Iceland Weighs Exporting the Power Bubbling From Below


Ilvy Njiokiktjien for The New York Times


The Krafla plant is Iceland’s largest geothermal power station, a showcase of renewable energy.







KRAFLA, Iceland — Soon after work began here on a power plant to harness some of the vast reserves of energy stored at the earth’s crust, the ground moved and, along a six-mile-long fissure, began belching red-hot lava. The eruptions continued for nine years, prompting the construction of a stone and soil barrier to make sure that molten rock did not incinerate Iceland’s first geothermal power station.




While the menacing lava flow has long since stopped and Krafla is today a showcase of Iceland’s peerless mastery of renewable energy sources, another problem that has dogged its energy calculations for decades still remains: what to do with all the electricity that the country — which literally bubbles with steam, hot mud and the occasional cloud of volcanic ash — is capable of producing.


In a nation with only 320,000 people, the state-owned power company, Landsvirkjun, which operates the Krafla facility, sells just 17 percent of its electricity to households and local industry. The rest goes mostly to aluminum smelters owned by the American giant Alcoa and other foreign companies that have been lured to this remote North Atlantic nation by its abundant supply of cheap energy.


Now a huge and potentially far more lucrative market beckons — if only Iceland can find a way to transmit electricity across the more than 1,000 miles of frigid sea that separate it from the 500 million consumers of the European Union. “Prices are so low in Iceland that it is normal that we should want to sell to Europe and get a better price,” said Stein Agust Steinsson, the manager of the Krafla plant. “It is not good to put all our eggs in one basket.”


What Landsvirkjun charges aluminum smelters exactly is a secret, but in 2011 it received on average less than $30 per megawatt/hour — less than half the going rate in the European Union and barely a quarter of what, according to the Renewable Energies Federation, a Brussels-based research unit, is the average tariff, once tax breaks and subsidies are factored in, for “renewable” electricity in the European Union. Iceland would not easily get this top “renewable” rate, which is not a market price, but it still stands to earn far more from its electricity than it does now.


Eager to reach these better paying customers, the power company has conducted extensive research into the possibility of a massive extension cord — or a “submarine interconnector,” in the jargon of the trade — to plug Iceland into Europe’s electricity grid. Such a cable would probably go first to the northern tip of Scotland, which, about 700 miles away, is relatively close, and then all the way to continental Europe, nearly 1,200 miles away. That is more than three times longer than a link between Norway and the Netherlands, which is currently the world’s longest.


Laying an underwater cable from the North Atlantic would probably cost more than $2 billion, and the idea is not popular with those who worry about Iceland — a country that takes pride in living by its own means in harsh isolation — becoming an ice-covered version of Middle East nations addicted to easy money from energy exports.


Backers of the cable “are looking for easy money, but who is going to pay in the end?” said Lara Hanna Einarsdottir, an Icelandic blogger who has written extensively on the potential risks involved in geothermal energy. “We will all pay.”


Iceland, Ms. Einarsdottir said, should use its energy sources to “supply ourselves and coming generations” and not gamble with Iceland’s unique heritage by “building more and more plants so that we can provide electricity to towns in Scotland.”


The idea of somehow exporting electricity to Europe has been around for decades and has been “technically doable for some time,” said Hordur Arnarson, the power company’s chief executive, “but it was not seen as economically feasible until recently.” The change is largely because of a push by the European Union to reduce the use of oil and coal and promote green energy, a move that has put a premium on electricity generated by wind, water and geothermal sources. The union’s 27 member states agreed in 2009 to a mandatory target of deriving at least 20 percent of its energy from “renewable sources” by 2020.


A connection to Europe would not only allow Iceland to tap the export market but also to import electricity from Europe in the event of a crisis, a backup that would allow it to stop keeping large emergency reserves, as it does now.


“This is a very promising project,” Mr. Arnarson said. “We have a lot of electricity for the very few people who live here.” Compared with the rest of the world, he said, Iceland produces “more energy per capita by far, and it is very natural to consider connecting ourselves to other markets.”


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F.C.C. Moves to Ease Wireless Congestion


WASHINGTON — The Federal Communications Commission took a step on Wednesday to relieve growing congestion on Wi-Fi networks in hotels, airports and homes, where Americans increasingly use multiple data-hungry tablets, smartphones and other devices for wireless communications.


