Earlier this week, the personal gene-testing company 23andMe announced that
it’s seeking the blessing of the Food and Drug Administration (FDA) for
its DNA tests that allow people to peer into their genetic makeup.
If the FDA grants approval, it would be a major step forward for the
growing industry springing up around genetic testing. Every day, it
seems, scientists are reporting new gene-based discoveries that allow
them to better pinpoint the causes of disease. As technology becomes
increasingly sophisticated, single-gene tests are being joined by the
sort of genotyping technology used by 23andMe, which scans about 1
million points on the genome that are known to vary among humans. An
even more complex technique, genomic sequencing, looks at about 3
billion points that cover a person’s entire genetic code. 23andMe — the
name is a reference to the 23 pairs of chromosomes that comprise a
person’s genome — intends to eventually offer sequencing, but the cost
starts at around $4,000, which is considerably more expensive than the
$299 the company charges for its testing.
Not only is sequencing more costly, but it also uncovers a trove of
data that researchers have yet to fully understand. Even among the more
targeted areas of the genome that 23andMe examines, there is much
information that remains murky if not elusive. “Of the 1 million points
we look at, there’s only a fraction of those that science can tell us
anything about,” says Ashley Gould, 23andMe’s vice president for
corporate development and its chief legal officer.
Since 23andMe began offering testing in late 2007, more than 150,000
people have become clients. The vast majority have been adults, although
parents can give consent for their children to participate. “Our goal
is to get 1 million in our database,” says Gould. “Having more people
will increase our power to conduct research. There is immense power in
coming together to progress research.”
The company was co-founded
by Anne Wojcicki, who is married to Google co-founder Sergey Brin. Her
bio on the company website explains why she’s interested in personal
genetics, expressing her hope that the company “will create a common,
standardized resource that has the potential to accelerate drug
discovery and bring personalized medicine to the public. (Plus, getting
access to her own genetic information and understanding it has always
been one of Anne’s ambitions.)”
The $299 fee includes processing of a saliva sample via a collection
kit the company sends out. The data gleaned from the sample is shared
with users via a secure website. Customers also have access to the
company’s ancestry features, which have helped people track down
relatives. There are 242 health reports available for different
conditions, enabling users to learn more about traits like freckling or
eye color as well as carrier status for cystic fibrosis, for example,
and risk for diseases such as Alzheimer’s. “As new literature is
published, we add new reports,” says Gould.
When data reveals increased risk for certain diseases, 23andMe offers
up videos that share more detailed information about that specific
condition. The company also has a relationship with a nationwide genetic
counseling service that users can call for an appointment.
But with the ability to glean information outpacing our
comprehension, even genetic counselors are unable to shed much light on
many genetic findings. What we know about our DNA is constantly
evolving. The industry, and 23andMe, says Gould, is “on a steep learning
curve.”
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