$1,000 Personal Genome Coming: Are We Ready?
Study Shows Why You Might, and Might Not, Want to Know Your Genome
April 29, 2010 -- Do you really want to know all of the information encoded
in your genes? A thought-provoking new study shows why you might -- and why you
It's not science fiction. It now costs less than $10,000 to learn your own
personal genome. Soon it will cost no more than $1,000. What might you learn?
Ask Stephen Quake, PhD, a Stanford University bioengineer.
Recently, Quake and colleagues showed that a whole human genome -- his own
-- could be unraveled by a single technician using a single machine.
When a 19-year-old relative died suddenly in his sleep, Quake began to
wonder whether the information he collected could tell him whether he risked
the same fate. He took his genome to cardiologist Euan Ashley, MD, who runs
Stanford's hypertrophic cardiomyopathy center.
"This made me start thinking about what doctors are supposed to do when a
patient walks into your office, shows you his whole genome, and asks, 'What is
in my crystal ball?'" Ashley tells WebMD. "It's a challenge. Lots of people
have looked at human genomes, but nobody had ever looked at a single patient
Ashley and Quake assembled a large group of Stanford's top researchers. The
group pored over all available information on genetic risk and then evaluated
millions of the variations in Quake's genetic code.
In the end, it turns out that Quake carries three gene variants linked to
sudden cardiac death. Genetic analysis shows he's at increased risk for heart
attack, clogged arteries, type 2 diabetes, and some cancers.
Does this mean Quake is particularly unlucky? No. Because of the frequency
of risk genes in the population, every single person who looks into their
genome will find that they carry risk genes for more than one serious or deadly
"It is all bad news," Quake tells WebMD. "After all, there is no genetic
basis for happiness or athleticism. It's all about things that make you
uncomfortable and ill. You have to have a strong stomach."
While it isn't what you'd call really good news, Quake did learn a number of
helpful things. He's genetically more likely to respond to low doses of
cholesterol-lowering drugs with a lower risk of side effects (in fact, he's
begun taking the drugs even though he's only 40).
And should he ever need the drugs, Quake learned that he's less likely to
respond to the blood-thinning drug Plavix than to alternative drugs, and he
would need a lower starting dose of warfarin.
Ethical Issues Plague Whole-Genome Test
While there's always bad news from whole-genome sequencing, the fact that a
person is at higher risk of a particular disease does not mean they're destined
to suffer from it.
"The genome is not destiny. Many things have a chance to influence the
outcomes," Quake notes. "There is a genetic component to risk, but there is an
environmental component, too. For the vast majority of things about your
health, your lifestyle choices and the environment you live in make equal