The commission proposed making a large portion of high-frequency airwaves, or spectrum, available for unlicensed use by devices like the Wi-Fi routers that many Americans use in their homes. The new rules, after they receive final approval, would allow for transmission speeds of up to 1 gigabit per second — more than 100 times as fast as the Internet connection in the average American home.


The agency’s five commissioners also expressed hopes that the new unlicensed airwaves would unleash further innovations, just as unlicensed spectrum in the past has made possible such devices as cordless phones, garage door openers and television remote controls. Most of the public airwaves, like those used for television and radio broadcasting, or for cellphone signals and satellite transmissions, are licensed to specific companies, which then control that band of the electromagnetic spectrum.


Unlicensed airwaves, however, can be used by anyone, and they are increasingly used by wireless phone carriers like Verizon and AT&T, which divert nearly half of the data traffic off their systems and onto Wi-Fi networks to eliminate congestion caused by video downloads and similar bandwidth-hungry uses.


After a public comment period, the commissioners will try to devise final rules and regulations, a process that could take a year or more. But all of the commissioners expressed hope on Wednesday that the new airwaves could be put to use without unnecessary delay.


“These airwaves can be a colossal catalyst for new innovation,” said Jessica Rosenworcel, an F.C.C. commissioner. “It features enough continuous spectrum to unlock the full potential of a new Wi-Fi standard,” known as 802.11ac. “Undoubtedly,” she added, “cool new ways of connecting await.”


Possible roadblocks do exist, however, mainly because some of the airwaves proposed for the new applications are already in use by private organizations and government agencies, including the United States military.


Congress has mandated that the F.C.C. undertake the expansion of unlicensed spectrum, and the Obama administration has urged the freeing up or sharing of airwaves currently allocated to the federal government. Under the proposal, up to 195 megahertz of spectrum will be made available, the F.C.C. said, increasing by as much as 35 percent the total amount of airwaves available for unlicensed use in the 5-gigahertz spectrum band. But various government agencies, including a division of the Commerce Department, have warned against allowing consumer uses to interfere with current government applications.


Lawrence E. Strickling, assistant commerce secretary for communications and information, said in a letter delivered late Tuesday to the commission that the Pentagon, the Department of Homeland Security and NASA each used parts of the same airwaves for communication between aircraft and ground stations. Those communications enable activities like drug interdiction, combat search and rescue, and border surveillance, Mr. Strickling said.


Private groups also voiced concern. The Intelligent Transportation Society of America, a trade group representing automakers, design companies and transportation lobbying organizations, warned that its current tests of “connected driving” technology used part of the spectrum that the F.C.C. was considering opening to unlicensed use. Connected driving systems, which are being tested by the Transportation Department, allow cars to communicate with one another by radio signal, warning drivers of potential collisions and other hazardous road conditions.


If unlicensed devices are also using the same airwaves, the group said, the potential for interference could adversely affect the driving systems.


Julius Genachowski, the F.C.C. chairman, said he was confident that the commission’s engineers would be able to work with the affected government and private entities to solve interference problems.


“It’s very important for the country that we all lean into this in a problem-solving way,” Mr. Genachowski said. “This is not a new challenge for the commission to address.”


While the effort “will require significant consultation with stakeholders” to solve the interference problem, he added, “consultation can’t be an excuse for inaction or delay.”


The commission also voted unanimously to approve a regulation allowing consumers and companies to use approved and licensed signal boosters to amplify signals between wireless devices, like cellphones and the wireless networks on which they operate.


Those boosters, millions of which are currently used in ungoverned applications, help consumers and businesses improve coverage where cell signals are weak. Boosters are also used by public safety departments to extend wireless access in tunnels, subways and garages.


The order, which takes effect March 1, 2014, creates two classes of signal boosters, for use by consumers and businesses, each with distinct requirements to minimize interference with wireless networks.


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Well: Caffeine Linked to Lower Birth Weight Babies

New research suggests that drinking caffeinated drinks during pregnancy raises the risk of having a low birth weight baby.

Caffeine has long been linked to adverse effects in pregnant women, prompting many expectant mothers to give up coffee and tea. But for those who cannot do without their morning coffee, health officials over the years have offered conflicting guidelines on safe amounts during pregnancy.

