputation to deliver a product that is not only competitive but has advantages over SNP arrays in terms of cost and avoidance of ascertainment bias. We suspect that the SNP array era of the 2010s will be superseded by the sequencing decade of the 2020s.

Although the number of genotyped and sequenced consumers has increased greatly, the services and products offered to make sense of their data remain curiously limited. This deficit might be a function of the late 2013 Food and Drug Administration (FDA) debacle with 23andMe, which cast a pall over the whole sector. Prior to the end of 2013, 23andMe had been providing a wide array of medically relevant analyses. In 2013, the FDA told the company that they could no longer do this, as these were unapproved ‘medical tests’. The firm could only provide information on ancestry and nonmedical traits to their future customers. Fortunately, over the past few years, 23andMe has established an avenue of communication with the FDA and, more importantly, a path for FDA approval for its tests [7]. 23andMe’s carrier screening markers are now FDA approved. The future looks bright, if still not totally certain.

Smaller companies such as Promethease, which leverage raw data generated by 23andMe, Ancestry, and others, continue to occupy a niche in analyzing genetic information. Using public data and stitching it together in a rough and basic user interface, Promethease and other such companies aim to eliminate the intermediaries between the consumer and the data. Instead of an institution or geneticist serving as a guide, these companies aim to educate the public in a raw and direct fashion, albeit with some controversy.

Helix and Gencove take a third approach. Instead of providing the full stack of services or leveraging the raw data provided by third parties, these two companies want to be technology platforms for other independent players and foster an ecosystem of analysis applications for consumers. Helix seems to be modeling its ecosystems on the iTunes store, where Apple hosts and approves applications for consumers who already trust their brand and utilize their hardware platform. The difference here is that Helix is not an established brand and does not yet have a dedicated customer base. Remember that when the iTunes Store debuted in 2008, Apple was not a new company; it had sold more than 5 million computers and more than 50 million iPods.

The need for a strong brand is probably one reason why Helix partnered with National Geographic, whose legacy reaches back over a century. In addition, it is partnering with blue-chip institutions such as the Mayo Clinic and with innovative companies such as Invitae. However, establishing a brand and a customer base are only part of the challenge of growing a successful app store. There are near infinite things you can do with a mobile computer, a camera, and a variety of sensors. There are far fewer apps that can be built on top of a genetic sequence, at least at present. Although the genomics space is in some ways less flexible than the applied engineering that drove innovation in Silicon Valley, it is also uncharted territory. There are still many variants to be discovered, structural features in the genome to be mapped, and parts of a genuinely complete human genome to be sequenced [8]. As these uncertainties are resolved, new applications will undoubtedly appear. After all, applied science depends on discovery in basic science. Perhaps the most exciting aspect is the possibility of discovering whole new applications that were unanticipated.