Disease tracking direct-to-consumer genome sequencing breaks $1000 barrier ($695)

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.”

Vorhaus does raise concerns that DNA DTC, based on its privacy policy, is technically entitled to share its customers’ genomic information without specific and informed consent, but it’s likely that represents an unintentional ambiguity in the wording, and the company says it has no plans to market the 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.

Also Visit
AEIdeas Blog The American Magazine
About the Author



What's new on AEI

AEI Election Watch 2014: What will happen and why it matters
image A nation divided by marriage
image Teaching reform
image Socialist party pushing $20 minimum wage defends $13-an-hour job listing
AEI on Facebook
Events Calendar
  • 27
  • 28
  • 29
  • 30
  • 31
Monday, October 27, 2014 | 10:00 a.m. – 11:30 a.m.
State income taxes and the Supreme Court: Maryland Comptroller v. Wynne

Please join AEI for a panel discussion exploring these and other questions about this crucial case.

Tuesday, October 28, 2014 | 9:30 a.m. – 12:15 p.m.
For richer, for poorer: How family structures economic success in America

Join Lerman, Wilcox, and a group of distinguished scholars and commentators for the release of Lerman and Wilcox’s report, which examines the relationships among and policy implications of marriage, family structure, and economic success in America.

Tuesday, October 28, 2014 | 5:30 p.m. – 7:00 p.m.
The 7 deadly virtues: 18 conservative writers on why the virtuous life is funny as hell

Please join AEI for a book forum moderated by Last and featuring five of these leading conservative voices. By the time the forum is over, attendees may be on their way to discovering an entirely different — and better — moral universe.

Thursday, October 30, 2014 | 2:00 p.m. – 3:00 p.m.
A nuclear deal with Iran? Weighing the possibilities

Join us, as experts discuss their predictions for whether the United States will strike a nuclear deal with Iran ahead of the November 24 deadline, and the repercussions of the possible outcomes.

Thursday, October 30, 2014 | 5:00 p.m. – 6:15 p.m.
The forgotten depression — 1921: The crash that cured itself

Please join Author James Grant and AEI senior economists for a discussion about Grant's book, "The Forgotten Depression: 1921: The Crash That Cured Itself" (Simon & Schuster, 2014).

No events scheduled this day.
No events scheduled this day.
No events scheduled this day.
No events scheduled today.
No events scheduled this day.