The World Health Organization recommends a limit of 300 milligrams of caffeine a day, equivalent to about three eight-ounce cups of regular brewed coffee. The American College of Obstetricians and Gynecologists stated in 2010 that pregnant women could consume up to 200 milligrams a day without increasing their risk of miscarriage or preterm birth.

In the latest study, published in the journal BMC Medicine, researchers collected data on almost 60,000 pregnancies over a 10-year period. After excluding women with potentially problematic medical conditions, they found no link between caffeine consumption – from food or drinks – and the risk of preterm birth. But there was an association with low birth weight.

For a child expected to weigh about eight pounds at birth, the child lost between three-quarters of an ounce to an ounce in birth weight for each 100 milligrams of average daily caffeine intake from all sources by the mother. Even after the researchers excluded from their analysis smokers, a group that is at higher risk for complications and also includes many coffee drinkers, the link remained.

One study author, Dr. Verena Sengpiel of the Sahlgrenska University Hospital in Sweden, said the findings were not definitive because the study was observational, and correlation does not equal causation. But they do suggest that women might put their caffeine consumption “on pause” while pregnant, she said, or at least stay below two cups of coffee per day.


This post has been revised to reflect the following correction:

Correction: February 20, 2013

An earlier version of this article described incorrectly the relationship between the amount of caffeine a pregnant woman drank and birth weight. For a child expected to weigh about eight pounds at birth, the child lost between three-quarters of an ounce to an ounce in birth weight for each 100 milligrams of average daily caffeine intake by the mother, not for each day that she consumed 100 milligrams of caffeine.

Read More..

Well: Caffeine Linked to Lower Birth Weight Babies

New research suggests that drinking caffeinated drinks during pregnancy raises the risk of having a low birth weight baby.

Caffeine has long been linked to adverse effects in pregnant women, prompting many expectant mothers to give up coffee and tea. But for those who cannot do without their morning coffee, health officials over the years have offered conflicting guidelines on safe amounts during pregnancy.

The World Health Organization recommends a limit of 300 milligrams of caffeine a day, equivalent to about three eight-ounce cups of regular brewed coffee. The American College of Obstetricians and Gynecologists stated in 2010 that pregnant women could consume up to 200 milligrams a day without increasing their risk of miscarriage or preterm birth.

In the latest study, published in the journal BMC Medicine, researchers collected data on almost 60,000 pregnancies over a 10-year period. After excluding women with potentially problematic medical conditions, they found no link between caffeine consumption – from food or drinks – and the risk of preterm birth. But there was an association with low birth weight.

For a child expected to weigh about eight pounds at birth, the child lost between three-quarters of an ounce to an ounce in birth weight for each 100 milligrams of average daily caffeine intake from all sources by the mother. Even after the researchers excluded from their analysis smokers, a group that is at higher risk for complications and also includes many coffee drinkers, the link remained.

One study author, Dr. Verena Sengpiel of the Sahlgrenska University Hospital in Sweden, said the findings were not definitive because the study was observational, and correlation does not equal causation. But they do suggest that women might put their caffeine consumption “on pause” while pregnant, she said, or at least stay below two cups of coffee per day.


This post has been revised to reflect the following correction:

Correction: February 20, 2013

An earlier version of this article described incorrectly the relationship between the amount of caffeine a pregnant woman drank and birth weight. For a child expected to weigh about eight pounds at birth, the child lost between three-quarters of an ounce to an ounce in birth weight for each 100 milligrams of average daily caffeine intake by the mother, not for each day that she consumed 100 milligrams of caffeine.

Read More..

With PlayStation 4, Sony Aims for Return to Glory





For the Sony Corporation, a tech industry also-ran, the moment of reckoning is here.




The first three generations of PlayStation sold more than 300 million units, pioneered a new style of serious video games and produced hefty profits. PlayStation 4, introduced by Sony Wednesday evening, is a bold bid to recapture those glory days of innovation and success.


The first new PlayStation in seven years was promoted by Sony as being like a “supercharged PC.” It has a souped-up eight-core processor to juggle more complex tasks simultaneously, enhanced graphics, the ability to play games even as they are being downloaded, and a new controller designed in tandem with a stereo camera that can sense the depth of the environment in front of it.


All of that should make for more compelling play for the hard-core gamers at the heart of the PlayStation market. The blood effects in Killzone: Shadow Fall, shown to a preview audience of 1,200 at the Hammerstein at Manhattan Center Wednesday night, looked chillingly real.


