After selecting a topic for my ethnography project, and reaching out to potential clients, I eventually narrowed the potential opportunities down to my final selection, Sequencing.com. Of course, this process was a bit of a give and take as not all potential clients work out. That said, I couldn’t have been happier when I landed Sequencing.com for my UNT anthropology thesis client.
What is Sequencing.com?
Sequencing.com is a software platform and application (app) marketplace that allows users to upload, store, and analyze genetic data, including partial and full genomes. Sequencing.com was created with the goal of making genetic information accessible to the world by making genetic code incredibly easy to work with and understand (Sequencing.com 2018). To accomplish this, the platform allows users to upload genetic data. The data can come from any direct-to-consumer genetics (DTCG) testing service such as Ancestry.com, 23andMe, and FamilyTreeDNA, as well as from clinical labs. Users are then able to analyze their genetic information using apps that were either created by Sequencing.com or other third-party app developers who have published their apps in the Sequencing.com dna app store.
Sequencing.com’s DNA App Store
The apps that Sequencing.com created produce results that are directly accessible from within the platform, while the apps that other developers created often require the users to create an account at the producer’s website to retrieve their results. The apps are either free or have a cost. The apps which have a cost associated with them may have a one-time fee or a per-use fee. Costs range from $0.99 to several hundred dollars.
Currently, there are 46 apps, making Sequencing.com the largest app marketplace for genetic testing. The apps are classified into eight categories: bioinformatics, clinical, enterprise and lab, research, mobile, app development, education, and wellness. The bioinformatics, clinical, enterprise and lab, and research apps are quite niche-oriented as they are primarily targeted to individuals with a background in genetics. This is best illustrated by the names of the apps, which include examples such as Imputation Analysis, Convert rsids to Coordinates, Variant Effect Predictor, and BowTie2 Aligner. The apps in the mobile and app development category are targeted at app developers as proofs-of-concept (POC) for building apps on top of genetic data, but could be utilized by any user of Sequencing.com. The one app in the education category is a genealogy app, which again could be used by all users. Lastly, there is the wellness category which can easily target all users of the platform be it a bioinformatician, healthcare professional, or a consumer, but it is the most targeted to the consumer category. This is best illustrated by some of the app names which include Wellness and Longevity, Healthy Heart, Skin Health Optimizer, Age with Strength, Male Pattern Baldness, and Arthritis Prevention.
Sequencing.com’s Genetics API
Some of the apps run directly within the platform such as those created by Sequencing.com, while others run elsewhere. For the apps that run elsewhere, they could be accessible as web apps or mobile apps for use on mobile devices, such as phones, tablets, or watches. When the apps are running outside of the Sequencing.com platform, they make use of a genetics API based on Sequencing.com’s Real-Time PersonalizationTM (RTP) technology which is an application programming interface (API) that allows app developers to pull genetic data from Sequencing.com, assuming an authorized purchase was made by a Sequencing.com customer. If RTP is used, app developers can simply analyze the genetic data to produce results, or they are able to combine other real-time data with the genomic data to produce customized recommendations to the consumer. This latter point is illustrated by one of the mobile app POCs Sequencing.com developed.
The app is called Weather My Way + RTP, and combines real-time weather data with genetic data related to skin and cancer. The app works by locating the consumer geographically based on the geo-coordinates of their mobile device, checking the weather, comparing the weather against predispositions for skin problems like melanoma, and making suggestions for use of skin products such as sunblock (Sequencing.com 2018). This POC is of particular interest because it is essentially a smart app that is personalized to the user in an effort to create an easily actionable recommendation; and, as such, in many ways represents the future of genomics and the essence of why Sequencing.com was started.
The Anthropological Opportunity
In 2017 the number of people who have taken a DTCG test nearly doubled compared to 2016, pushing the total number somewhere close to an estimated 12 million (MIT Technology Review 2018). However, not all of the growth is for health purposes. In fact, the majority of the growth is happening for genealogical reasons led by Ancestry’s DTCG test. AncestryDNA was released in 2012, and in the first three years of business within the genetic genealogy space, Ancestry sequenced over one million partial genomes. Since 2015, AncestryDNA has grown exponentially. As of April 2017, Ancestry had reached 4 million users, with a fourth of the genomes being sequenced between January and April of that year (Ancestry 2017). On November 6, 2017, they posted on their website that they had reached 6 million genomes in the DNA database (Ancestry 2017). Then, as if the previous growth wasn’t impressive enough, they sold roughly 1.5 million kits in quarter four of 2017, about triple the same period of the prior year, putting them somewhere above 7.5 million genomes in their database, which would represent about 62% of the total DTCG US market. (Forbes 2017).
But all of this growth, impressive as it is, does not help achieve the hopes and dreams of the medical community because only a fraction of the US population has taken a genetic health test. In fact, in a 2016 UBS Securities LLC survey of 1,000 people representative of the US population, they found that only 5 percent said they had been tested on their initiative, and 50 percent said they were likely not to get tested (UBS Securities LLC 2016). Similarly, in a 2016 Rock Health survey, 36 percent of consumer respondents stated they had not taken a genetic health test because there is “no need” and another 27 percent because they are “unaware or need more information” (Rock Health 2016, 21). However, the ever-increasing popularity of genealogy DTCG tests points seems to imply that there is a market in the making for genetic health testing. The question is, therefore, why, how, and when will consumers adopt DTCG health tests; and how can we ensure this service is provided in a socially responsible way?