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10:34 pm
Mon September 17, 2012

As Genetic Sequencing Spreads, Excitement, Worries Grow

Originally published on Tue September 18, 2012 12:43 pm

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."

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.

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.

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.

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.

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 populationwide 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?

Copyright 2012 National Public Radio. To see more, visit http://www.npr.org/.

Transcript

STEVE INSKEEP, HOST:

Deciphering genetic codes has become quick enough and cheap enough to leave the laboratory and enter the consumer market. People curious what their genome says about their health can buy a genetic reading, and the price is getting cheaper. In the first part of our series, the Thousand Dollar Genome, NPR's Rob Stein reports on how this became possible.

ROB STEIN, BYLINE: Ever since Watson and Crick cracked the genetic code, scientists have been fascinated by what they could learn from reading our genes.

(SOUNDBITE OF TV SPECIAL)

UNIDENTIFIED MAN #1: For the young scientists of the future, there are many exciting questions ahead.

STEIN: Here's how a TV special captured that fascination in 1960.

(SOUNDBITE OF TV SPECIAL)

UNIDENTIFIED MAN #1: Can we learn how to read the codes and DNA?

STEIN: If scientists could read the secrets in DNA, they knew they'd solve all kinds of mysteries: How do mistakes in our genes make us sick? What about our DNA makes us different from one another? But the power of DNA has also long-raised lots of fears.

(SOUNDBITE OF MOVIE, "GATTACA")

UNIDENTIFIED MAN #2: In the not-to-distant future...

STEIN: In the 1997, those fears were dramatized in the sci-fi film "Gattaca."

(SOUNDBITE OF MOVIE, "GATTACA")

UNIDENTIFIED MAN #2: A minute drop of blood determines where you can work, who you should marry, what you're capable of achieving.

STEIN: That was science fiction. But just three years later, President Bill Clinton walked to a podium in the East Room of the White House.

(SOUNDBITE OF SPEECH)

PRESIDENT BILL CLINTON: Good morning.

STEIN: He announced this once-futuristic dream of reading someone's entire genetic code - their genome - had become a reality.

(SOUNDBITE OF SPEECH)

CLINTON: We are here to celebrate the completion of the first survey of the entire human genome.

STEIN: Hundreds of scientists nearly had painstakingly pieced this map together: the first real look at the entire human genetic blueprint. It cost billions and took years just to make this rough draft.

Fast forward 12 years to now. The cost of deciphering a person's genetic instructions has dropped faster than the price tag on flat-screen TVs. And it's way quicker. Today, instead of years, I can take just weeks. Instead of an army of scientists, all you need is a new high-speed sequencing machine and a few lab techs. Instead of billions, it can cost just thousands.

Hi.

ROBERT BLAKESLEY: Hi. How are you?

STEIN: The newfangled, fast, cheap sequencing happens in labs like this one.

Are you going to show me around a little bit?

BLAKESLEY: That's right. Let's go see.

STEIN: Robert Blakesley is giving me a tour. He's a genome scientist at the National Institutes of Health outside Washington.

BLAKESLEY: So, here, in this part of the laboratory, the DNA comes to us and is purified from, say, an individual patient that our investigator wants to have their DNA sequenced.

STEIN: I realize I'd never actually seen DNA, so I asked to take a look at some.

BLAKESLEY: Richelle, do you have any samples out?

STEIN: Richelle Legaspi, a young technician in a lab coat, walks over to a big freezer. Legaspi pulls open the door, and slides out a frosty metal tray. It's filled with glass vials, and in each vial, there's a little dollop of clear fluid. Each dollop contains the DNA for a whole person. It influences everything that makes them who they are: the color of their eyes, how fast they can run, what diseases they will get, how long they'll live.

So this comes in the mail, or something? How do you get this?

RICHELLE LEGASPI: Sometimes it comes FedEx.

STEIN: To get all that information out of that dollop today, Blakesley uses a big, sleek-looking gizmo about the size of an office copier. To show me how it works, Blakesley opens a little door and carefully slips in a glass slide.

BLAKESLEY: You've got to position it just right.

STEIN: And then you close this, the hatch?

BLAKESLEY: Yeah.

STEIN: Ten days later, the sequencer churns out a complete genome for a person - all three billion letters.

BLAKESLEY: It's incredible to me today to see how far we've advanced. To think about being able to do a whole genome of a human - not with 4,000 people and hundreds of machines and years of work, but in 10 days' time we can do that with one person.

STEIN: And it's getting faster and cheaper almost by the minute. One company is showing off one 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.

BLAKESLEY: You could suck up a little sample and squirt it in there, kind of almost sci-fi, kind of, visions.

STEIN: Already, it's gotten to the point where it can cost just $4,000 to sequence someone's genome. So some doctors are starting to map cancer patients. They're trying to find the mutation that's causing 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 mapped, just out of curiosity. George Church is starting to recruit thousands of people around the world to get sequenced. He's a prominent Harvard geneticist and a big advocate of widespread sequencing.

GEORGE CHURCH: It is not theoretical or futuristic. It is today, and it is everyone.

STEIN: Church wants as many people as possible to get their DNA decoded. He even wants to post their genomes on the Internet, along with as much detailed personal information as possible.

CHURCH: We are hoping to get a preview of personalized medicine and share that preview worldwide.

STEIN: That, he says, will speed up the day when doctors can tailor care for their patients in the most personal way possible: literally to their DNA. So Church is thrilled that many are predicting the thousand-dollar sequence is coming soon. That would mean a genome sequence would cost only about as much as an MRI, and the price could keep dropping. Nathan Pearson heads research at Knome, a company that interprets genomes.

NATHAN PEARSON: You could 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 that we better understand whether or not a particular part of our body is turning cancerous.

STEIN: But the idea of widespread sequencing is setting off alarm bells, big time. How accurate are the results? How good are doctors at interpreting findings that are often complicated and fuzzy and then explaining the subtleties to patients? Will lots of people end up getting totally freaked out for no reason? Will the information be kept private? Scientists recently even sequenced a fetus in the womb, raising the possibility of everyone getting sequenced before or at birth. It starts to bring to mind that brave new world depicted in the film "Gattaca."

(SOUNDBITE OF MOVIE, "GATTACA")

UNIDENTIFIED MAN #2: But in place where any cell from any part of your body can betray you, how do you hide?

MARK ROTHSTEIN: I think there are lots of population-wide and individual dangers.

STEIN: Mark Rothstein's a bioethicist at the University of Louisville. He says there are landmines everywhere.

ROTHSTEIN: We're basically not ready for a society in which very exquisite, detailed genomic information about every individual, potentially, is out there.

STEIN: 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? Rob Stein, NPR News.

(SOUNDBITE OF MUSIC)

INSKEEP: And tomorrow, we'll meet two scientists who used themselves as guinea pigs to test how genome sequencing might work in the real world. Transcript provided by NPR, Copyright National Public Radio.