The console itself was never shown during the two-hour presentation. No release date was given, although before the Christmas holidays is a good possibility. No price was mentioned.


With PlayStation 4, serious games are about to become much more social. A player can broadcast his game play in real time, and his friend can peek into his game and hop in to help. Also, players will now be able to upload recordings of themselves playing and send them to their friends.


These and other new features cannot hide the fact that PlayStation 4 is still a console, a way of playing games on compact discs that was cool when cellphones were not smart.


Much of the excitement in video games has shifted to the Web and mobile devices, which is cheap, easy and fast. Nintendo’s new Wii, introduced in November, has been a disappointment. Microsoft’s Xbox, the third major console, is racing to become a home entertainment center as fast as it can.


“Today marks a moment of truth and a bold step forward for PlayStation,” Andrew House, chief executive of Sony Computer Entertainment, told the crowd. He said the new device “represents a significant shift of thinking of PlayStation as merely a box or console to thinking as a leading authority on play.”


But the new PlayStation will have a difficult time, like the character in Killzone who was shooting at the people in the helicopter while hanging from the helicopter. Sales of consoles from all makers peaked in 2008, when about 55 million units were sold, according to the research firm I.D.C. By last year, that was down to 34 million.


For 2014, Lewis Ward, I.D.C.’s research manager for video games, forecast a recovery to about 44.5 million.


“From peak to peak, we’ll be down about 10 million,” he said. “There was attrition to alternative gaming platforms like tablets, but the trough was exacerbated by the 2008-9 recession. It did not permit as many people to buy who under normal economic conditions would have bought a console.”


That was reflected in Sony’s miserable financial results. The company has lost money for the last three years, hampered not only by slower console sales but also by a range of unexciting electronic products, a strong yen and the 2011 tsunami that struck Japan.


Analysts have made dire remarks about the one-time powerhouse’s viability. But Sony seems to have bottomed out, helped by a yen that has now weakened. Sony executives said this month that they expected a profit in 2013.


Sony’s new chief executive, Kazuo Hirai, has a longtime personal connection to the PlayStation franchise and is making it one of the core elements of a more tightly focused company. Mr. Hirai became known for some of his more confident statements about the PlayStation, particularly a 2006 swipe at Microsoft: “The next generation doesn’t start until we say it does.”


These days, the next generation is playing games on the Web. Console makers typically sell their consoles for a loss and generate profit through sales of games. In 2012, American consumers spent $14.8 billion on game content, including computer and video games, down from $16.34 billion in the previous year, according to the NDP Group, a research firm.


Instead of buying traditional games, which typically cost $50 or more, many consumers are being drawn to the cheaper, sometimes free games available for their smartphones and tablets, analysts say.


PlayStation 4 games can be streamed to the PlayStation Vita, Sony’s portable game device, among other features.


“The architecture is like a PC in many ways, but supercharged to bring out its full potential as a gaming platform,” said Mark Cerny, Sony’s lead system architect.


James L. McQuivey, a Forrester analyst, said that for the PlayStation 4 to succeed, Sony needed to think beyond games. The console will have to provide other types of content and services, like video conferencing, third-party apps and a TV service to create a deeper, long-term relationship with the customer.


By comparison, Apple, the world’s leading consumer electronics maker, does not just sell hardware. It also has a universe of digital content including apps, music, movies and e-books to make people come back for more Apple gear every year. Apple generally takes an enviable 30 percent cut of all media it sells. Microsoft, Google and Amazon are making similar moves to create such a product array.


“Then and only then can Sony hope to learn enough about its users to overcome its own bias toward preferring to design products in response to engineering principles rather than customer needs,” Mr. McQuivey said.


This article has been revised to reflect the following correction:

Correction: February 20, 2013

An earlier version of this article misstated the number of consecutive years in which Sony has lost money. It is three years, not four.



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Afghans Arrest a Pakistani Taliban Leader





KABUL, Afghanistan — The Afghanistan authorities have captured a senior member of the Pakistan Taliban in a stretch of mountains near the frontier between the two countries, Afghan and Pakistani officials said on Tuesday. One Afghan official said the militant, Maulvi Faqir Muhammad, had been arrested after American airstrikes, some carried out via drones, had flushed him out of a more remote haven.




