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As Genetic Sequencing Spreads, Excitement, Worries Grow

 
 
Reply Tue 18 Sep, 2012 09:15 am
As Genetic Sequencing Spreads, Excitement, Worries Grow
by Rob Stein - NPR Morning Edition
September 18, 2012

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.

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.

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.

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.

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?

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http://www.npr.org/blogs/health/2012/09/18/160958948/of-genetic-sequencing-grows-so-do-privacy-fears
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Foofie
 
  1  
Reply Tue 18 Sep, 2012 02:37 pm
Without the help of genetic sequencing people still tend to marry people of similar intelligence, whether or not both have equal formal educations.

"Water seeks its own level" seems to be how we function.

Since some cultures still "arrange marriages," it is feasible that over time there will be cultures with people divided into functional categories, and others with a more general mix, since the marriages were arranged by families?

farmerman
 
  1  
Reply Tue 18 Sep, 2012 03:06 pm
@BumbleBeeBoogie,
Ive recently begun worrying about all these GM lants, like soybeans with roundup sequences built into the nuclear material so that the"roundup ready" soybeans are able to be direct seeded over a filed wherein Roundup had just been applied. Its been determined that the Roundup ready sequence can wreak havoc with the male gene line and cause several key area mutations/

Also, several plants have sequences of Bt material in their nuclear material. People who eat Bt GM plants are showing reduced sensitivities to antibacterials and certain bacteriostats are totally useless in hospitals perhaps due to the presence of Bt
0 Replies
 
BumbleBeeBoogie
 
  1  
Reply Wed 19 Sep, 2012 09:13 am
@BumbleBeeBoogie,
PART 2

Scientists See Upside And Downside Of Sequencing Their Own Genes
by Rob Stein - NPR Morning Edition
September 19, 2012

Dr. James Watson shared a Nobel Prize for discovering the structure of DNA and was one of the first people to have his entire genome sequenced.

When scientists were looking for the first person to test a new, superfast way of deciphering someone's entire genetic blueprint, they turned to James Watson – the guy who shared a Nobel Prize for discovering the structure of DNA.

"They had to sequence someone, so they got me," he says.

The results helped solve a mystery: Watson had never understood why he had so much trouble controlling his blood pressure with beta blockers. "They put me to sleep," he says.

The sequencing revealed that he had genes that made him more sensitive than most people to the drugs. "Now I can take them once a week," he says, "so my blood pressure is better controlled now because of my genome."

This is one of the big benefits doctors expect to get from sequencing: a whole new way to figure out which drugs work for their patients; which don't; which are safe; and which are dangerous.

"The doctors of the future, when you start to prescribe a drug for which you have a genomic variation that would give you a side effect, a flag will pop up and say, 'Maybe you ought to, you know, consider another drug,' " says Robert Green, a geneticist at Harvard Medical School.

Overall, though, Watson didn't end up learning all that much from his DNA. "Really, nothing came up," he says.

Skeptics say that's probably the case for most people at this point. Sequencing gives you all 3 billion letters in your genome, but scientists still know so little about how to interpret the data that most people will get little, if any, useful information out of it.

That's one reason some scientists are sequencing themselves — to learn how to use this flood of information.

When Michael Snyder, who chairs Stanford University's genetics department, decided to become his own sequencing guinea pig, the results were dramatic — and shocking: Snyder learned he was at risk for Type 2 diabetes.

It didn't seem to make sense: Snyder had no family history of diabetes; he wasn't overweight. There was no reason he should get the disease. Still, just to be on the safe side, Snyder asked a colleague who specializes in diabetes to monitor his blood sugar levels. At first, she was skeptical.

"The person doing the test said, 'There's no way you're at risk for Type 2 diabetes.' And I said, 'Well, I don't think so, either. But my genome says there's something interesting about my glucose metabolism, so I think we should do this test,' " Snyder said.

So everyone was stunned when his blood sugar started rising — and then kept rising. Within months, it spiked. They had literally watched him become a diabetic in real time.

"So in fact, my genome, then, did predict I was at risk for a disease, which, by following the various markers for that disease, I did discover I did get," Snyder said.

Snyder jumped on it. He completely transformed his diet and kicked up his exercise. After about six months, his blood sugar gradually fell back to normal.

