We’ve all heard the phrase “an app store for personal genomics”. But what does that actually mean? And what are the technological hurdles involved in building one? Well since the world’s first platform for storing and sharing personal genomics, complete with a suite of genetically-powered apps available to its users, launched towards the end of 2016, we decided to find out more about this new, personalised frontier.
By Liz Harley, Front Line Genomics
APRIL 4, 2017 – One of the first questions that a recent new staff member on the Front Line Genomics content team asked me, after where do I get coffee and who is in charge of the pens, was whether there was any way for someone who had sequenced some or all of their genetic information to “donate it to science”. This is not a crazy question; after all, we donate blood, and occasionally organs, to science and medicine on a regular basis. Technically speaking, donating our genetic information should be entirely feasible, and dare I say it, straightforward.
There’s no question that over the past few years, something of a revolution has taken place in personal genetics. What began with tests for ancestry has ballooned into an industry covering everything from genetic screening to personal wellness. Many saw the entry of Illumina into the market with spinout company Helix as a key inflection point, and launched a new term and concept into the genomics vernacular: the idea of an ‘app store’ for personal genetics, a place where individual users can channel their data into a range of different services that provide personalised recommendations.
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More and more people are getting portions of their genome sequenced through services like 23andMe, Pathway Genomics, or Veritas, to name but a few, whether out of curiosity, for health reasons, or to explore their genetic ancestry. But once that test has been completed, once the analysis has been run, what else can consumers do with their data? In an ideal world they would be able to call up other tests, or to be able to use their information to make more informed lifestyle choices. Or, as my colleague and I considered, even donate it to research.
The growing deluge of personal genetic information has enormous potential value as a tool for research, and even more so if it can be broken out of the silo of individual company databases and stored in a central repository.
This was the opportunity spotted by Dr Brandon Colby, founder of Sequencing.com, a platform that allows its users to store, analyse, and if they are so inclined, share their information. Launched in September 2016, Brandon describes Sequencing.com as simply “a community for people who have genetic data.”
“Sequencing.com is the first universally compatible platform for genomic data,” he explains. “A place to come once you have genetic data and a place to turn that data into valuable information. It doesn’t matter where the genetic data is generated, such as Helix, 23andMe, Veritas, HLI, Ancestry.com or National Geographic, Sequencing.com enables the data from any source to automatically become fully compatible with apps in our app market.”
At launch Brandon said, “Within the next 8 years, we expect that between 100 million and 2 billion human genomes will be sequenced. Sequencing.com has been preparing for this inevitability by creating solutions that unlock the true value of genetic data.”
What Brandon and the team behind Sequencing.com have done is quite remarkable. Theirs is the first “agnostic” platform for genetic data. Simply put, your data could come from any source – whole genome, whole exome, DNA microarrays – or from any company, and your file can be uploaded to Sequencing.com and ready to use immediately and seamlessly.
What does that ‘use’ look like? Very simply, Brandon’s team have turned a community vision into a reality, by creating the world’s first app store for personal genomics. Individual users already have a selection of health and wellness options available to them, including apps like DNA Diet Coach and DNA Fitness Coach that can provide tailored recommendations based on genetic information.
A network of altruists
Beyond personal data, Sequencing.com has wider, more altruistic ambitions. “When researchers come up with a hypothesis to test, they face the high costs of gathering genomic data,” explains Brandon. “At the same time, consumers are looking for a way to make their genomic data useful. We see them converging to create a database that provides free solutions that help accelerate life-saving research.”
Sequencing.com sets out to make that consumer data available to science and healthcare by offering its users the option to become an ‘Altruist’, making their anonymised personal data readily, and freely, available to researchers.
“We don’t automatically opt people into the altruist program. Instead, individuals can choose which data files they want to make available. When a person chooses to be an Altruist and make their anonymised data available in the Altruist Database, the user received Altruism Points. These points are further incentive to people to donate their data to science. Everyone’s points are added up and once certain levels are reached, Sequencing.com makes donations to charities that provide Genome Sequencing to help save children with a severe, undiagnosed illness.”