Although Mr. Muhammad, picked up over the weekend, had lost much of his standing in the Pakistan Taliban over the past few years, his arrest was likely to please Pakistani officials and further improve the already warming relations between Kabul and Islamabad. “This is big news,” a senior Pakistani security official said.


Afghan officials, including members of the intelligence agency, the National Directorate of Security, said its agents, aided by Afghan army special forces, had captured Mr. Muhammad on Sunday along with four other militants in the Mohmand Dara District of Nangarhar Province in eastern Afghanistan. The district borders Pakistan.


A member of the Pakistan Taliban, formally known as the Tehrik-i-Taliban, also said he had heard of Mr. Muhammad’s capture, and that the news was spreading quickly among the many militant factions that make up the Islamist movement.


Shukrullah Durani, the governor of Mohmand Dara, said the five men had been carrying an AK-47 assault rifle, hand grenades, a pistol and a radio when caught about 4:30 p.m. They were driving a white Toyota Corolla — one of Afghanistan’s most common cars, and thus a low-profile way to travel — and were passing through the village of Hazarnaw, he said, adding that authorities had been tracking the men for some time. Except for the district governor, Afghan and Pakistani officials spoke on the condition of anonymity, citing the sensitivity of the case.


Pakistani officials have in the past year often complained that Afghan and American authorities were doing little to capture the wanted militant leader. To the dismay of Washington, they repeatedly sought to draw equivalence between his case and longstanding accusations that Islamabad let the Afghan Taliban use Pakistan as a rear base.


Mr. Muhammad, believed to be in his 40s, fled to Afghanistan in 2010 after an offensive by Pakistan’s military on his stronghold in the Bajaur tribal agency. He was at the time a deputy leader of the Pakistan Taliban, an offshoot of the Afghan Taliban movement.


Mr. Muhammad continued to attack Pakistani forces in Bajaur after taking refuge in the isolated valleys of Kunar and Nuristan Provinces in northeastern Afghanistan, prompting Pakistani complaints of American and Afghan inaction.


At the same time, though, he fell out with the leadership of the Pakistan Taliban after trying to open peace talks. But in recent months, as the Pakistan Taliban have made limited overtures toward holding such talks, colleagues have appeared to welcome Mr. Muhammad back.


Afghan officials have long denied that Mr. Muhammad operated from their territory. Intelligence officials in Kabul said that he had been caught on Sunday while crossing into Afghanistan, and they suggested that he had lacked a base of operations on this side of the border.


But another official, an intelligence agent who works in northeastern Afghanistan, said Mr. Muhammad’s trail had been picked up in recent days because he had been trying to flee Kunar Province. Mr. Muhammad felt there were too many airstrikes by the American-led coalition there, the intelligence official said. Many were carried out by drones, and Mr. Muhammad, knowing the effectiveness of drone attacks targeting Islamist militants in Pakistan’s border areas, feared that the Americans had been hunting him.


American officials offered no comment on Mr. Muhammad’s capture, referring questions to the Afghanistan government.


Ismail Khan contributed reporting from Peshawar, Pakistan; Sharifullah Sahak from Kabul; and an employee of The New York Times from Asadabad, Afghanistan.



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Disruptions: Disruptions: 3-D Printing Is on the Fast Track

Will the future be printed in 3-D?

At first glance, looking at past predictions about the future of technology, prognosticators got a whole lot wrong. The Web is a garbage dump of inaccurate guesses about the year 2000, 2010 and beyond. Flying cars, robotic maids and jet packs still are nowhere near a reality.

Yet the prediction that 3-D printers will become a part of our daily lives is happening much sooner than anyone anticipated. These printers can produce objects, even rather intricate ones, by printing thin layer after layer of plastic, metal, ceramics or other materials. And the products they make can be highly customized.

Last week, President Obama cited this nascent technology during his State of the Union address — as if everyone already knew what the technology was.

He expressed hope that it was a way to rejuvenate American manufacturing. “A once-shuttered warehouse is now a state-of-the art lab where new workers are mastering the 3-D printing that has the potential to revolutionize the way we make almost everything,” Mr. Obama said. He has pushed new technologies before, like solar and wind power, as remedies for our nation’s problems, and those attempts have only revived the debate about the limitations of government industrial policy.

But this one shows more promise. The question is, can the United States get a foothold in manufacturing one 3-D printer at a time?

