See Your Genes In A
Whole New Light
Personalized genomics
just got a lot more
accessible. Until
recently, the cheapest
genome scan was
available for just under
a thousand dollars.
Thanks to improvements
in microarray
technology,
23andMe has
been able to cut that
cost by more than half -
to $399 - well within
the reach of
cash-strapped grad
students, frugal
genealogy buffs and
other not-so-early
adopters.
“By taking advantage of
continuing innovation we
are able to introduce a
new chip that will give
people more relevant
data at a lower price,”
said Anne Wojcicki,
co-founder of 23andMe.
”We are excited that we
are opening doors for
more people to learn
about their health and
ancestry and for more
people to be able to
participate in advancing
research. It is
important to democratize
personal genetics and
make it more
accessible."
On The Spittoon blog,
Wojcicki mentioned that
her company has also
implemented a major
technology upgrade.
Among other things,
their new chip can check
people for a condition
that makes taking some
drugs extremely
dangerous. If you are
G6PD deficient, and
unwittingly take the
malaria drug primaquine,
you'll have a horrible
reaction that may
include hemolytic anemia
and death.
By checking your genetic
makeup before taking a
new medication, you
might be able to avoid
that sort of nasty
situation. In other
words, the new test
could give you a
lifesaving warning.
Predicting how someone
will respond to a drug
before they ever take
it, just by looking at
their genes, is called
pharmacogenetics. It is
a rather new field, and
not ready for prime-time
yet, but I have a
feeling that services
like the one offered by
23andMe will greatly
accelerate its
development.
At some point 23andMe
will start asking its
clients how well they
respond to particular
drugs. By relating that
information to their
customer's genetic data,
the small company's
researchers may be able
to identify new
pharmacogenetic markers
-- genes that indicate
how someone will react
to a medication.
In order to do those
studies, the
personalized genetics
company requires a
tremendously large
population to study. In
other words, it needs
tons of customers, and
that could be the
underlying reason for
this incredible price
cut.
But the other co-founder
of 23andMe, Linda Avey,
offers a different
explanation. She says
that the biotech
industry has its own
Moore's Law, and it
moves even more swiftly
than the one that causes
the cost of computer
chips to drop as their
capabilities swiftly
increase. From the
outset, she has
suggested that the cost
of the whole genome scan
would drop as
microarrays become
cheaper and more
sophisticated.
Despite the massive
amount of information
gathered by those chips,
some people are
convinced that they do
not paint a detailed
enough picture of our
genetic makeup.
"The term 'whole genome
scan' seems misleading
to me," said a
bioinformatics student
in our comments thread.
"It took C. Venter's
whole, single-purpose,
dedicated company many
months and many millions
(or even billions ?) to
sequence a single human
genome. And even that
was subject to quite
some criticism:
Measured, short sequence
fragments were "puzzled"
together in computers by
heuristic algorithms,
resulting in a
'probably' correct whole
sequence."
Genetics experts could
argue that tests like
the one offered by
23andMe are fully
adequate. They make over
650,000 measurements,
and that should be
enough to see the big
picture -- or even
reconstruct the whole
genome with some very
educated guesses. It's a
bit li k coml ting this
sen ence. Even though
some of the information
is missing, you can
easily fill in the
blanks. |
