How Genome Sequencing Works

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As Genetic Sequencing Spreads, Excitement, Worries Grow
by ROB STEIN
Predict: What do you expect to find in this article?
September 18, 2012
Slides containing DNA
sit in a bay waiting to
be analyzed by a
genome sequencing
machine. Ever since
James Watson and
Francis Crick cracked
the genetic code,
scientists have been
fascinated by the
possibilities of what
we might learn from
reading our genes. But the power of DNA has also long raised fears — such as
those dramatized in the 1997 sci-fi film Gattaca, which depicted a world
where "a minute drop of blood determines where you can work, who you
should marry, what you're capable of achieving."
One sentence summary of paragraph:
That was science fiction. Just three years later, President Bill Clinton
announced that the once-futuristic dream of reading someone's entire
genetic code — their genome — had become a reality. It took hundreds of
scientists nearly a decade to painstakingly piece together the first real look at
the entire human genetic blueprint. It cost $3 billion just to make that rough
draft. Twelve years later, the cost of deciphering a person's genetic
instructions has dropped faster than the price of flat-screen TVs. And the
sequencing can be done much quicker.
One sentence summary of paragraph:
The Cost of Sequencing A Genome
Over the past decade, the cost of sequencing a human-sized genome has
dropped dramatically. Since 2008, those cost reductions have outpaced
Moore's Law, a famous forecast predicting the doubling of computing power
every two years. Technology that keeps pace with Moore's Law is thought to
be in good shape. Instead of years, it can take just weeks. Instead of an army
of scientists, all it takes is a new high-speed sequencing machine and a few
lab techs. Instead of billions, it can cost as little as $4,000. And many are
predicting the $1,000 genome is coming soon. "It's incredible to me today to
see how far we've advanced," said Robert Blakesley, who directs the National
Institutes of Health's Intramural Sequencing Center. One company is
showing off a sequencing machine that looks like a fat thumb drive, plugs
into a laptop and supposedly spits out a sequence directly from a little blood
within hours.
One sentence summary of paragraph:
.
Some doctors are starting to sequence cancer patients to find the mutations
behind their tumor. Oncologists can then sometimes find better drugs to
treat them. Other specialists are using sequencing to diagnose mysterious
genetic conditions. And some healthy people have even started getting
sequenced just out of curiosity. "It is not theoretical or futuristic. It is today.
And it is everyone," said George Church, a Harvard geneticist who started the
Personal Genome Project. The project is trying to recruit thousands of people
around the world to get sequenced and post their genomes on the Internet,
along with as much detailed personal information as possible. "We are
hoping to get a preview of personalized medicine — and share that preview
worldwide," Church said.
One sentence summary of paragraph:
How Genome Sequencing Works
It used to take hundreds of scientists years and billions of dollars to analyze
one genome. Now high-speed sequencing machines can read a genome in
weeks.All genome sequencing machines are designed to make sense out of
DNA. DNA is made of two complementary, intertwined strands that fit
together like two sides of a zipper. Each strand is written in a simple
language composed of four letters that stand for different nucleic acids: A, T,
C and G. The letters always pair the same way: A goes with T; C goes with G.
To decode the letters in a piece of DNA, a sequencing machine figures out
what letters stick to the DNA.
With the price approaching the cost of getting
an MRI, many predict that sequencing will
soon become part of routine medical
care. "You can imagine a day when
our skin cells, for example, are
screened periodically, and their
genomes are looked at automatically as
part of our life for signs of skin cancers, so we can better understand whether
or not a particular part of our body is turning cancerous," said Nathan
Pearson, a geneticist at Knome Inc., a Cambridge, Mass., company that
interprets genomic information.
One sentence summary of paragraph:
But the idea of widespread sequencing is setting off alarm bells. How
accurate are the results? How good are doctors at interpreting the results,
which are often complicated and fuzzy? How well can they explain the
subtleties to patients? The fear is that a lot of people could end up getting
totally freaked out for no reason. And there are concerns about privacy.
Scientists recently even sequenced a fetus in the womb, raising the
possibility of everyone getting sequenced before or at birth — a prospect with
a whole new set of questions and concerns. "I think there are lots of
population-wide and individual dangers," said Mark Rothstein, a bioethicist
at the University of Louisville. "We're basically not ready for a society in
which very exquisite, detailed genomic information about every individual,
potentially, is out there." Despite the concerns, it's clear that more and more
people are going to be getting their genomes sequenced. The question is: Is
society really ready for this flood of genetic information and everything that
comes along with getting to know our genomes so well?
One sentence summary of paragraph:
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