Hod Lipson, an associate professor and the director of the Creative Machines Lab at Cornell, said “3-D printing is worming its way into almost every industry, from entertainment, to food, to bio- and medical-applications.”

It won’t necessarily directly create manufacturing jobs, except perhaps for the printers themselves. Dr. Lipson, the co-author of “Fabricated: The New World of 3D Printing,” said that the technology “is not going to simply replace existing manufacturing anytime soon.” But he said he believed that it would give rise to new businesses. “The bigger opportunity in the U.S. is that it opens and creates new business models that are based on this idea of customization.”

In addition to the lab that the president mentioned, a federally financed manufacturing innovation institute in Youngstown, Ohio, schools are embracing the technology. The University of Virginia has been working to introduce 3-D printers into some programs from kindergarten through 12th grade in Charlottesville to prepare students for a new future in manufacturing.

“We have 3-D printers in classrooms, and in one example, we’re teaching kids how to design and print catapults that they then analyze for efficiency,” said Glen L. Bull, professor and co-director of the Center for Technology and Teacher Education. “We believe that every school in America could have a 3-D printer in the classroom in the next few years.”

The education system may want to speed things up. The time between predictions for 3-D printers and the reality of what they can accomplish is compressing rapidly.

For example, in 2010, researchers at the University of Southern California said that another decade would pass before we could build a home using a 3-D printer. Yet last week, Softkill Design, a London architecture collective, announced that it planned to make the first such home — which it will assemble in a single day — later this year. The home isn’t that pretty, and will look more like a calcified spider web than a cozy house, but it will show it can be done. The price of 3-D printers has also dropped sharply over the last two years, with machines that once cost $20,000, now at $1,000 or less. That’s partly because Chinese companies are driving down prices. Yes, China sees the opportunity in these things, even though the technology may undermine some of its manufacturing advantages.

“When it costs you the same amount of manufacturing effort to make advanced robotic parts as it does to manufacture a paperweight, that really changes things in a profound way,” Dr. Lipson said.

This leaves us with one more question about the future: When will these 3-D printers be able to make us flying cars, robotic maids and jet packs?

E-mail: bilton@nytimes.com

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DNA Analysis, More Accessible Than Ever, Opens New Doors


Matt Roth for The New York Times


Sam Bosley of Frederick, Md., going shopping with his daughter, Lillian, 13, who has a malformed brain and severe developmental delays, seizures and vision problems. More Photos »







Debra Sukin and her husband were determined to take no chances with her second pregnancy. Their first child, Jacob, who had a serious genetic disorder, did not babble when he was a year old and had severe developmental delays. So the second time around, Ms. Sukin had what was then the most advanced prenatal testing.




The test found no sign of Angelman syndrome, the rare genetic disorder that had struck Jacob. But as months passed, Eli was not crawling or walking or babbling at ages when other babies were.


“Whatever the milestones were, my son was not meeting them,” Ms. Sukin said.


Desperate to find out what is wrong with Eli, now 8, the Sukins, of The Woodlands, Tex., have become pioneers in a new kind of testing that is proving particularly helpful in diagnosing mysterious neurological illnesses in children. Scientists sequence all of a patient’s genes, systematically searching for disease-causing mutations.


A few years ago, this sort of test was so difficult and expensive that it was generally only available to participants in research projects like those sponsored by the National Institutes of Health. But the price has plunged in just a few years from tens of thousands of dollars to around $7,000 to $9,000 for a family. Baylor College of Medicine and a handful of companies are now offering it. Insurers usually pay.


Demand has soared — at Baylor, for example, scientists analyzed 5 to 10 DNA sequences a month when the program started in November 2011. Now they are doing more than 130 analyses a month. At the National Institutes of Health, which handles about 300 cases a year as part of its research program, demand is so great that the program is expected to ultimately take on 800 to 900 a year.


The test is beginning to transform life for patients and families who have often spent years searching for answers. They can now start the grueling process with DNA sequencing, says Dr. Wendy K. Chung, professor of pediatrics and medicine at Columbia University.


“Most people originally thought of using it as a court of last resort,” Dr. Chung said. “Now we can think of it as a first-line test.”


Even if there is no treatment, there is almost always some benefit to diagnosis, geneticists say. It can give patients and their families the certainty of knowing what is wrong and even a prognosis. It can also ease the processing of medical claims, qualifying for special education services, and learning whether subsequent children might be at risk.