"That's the power of genomics, is to help you catch things as early as possible. So, some people might say that actually, my genome saved my life," he said.

Stories like Snyder's are feeding the buzz about sequencing and raising the prospect that it could one day become as routine as running through your family history with your doctor, getting your blood pressure checked or testing your cholesterol.

"I think it's going to be part of the every day medicine sooner than most of us can actually imagine," Green says.

For example, genome sequencing could spot who's going to get breast cancer, escape prostate cancer or need to watch their heart. "I think it's one of the most exciting frontiers in science and society," Green says.

But even people pushing those frontiers acknowledge there are limits to what people want to know about themselves.

When Watson was asked to volunteer for sequencing, he had one condition: "I didn't want know its prediction for Alzheimer's," says Watson, who had watched his grandmother die from the incurable brain disease. "There's nothing you can do to prevent it, so why would you want to know?"

Watson told the geneticists they could tell him and even publicize everything else that showed up in his genes, except that.

That type of reaction isn't surprising, says James Evans, a geneticist at the University of North Carolina, Chapel Hill. "Your genome is a complex and not necessarily a real warm and fuzzy place," he says.

Some people will want to know everything. But a lot of people won't. And what do we do if we stumble across something we weren't looking for?

Plus, Evans says, there are plenty of chances for bad or misleading results that could end up doing more harm than good. "Medical tests have the power to help," Evans notes. But they also "have the power to confuse."

In Watson's case, the first interpretation of his genome indicated he should already be dead, killed by a terminal illness.

"It was a nasty condition. I purposefully didn't think about it," he says, "because I figured I would wonder why I wasn't sick. Well, it turns out I shouldn't have been." Doctors quickly realized they had misread his genome. Luckily, Watson hadn't gotten too worked up about the mistake.

But there are also potential drawbacks to getting it right.

Snyder got a glimpse of that himself. After sequencing revealed his high risk for diabetes, his wife tried to increase his life insurance. But because of that high risk, the price shot through the roof.

"So the bottom line is my life insurance ... essentially became prohibitively expensive," Snyder says.

Federal law bans health insurance companies and employers from penalizing people based on genetic information, but the law doesn't apply to life insurance or long-term care insurance — leaving people like Snyder vulnerable to discrimination.

Despite that, Snyder is convinced sequencing has more upsides than downsides. And despite his false alarm, Watson agrees.

"I think many people would benefit from having their DNA told, and that would more than compensate for the occasional mistakes," he says.

Others aren't so sure. They wonder: Is it far too soon for most people to venture into the dark corners of their DNA?

This is the second story in the "$1,000 Genome" series. Our online survey will close after the final story in the series airs on Oct. 5.
0 Replies
 
cdgenomics
 
  0  
Reply Tue 4 Aug, 2015 03:01 am
@Foofie,
Indeed. In ancient people got married between relatives because they thought they choose the best one to bond. However, thousand years later we found that this will lead to disease and congenital disability. Genetic sequencing help us know the truth we don't know for thousands years.
0 Replies
 
HesDeltanCaptain
 
  1  
Reply Wed 5 Aug, 2015 10:41 am
@BumbleBeeBoogie,
Am less worried about genetic engineering than I am genetic weapons.

IMagine being able to deploy a WMD which only targets specific genes or genetic signatures. Say active Taysach's (Jews,) or Sickle-Cell (blacks,) etc. Could conceivably create a genetic plague which wipes out everyone with whatever genetic sig you specify.

Like oh I dunno how HIV showed up in the homosexual population initially. Almost like it originally targetted just homosexuals.
0 Replies
 
JeroJuujarvi
 
  0  
Reply Thu 10 Aug, 2017 11:18 pm
It seems we no need to worry again. We can give a hope to live longer with CRISPR.
0 Replies
 
BillW
 
  2  
Reply Sat 9 Sep, 2017 10:19 am
@BumbleBeeBoogie,
After completing yDNA testing for genealogical purposes, I know Dr Watson and I share a many ggrandfather at around 2,000 years ago.

We are both R-S9342 Haplogroup.

BBB, you are missed Crying or Very sad but your threads live on!
BillW
 
  1  
Reply Sat 9 Sep, 2017 07:11 pm
@BillW,
I want to add that I have had no medical readings of my genomic tests, only genealogical.
0 Replies
 
 

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