Consumer Genomics: Healthcare’s Next Catalyst
Genomic sequencing is among the most powerful of technologies today, wielding unprecedented potential to advance healthcare and research. Yet what does this mean for us when this technology moves from the laboratory bench side to the patient bedside, or when it hits the consumer app store? In the past decade, we have seen explosive growth in consumer technology and internet companies such as Facebook, Amazon, Google, Uber, AirBnb, and Snapchat. These few companies alone have created over a trillion dollars in market value and have galvanized an entire economy of technology ventures with astronomical valuations. Attracting much less attention yet developing at an even quicker pace, is the field of genomics. Although the signs are subtle, data inundated genomic ventures are destined to be similarly transformed by the network effects that created these gargantuan internet companies.
A quick synopsis for those unfamiliar, genomics, in simplest terms, is the analysis of genetic information. The approximately three billion nucleotide base pairs (the A’s, T’s, Cs’ and G’s) that make up our DNA contain the instructions that govern almost every conceivable facet of our physiology. By sequencing the DNA in our cells, we can determine height, hair and eye color, dietary restrictions, ancestry, and most importantly, predisposition to diseases. From a medical standpoint, genomic sequencing allows for comprehensive diagnoses of cancers, rare genetic conditions, prenatal screening, and personalized drugs tailored to your genetic makeup.
The pace of progress in genomics is no exaggeration. In fact, since 2007, the advancements in DNA sequencing has already outpaced Moore’s Law of the computer industry. The exponential growth in genomics is attributed to the many technical and biochemical innovations in DNA sequencing technologies led by the San Diego sequencing equipment company Illumina (which controls 90% of the sequencer market). In the past decade, sequencing a human genome has dropped from costing us three billion to one thousand dollars. Moreover, Illumina has announced last month that they strive to deliver the $100 sequencer in a few years. Clearly, we are approaching an inflection point in genomics. This rapid decrease in cost for sequencing is paving the way for the democratization of biotechnology, creating not only a host of new scientific applications, but also a new array of genomics companies targeting the general consumer directly — a new industry known as Consumer Genomics.
Perhaps the most well-known of these consumer genomics startups is 23andMe, which made its splash into the market with the introduction of its $99 DNA testing kit. After collecting your saliva, 23andMe sequences a portion of your DNA and provides you an ancestry report and risk estimations for your predispositions to a panel of diseases including cystic fibrosis, breast cancer, Alzheimer’s, and others. In 2013, however, the FDA demanded the company stop selling this kit as it was providing diagnostic risk assessments for over hundreds of diseases and conditions, each of which normally would require rigorous medical clearance to ensure safety and efficacy. (23andMe have since focused on gaining approval on a few diagnostic tests at a time and working with pharma companies to mine the sequencing data they collected for new drug targets)
Despite the heightened scrutiny of consumer genomics technologies, recent advancements in sequencing technology have ushered in a fertile market for sprouting more genomic startups than ever before. Most of these startups, however, veer towards creating products for either laboratory research or wellness applications (fields unregulated by the FDA). A notable example is uBiome, a company that provides you a kit to collect samples from and perform genetic sequencing on your microbiome. Your microbiome is the collection of microorganisms that live in and on your body (in areas such as your skin, gut, genitals, etc.). Recent research has found potential links between the human microbiome and its correlation to weight gain, bloating, irritable bowel syndrome, diabetes, and other chronic diseases. uBiome brands itself as having a “citizen science” business model, in which the more customers that participate, the more data they have for research — thus the more valuable the service is for everyone. Despite providing a service that offers no diagnostic insight and satisfies little more than your curiosity, the company had launched with a successful Indiegogo campaign and has raised more than $27 million to date from top VC firms. Other examples of consumer genomics ventures include Vinome, which sequences your DNA and recommends wine catered to a “unique taste profile” based on your genetic makeup, and National Geographic’s own sequencing test that claims to help you discover migration paths of your ancestors and detect your proportion of Neanderthal ancestry. There are even subscription-based genetic services like Habit and Arivale, which sequence your genome and offer you personalized coaches that guide you on dietary, exercise, and lifestyle habits to optimize your health.
After this holistic overview of consumer genomics ventures, one may wonder how this movement brings us closer to developing new diagnostics, unlocking novel drugs or, at the very least, how it will drive the industry of genomics forward. On the surface, it appears many of the current “mainstream” consumer applications of genomics are designed for satisfying curiosity, offering innocuous fun facts, and giving potentially helpful wellness advice. On the other hand, though 23andMe faced regulatory hurdles that prevented them from releasing a pan-genetic diagnostic tool, they still have collected vast amounts of valuable genomic data that are used for the development of novel drugs through partnerships with large biopharmas like Genentech and Pfizer. Furthermore, seemingly low-stakes companies such as Arivale, which monitors your dietary and physical health in relation to your genetics, or uBiome, which strives to gain insight on a new biological fauna of your body, offer hospitals and drug companies unprecedented amount of novel biomedical information at a scale that is simply impossible to collect in a research laboratory. At the bare minimum, “fun” companies such as Vinome help raise awareness of the potential of sequencing technology and increase public willingness to participate in these tests — which will lead to production of more genetic data.
Like the network effects of internet and social media (wherein larger user base and larger amounts of data improve the inherent value of the network and overall experience), in genomic sequencing, the more participants and data that we have, the more valuable the sequencing output is, as it allows physicians and scientists to better uncover novel genetic trends, train machine learning algorithms more precisely, and diagnose diseases more accurately. This extraordinary value of genomic data has been increasingly apparent, highlighted from undertakings such as Obama’s Precision Medicine Initiative, 23andMe selling their data, to even large pharmaceutical companies like Astra Zeneca and Merck teaming up with technology giants and unicorns to sequence and mine genomic data for new drug targets. Consumer genomics spurs awareness, mainstream consumer participation and accumulation of massive amounts of genomic data, serving as a momentous catalyst for the network effects of genomics. As genetic testing has largely been constrained in the laboratory setting for the past decade, consumer genomics might just be what we need to tip the scale and bring us one step closer to mass market adoption of this life-saving technology.