Business

The Genetic Early Adopters

(Page 2 of 2)

  • Monday, September 8, 2008
  • By Emily Singer

Nonetheless, early adopters could give scientists insight into how to use the mammoth resource that is our genomic information. "They are trying to answer some of the more thorny questions about how this deluge of information will be used," says Evans. "I believe it will give us some kind of idea of how to deal with this information when the price is more like $3,000."

To provide a customer with personalized genome data, Knome extracts DNA from a blood sample and sends it to the Beijing Genomics Institute for sequencing. A team of informatics experts and medical consultants then analyzes the information, tailoring the process according to the interests of the client. "Each one is crafted to the individual," says George Church, founder of the company and a geneticist at Harvard Medical School. (Church started the company to deal with the frequent requests that he fielded from wealthy people wanting to sequence their genomes.)

The first things the analysts look for are small variations that are found frequently in the broader population and have been linked to increased risk for myriad diseases. They then look for other types of genetic changes--including DNA deletions or duplications--linked to specific diseases. Lastly, they scan the genome for novel variations, changes that have not yet been spotted in the limited amount of human DNA that has been sequenced to date. The effects of such changes are uncertain, but the scientists try to predict them by considering the structure of the resulting proteins.

The results are revealed at a mini symposium dedicated to the recipient's genome, where scientists explain the results, the process behind them, and their limitations. Knome's first client, for example, found out that he was at increased risk for a particular disease that runs in his family. In this case, the finding didn't affect his medical care--he was already being monitored for that condition by his physician. But Conde says that the company makes it clear that the information should not be viewed as a diagnostic or medical service. "If they choose to take medical action, they should only do so with the advice of a physician," he says.

Clients can decide whether or not they want their data deposited in a public database accessible to genetic researchers. In what the research world might consider an ironic twist, Knome's private service has generated a massive genomic resource: the company has likely accumulated the largest repository of whole-genome information in the world. Public projects to accumulate genome-wide databases, including the internationally funded 1,000 Genomes Project and Church's Personal Genome Project, have focused early efforts on sequencing only the part of the genome that codes for proteins.

Print

Related Articles

The Business of Personal Genomes

Jorge Conde speaks on the complexities of personal genomics.

The Human Genome: Yours for $48,000

A new sequencing service aims to take whole-genome sequencing mainstream.

Off-the-Shelf Genetic Testing On Display

The emerging market of direct-to-consumer genetic testing gets down to business.

Close Comments

To comment, please sign in or register

Forgot my password

bpg131313

6 Comments

  • 1249 Days Ago
  • 09/14/2008

Hmmm

I have some friends that work in biotech and they know a lot more about this sort of thing than I do.  I asked them about these USB drives, and their possible uses.  The first thing they said is that they'd be worried about insurance companies obtaining this information. 

The primary thing I took away from my conversation with my friend is that even if someone is genetically predisposed to something doesn't mean that it will manifest itself in this, or even future generations. 

I have to be honest, I'm not sure I'd want all of the information.  Sometimes ignorance truly is bliss.

Reply

TestPilot

13 Comments

  • 1247 Days Ago
  • 09/16/2008

Re: Hmmm

C-mon. You really think insurance companies will be investing hundreds of thousands into every person? Will they invest even $10,000 into your health? Don't be naive. They spend pennies, primarily investing into statistical models analyzing questionnaires filled by clients. Not even paying for dirty cheap(few hundreds $$$) initial visit to a doctor.

Relatively cheap sequencing on the other hand could make huge difference in pinpointing source of genetic disease. Contrary to popular believe, most of them not a breakage of a single gene, but more like failure of genetic pathway, with possibility that failure of different genes can cause same disease. In this scenario, client himself are interested in paying for better diagnosis. For example, parents paying for sequining of genome of child with rare genetic disorder. Or big pharma, that look for new commercially valuable targets could easily pay  for sequencing of, lets say cancer patients, to get insight into disease development... Pharmas are already investing big money into basic research (that is what R in R&D stands for).

And I bet, among clients, called above "The Genetic Early Adopters" there is quite a big portion of people with genetic disorders that want insights into their condition. I know parents who was creating funds with purpose of stimulating research of condition their baby got. Investing millions. Will they pay $350 000? Some of them will.

But insurance companies investing real money???  Give me a break.        

Reply

BioBud

1 Comment

  • 1135 Days Ago
  • 01/06/2009

Re: Hmmm

I just read a really touching story about Knome and a woman with genes for Breast Cancer and how this information can change our lives called "The Burden of Knowing" at: http://www.bostonmagazine.com/articles/the_burden_of_knowing/page1


 

Reply

Advertisement

MAGAZINE

Can We Build Tomorrow's Breakthroughs?

Manufacturing in the United States is in trouble. That's bad news not just for the country's economy but for the future of innovation.

Videos

Consumer-Driven Disruptions

More

Technology Review Lists

TR50

Our list of the 50 most innovative companies, including the following:

Facebook

Geron

Novomer

Cotendo

More

Advertisement

Facebook

Advertisement