Genome sequencing by Shutterstock.com
Whole genome sequencing, (also known as full genome sequencing, complete genome sequencing, or entire genome sequencing), is a laboratory process that maps a person’s complete genetic code. Because the data that is produced can be staggeringly large—there are approximately six billion base pairs in each human genome—genomic data crunching requires a large amount of computing power and storage capacity and can cost tens of thousands of dollars (down from more than a billion dollars a decade ago).
That’s why it’s been used mostly for research. But rapid developments in sequencing technology in recent years have brought down the cost dramatically, and that technology is now being introduced to consumers. The new focus is what is called exome sequencing, which is the subset of our DNA that codes for proteins.
In a riveting article last month in Time, Bonnie Rochman tells the story of Adam Foye, an 11 year old boy whose symptoms match up with centronuclear myopathy (CNM), a rare muscle disease, but genetic testing shows no signs of abnormalities in any gene linked to CNM. The hope is that through exome sequencing, the genetic mutations causing his condition can be identified opening the door to a possible treatment.
The research on Adam is being coordinated through Boston Children’s Hospital, but soon consumers will have tools at their own disposal. Gene By Gene, better known as the parent company of the popular genetic genealogy provider Family Tree DNA, has launched a new division, DNA DTC, to offer what it claims is “highly reliable and competitively priced genomic testing solutions.” Although it also offers whole genome sequencing, it’s key product is “utilizing next generation sequencing including the entire exome (at 80x coverage)” for an introductory price of $695 at 80x coverage. It will also sequence whole genomes for $5,495.
Why is this a breakthrough? Dan Vorhaus, an expert in genetics and the law and author of Genomics Law Report, notes that this is a significant extension of the “direct-to-consumer” genetic testing market. According to Vorhaus: “23andMe, the acknowledged market leader in DTC genetic testing, employs the same DTC model, but it’s exome pilot product ($999) continues to remain closed to new customers and the company does not (yet) offer a whole genome sequencing service. Thus, DNA DTC appears to be the only company currently offering a truly DTC whole exome or whole genome product.”
DNA DTC is unique in its offering because it is only selling the raw data rather than an interpretation of the data, specifically noting, “data analysis not included.” Genome analysis is complicated though there is disagreement about how expensive it will be as the process becomes increasingly automated.
DNA DTC certainly has its eye on the Food and Drug Administration. As Vorhaus notes, “while the FDA has indicated at intervals in the past few years that it intends to more closely scrutinize the DTC genetic testing industry, the FDA has never suggested – nor do I think it likely – that the agency intends to turn its regulatory gaze upon providers of raw genetic or genomic data.”
While 23andMe is holding back its product, seeking premarket approval from the FDA to provide interpretation of sequenced data, DNA DTC is blazing ahead, going direct to the consumer with a raw product—with the expectation, it’s assumed, that third parties will emerge to offer analysis at a reasonable price. How big is the market? It’s too early to say.
As Vorhaus notes, it’s a sign of healthy innovation in a still very young business—five years old this month—and an indication of how vital the industry can be if regulators give it room to breath.
Jon Entine, executive director of the Genetic Literacy Project, is senior fellow at the Center for Health & Risk Communication and at STATS at George Mason University.