“Imagine the people who drive across the whole country looking for that one neurologist who can help, or scrubbing the whole house with Lysol because they think it might be an allergy,” said Richard A. Gibbs, the director of Baylor College of Medicine’s gene sequencing program. “Those kinds of stories are the rule, not the exception.”


Experts caution that gene sequencing is no panacea. It finds a genetic aberration in only about 25 to 30 percent of cases. About 3 percent of patients end up with better management of their disorder. About 1 percent get a treatment and a major benefit.


“People come to us with huge expectations,” said Dr. William A. Gahl, who directs the N.I.H. program. “They think, ‘You will take my DNA and find the causes and give me a treatment.' ”


“We give the impression that we can do these things because we only publish our successes,” Dr. Gahl said, adding that when patients come to him, “we try to make expectations realistic.”


DNA sequencing was not available when Debra and Steven Sukin began trying to find out what was wrong with Eli. When he was 3, they tried microarray analysis, a genetic test that is nowhere near as sensitive as sequencing. It detected no problems.


“My husband and I looked at each other and said, ‘The good news is that everything is fine; the bad news is that everything is not fine,' ” Ms. Sukin said.


In November 2011, when Eli was 6, Ms. Sukin consulted Dr. Arthur L. Beaudet, a medical geneticist at Baylor.


“Is there a protein missing?” she recalled asking him. “Is there something biochemical we could be missing?”


By now, DNA sequencing had come of age. Dr. Beaudet said that Eli was a great candidate, and it turned out that the new procedure held an answer.


A single DNA base was altered in a gene called CASK, resulting in a disorder so rare that there are fewer than 10 cases in all the world’s medical literature.


“It really became definitive for my husband and me,” Ms. Sukin said. “We would need to do lifelong planning for dependent care for the rest of his life.”


This article has been revised to reflect the following correction:

Correction: February 19, 2013

An earlier version of this article misstated the name of a medicine taken by two teenagers who have a rare gene mutation. The drug is 5-hydroxytryptophan, not 5-hydroxytryptamine.



Read More..

DNA Analysis, More Accessible Than Ever, Opens New Doors


Matt Roth for The New York Times


Sam Bosley of Frederick, Md., going shopping with his daughter, Lillian, 13, who has a malformed brain and severe developmental delays, seizures and vision problems. More Photos »







Debra Sukin and her husband were determined to take no chances with her second pregnancy. Their first child, Jacob, who had a serious genetic disorder, did not babble when he was a year old and had severe developmental delays. So the second time around, Ms. Sukin had what was then the most advanced prenatal testing.




The test found no sign of Angelman syndrome, the rare genetic disorder that had struck Jacob. But as months passed, Eli was not crawling or walking or babbling at ages when other babies were.


“Whatever the milestones were, my son was not meeting them,” Ms. Sukin said.


Desperate to find out what is wrong with Eli, now 8, the Sukins, of The Woodlands, Tex., have become pioneers in a new kind of testing that is proving particularly helpful in diagnosing mysterious neurological illnesses in children. Scientists sequence all of a patient’s genes, systematically searching for disease-causing mutations.


A few years ago, this sort of test was so difficult and expensive that it was generally only available to participants in research projects like those sponsored by the National Institutes of Health. But the price has plunged in just a few years from tens of thousands of dollars to around $7,000 to $9,000 for a family. Baylor College of Medicine and a handful of companies are now offering it. Insurers usually pay.


Demand has soared — at Baylor, for example, scientists analyzed 5 to 10 DNA sequences a month when the program started in November 2011. Now they are doing more than 130 analyses a month. At the National Institutes of Health, which handles about 300 cases a year as part of its research program, demand is so great that the program is expected to ultimately take on 800 to 900 a year.


The test is beginning to transform life for patients and families who have often spent years searching for answers. They can now start the grueling process with DNA sequencing, says Dr. Wendy K. Chung, professor of pediatrics and medicine at Columbia University.


“Most people originally thought of using it as a court of last resort,” Dr. Chung said. “Now we can think of it as a first-line test.”


Even if there is no treatment, there is almost always some benefit to diagnosis, geneticists say. It can give patients and their families the certainty of knowing what is wrong and even a prognosis. It can also ease the processing of medical claims, qualifying for special education services, and learning whether subsequent children might be at risk.


