Sequencing.com Hopes to Shepherd Growing Market of DIY Genomics Tools

Originally published September 27, 2016 by GenomeWeb. Updated 2026 to reflect current platform terminology and state. The original article is available in PDF format.

For example, genetic analysis company 23andMe had to stop communicating information about customers' health gleaned from its microarray based analysis of their DNA after the US Food and Drug Administration cited it for offering a genetic test without proper clearance. Since then, the company has launched individual analyses through the FDA, but still cannot perform the comprehensive analysis it launched with.

However, customers can take their raw genetic data from 23andMe or other companies and link it to their biology or learn about its implications for their current and future health, using services offered by other companies.

Anticipating a future in which use of these tools continues to grow, Sequencing aims to be a one stop shop that will collate and organize available analysis engines and apps in a single space, and facilitate access to them by consumers who have a range of different types of genomic data at hand.

The company's platform had been live online since the beginning of 2016, in what Brandon Colby, Sequencing's founder and CEO, described as a beta period in which it tweaked and optimized its system.

In essence, Colby told GenomeWeb, Sequencing wants to be both a safe space for genomic data and a marketplace for tools to understand that data and put it to use.

"Our perspective on the data being generated by all these genetic testing companies is that it is owned by the individual. It is a person's asset, that they have, and that we store to make it useful for them," Colby said.

"One of the problems I have seen with the industry is that it's very fragmented in terms of the tools and different ways that exist to analyze and interpret genetic data," he added. "You might have data from 23andMe or be an early adopter of whole genome sequencing, but you don't know what to do with it."

Two parts: storage and analysis

According to Colby, Sequencing has a two part structure. First, the company offers free, unlimited, and HIPAA compliant storage of a user's genetic or genomic data.

"We have researchers with terabytes of FASTQ and BAM files. It's always free. We don't see storage as something that should be monetized," he said.

The second side is providing a Partner Marketplace that brings together what the company hopes will be all the best available tools and apps for analyzing and interrogating genomic data.

The site launched with internally developed apps and, with its official launch in September 2016, began adding externally developed apps, with ongoing discussions with numerous developers. The Partner Marketplace has grown substantially since then and today includes hundreds of apps and reports across health, nutrition, fitness, pharmacogenomics, and rare disease categories.

Vetting apps and setting a floor for quality

In light of the company's focus on personal ownership and safety of users' data, Sequencing has a process for evaluating and vetting potential third party apps.

"We want customers to feel confident that there is a certain floor an app can't pass below," Colby said.

This process includes the company's own bioinformatics team looking at the structure and claims being made by a potential new app, to make sure "nothing audacious is being claimed, and everything is based on published literature."

"This means no 'you have this gene, and you're going to live to 1,000 years, but you have to take our vitamins,'" Colby said.

The range of available apps

The company's apps range from those geared toward users with professional genomic experience to simpler consumer oriented apps that address potentially actionable health information.

On the bioinformatics side, Sequencing offers tools that allow users to build pipelines for variant calling, alignment, and interpretation without needing to write their own code. On the consumer side, the Partner Marketplace includes apps such as Wellness and Longevity, which analyzes user data for links to genetic risk across preventable diseases including cancers, heart disease, diabetes, multiple sclerosis, blood clot and bleeding disorders, as well as pharmacogenomic determinants of drug response.

"Knowing your risk means having the chance to lower it," the app description reads.

Healthcare Pro is geared more toward generating a report for use by a medical professional. In addition to the genetic report, its results include detailed information about the specific genes and genetic variants analyzed, along with the medical references that link the variant to a specific disease, medication reaction, or trait.

Data compatibility as a competitive advantage

According to Colby, Sequencing's free storage was already attracting users and data rapidly at launch. He also stressed that developers are attracted to the company's data agnosticism, which gives them an easy way to reach more users, including users with a variety of different file formats.

"A lot of third party apps were designed for 23andMe data and they are seeing good adoption for this, but they want to expand out to [users with data from] another company like Ancestry or they are looking at exomes," he said.

"It can be a quagmire dealing with different formats of data, but when they join Sequencing they receive full compatibility."

That compatibility has remained a core property of the platform. Sequencing accepts genetic data from whole genome sequencing, exome sequencing, microarrays, and PCR across all common file formats, including FASTQ, FASTA, BAM, SAM, CRAM, and VCF, regardless of which lab or testing service produced the data.

Where the platform stands today

The vision Colby described in 2016, a single platform where anyone with genetic data can store it securely and access a growing library of analytical tools, has continued to develop. Sequencing now offers clinical grade whole genome sequencing at 30x coverage directly, meaning users can sequence their genome and have it immediately accessible on the platform. The Partner Marketplace has grown to include a broad range of apps from third party developers alongside Sequencing's own clinical products, covering 100% of your DNA across over 30,000 genes.

Data ownership and privacy remain central commitments. Sequencing's Privacy Forever policy means genetic data is never sold to third parties and remains under the control of the individual who uploaded it.

To explore the full current catalog of apps and reports, visit the Partner Marketplace. To upload existing genetic data or order whole genome sequencing, visit sequencing.com/data/upload.