characterize the proteins bound to that
piece of DNA.”
Being able to measure things at this
level has “already had a profound impact
on the definition of health and disease
states such that the very taxonomy of
disease is changing from descriptive in
nature to molecular,” says Geoffrey S.
Ginsburg, M.D., Ph.D., director of the
Center for Genomic Medicine at the
Duke Institute for Genome Sciences and
Policy in Durham, NC, and co-editor of
the weighty two-volume Genomic and
Personalized Medicine.

The change to a molecular playing field to help identify and treat disease means that at some point each of us might want our own personal genome scan.

human genome variation over the past
decade. And it will soon be the case
that an entire human genome can be
sequenced for less than $1,000.”
The cost factor is significant.
While genome-evaluation services like
23andMe provide a partial scan and
plenty of data about an individual’s
genetic makeup—including personal
details like food sensitivities and disease
risks for more common ailments—all
Genome Web estimated “less than
$40,000 to more than $200,000 per
genome,” according to its website.
Complete Genomics of Mountain View,
CA, is still wrestling with its publicly
announced goal of charging $5,000 per
person for groups of 20 or more, hoping
to deliver in 2010. Unlike many compa-
nies in the scramble for a cheaper human
genome, Complete Genomics claims sev-
eral real accomplishments. For example,

Personal Scan

“We have and will have access to a large body of genomic information about ourselves,” says Ginsburg. “Information technology is critical to our ability to use it constructively with our health providers to define a strategy to maintain health and, when we are sick, to be more precise on which medical interventions will be most valuable in our treatment. This is the essence of personalized medicine.”

PHO TOGRAPH BY GUIDO CROLLA

Today, such technology is in develop-
ment but still too expensive for every-
day use. However, this is a field where
innovations all but crowd one another
out of the way as doctors, engineers,
and designers push to lower the cost to
the individual patient. They have been
startlingly successful, too. “The cost
and ability to measure human-genome
variation put Moore’s Law to shame,”
says Ginsburg, “with roughly a 14,000-
fold decrease in the cost of measuring
for several hundred dollars, a complete
gene scan carries a much steeper price
tag. As a result, teams of researchers are
racing each other to develop the tech-
nology to sequence an entire genome at
a price that fits a middle-class budget.