The mapping of the human body’s complete set of DNA — also known as whole genome sequencing — has been held up as a potential game-changer in healthcare.
The idea, backers say, is that by understanding more about your genetics, doctors can tailor treatments for ailments like cancer to each patient.
But there’s been two big drawbacks to the technology. First, it was historically very expensive, with sequencing costs alone staying in the million-dollar range up through 2008.
Second, because the FDA restricts direct sales of health reports to consumers that have the potential to diagnose or change a course of treatment — information considered actionable — most genome sequencing products are limited to offering only details about ancestry and traits.
But on Tuesday, a company called Sure Genomics said it has a solution to both of those factors. It introduced its first commercial product: a $2,500 sequencing of your entire genome.
The company’s test can tell things like how you might react to a certain drug based on genetic mutations in genes — such as if you have the BRCA genes that could predispose you to breast cancer — as well as the more common reading on ancestry, wellness and traits.
Sure Genomics has its own physician involved in the process, which is why the FDA lets it sell medical diagnostics directly to consumers. As for the price tag? That reflects the rapid drop in cost of genome sequencing thanks to advances in technology.
Here’s how the sequencing works:
Like any other consumer genetics test, it all starts by ordering a test.
But unlike a 23andMe or AncestryDNA test, which don’t provide any information that can be considered “actionable” by the FDA, Sure Genomics loops in a physician from its network to gather information about your family history and order the sequencing that intends to answer your specific questions about your health. The physician then prescribes the sequencing, meaning they technically have oversight of the information you’re about to get back.
Next, it’s time to send your spit off to get sequenced in a CLIA-certified lab that works with Sure Genomics. The company analyses the raw data, comparing it to existing genomic databases to come back with the variety of reports. Finally, you get your results and have the chance to run through them with the assistance of a genetics counselor supplied by Sure Genomics.
Rick White, a co-founder of Sure Genomics, told Business Insider that they have been communicating with the FDA to make sure they are on the same page as the regulatory agency in terms of what information they can and can’t provide directly to the person being sequenced.
Here’s what the reports look like once a genome’s been sequenced and interpreted:
Storing an entire genome
When it’s all said and done, Sure Genomics will have sifted through all 3 billion of a person’s base pairs (the building blocks of the genome), along with information about what diseases that person might be predisposed to, or if there are certain medications that might react better with your genes than others.
That amounts to 66 gigabytes worth of information. To store it, Sure Genomics came up with a “Sure Vault” system that keeps it safe and HIPAA compliant, meaning your genetic information won’t fall into the wrong hands. White said the founders’ backgrounds are in tech and software, so they’re really focused on making your genetic information interactive and useful.
“It’s completely secure. Only you have access to it,” he said. That means there’s no plans to build out a database using existing customer genetic information. “This is your most private information. We want to stand strong as somebody who is completely focused on consumer privacy first.”
White said the goal is to get the cost of the initial sequence down even farther, which is certainly possible based on how quickly the cost of sequencing a genome is falling. The hope, White said, is to make the information available in the genome available to everyone.
Sure Genomics expects to start shipping collection kits by June 2016.
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