“Imagine the people who drive across the whole country looking for that one neurologist who can help, or scrubbing the whole house with Lysol because they think it might be an allergy,” said Richard A. Gibbs, the director of Baylor College of Medicine’s gene sequencing program. “Those kinds of stories are the rule, not the exception.”


Experts caution that gene sequencing is no panacea. It finds a genetic aberration in only about 25 to 30 percent of cases. About 3 percent of patients end up with better management of their disorder. About 1 percent get a treatment and a major benefit.


“People come to us with huge expectations,” said Dr. William A. Gahl, who directs the N.I.H. program. “They think, ‘You will take my DNA and find the causes and give me a treatment.' ”


“We give the impression that we can do these things because we only publish our successes,” Dr. Gahl said, adding that when patients come to him, “we try to make expectations realistic.”


DNA sequencing was not available when Debra and Steven Sukin began trying to find out what was wrong with Eli. When he was 3, they tried microarray analysis, a genetic test that is nowhere near as sensitive as sequencing. It detected no problems.


“My husband and I looked at each other and said, ‘The good news is that everything is fine; the bad news is that everything is not fine,' ” Ms. Sukin said.


In November 2011, when Eli was 6, Ms. Sukin consulted Dr. Arthur L. Beaudet, a medical geneticist at Baylor.


“Is there a protein missing?” she recalled asking him. “Is there something biochemical we could be missing?”


By now, DNA sequencing had come of age. Dr. Beaudet said that Eli was a great candidate, and it turned out that the new procedure held an answer.


A single DNA base was altered in a gene called CASK, resulting in a disorder so rare that there are fewer than 10 cases in all the world’s medical literature.


“It really became definitive for my husband and me,” Ms. Sukin said. “We would need to do lifelong planning for dependent care for the rest of his life.”


This article has been revised to reflect the following correction:

Correction: February 19, 2013

An earlier version of this article misstated the name of a medicine taken by two teenagers who have a rare gene mutation. The drug is 5-hydroxytryptophan, not 5-hydroxytryptamine.



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Obama Turns Up Pressure for Deal on Budget Cuts




Seeking to Avoid the Sequester:
The Times’s Michael D. Shear on how President Obama put pressure on Congress to avoid the across-the-board budget cuts.







WASHINGTON — Days away from another fiscal crisis and with Congress on vacation, President Obama began marshaling the powers of the presidency on Tuesday to try to shame Republicans into a compromise that could avoid further self-inflicted job losses and damage to the fragile recovery. But so far, Republicans were declining to engage.




To turn up the pressure on the absent lawmakers, Mr. Obama warned in calamitous terms of the costs to military readiness, domestic investments and vital services if a “meat-cleaver” approach of indiscriminate, across-the-board spending cuts takes effect on March 1. Surrounding him in a White House auditorium were solemn, uniformed emergency responders, invited to illustrate the sort of critical services at risk.


The president plans to keep up the pressure through next week for an alternative deficit-reduction deal that includes both spending cuts and new revenues through closing tax loopholes. He will have daily events underscoring the potential ramifications of the automatic cuts, aides said, and next week will travel outside Washington to take his case to the public, as he did late last year in another fiscal fight on which he prevailed.


In stern tones, Mr. Obama said that the automatic cuts, known in budget terms as a sequester, would “affect our responsibility to respond to threats in unstable parts of the world” and “add thousands of Americans to the unemployment rolls.”


He framed the debate in the way that he hopes will force Republicans into accepting some higher tax revenues, something they so far refuse to do.


“Republicans in Congress face a simple choice,” Mr. Obama said. “Are they willing to compromise to protect vital investments in education and health care and national security and all the jobs that depend on them, or would they rather put hundreds of thousands of jobs and our entire economy at risk just to protect a few special-interest tax loopholes that benefit only the wealthiest Americans and biggest corporations?”


Mr. Obama once again finds himself in a budget showdown with the opposing party, and numerous polls show his position to be more popular than Republican calls for spending cuts only, including cuts in Medicare. Mr. Obama and senior aides hardly disguised their sense of political advantage.


“We are trouncing them,” said one senior administration official about the Republicans.


Still, the president’s leverage might in fact be limited, since by all appearances he seems to want a deal far more than Republicans do. As the leader of the nation, Mr. Obama is eager to see an end to the repeated evidence of Washington dysfunction, or what he referred to again on Tuesday as the cycle of “manufactured crisis.” And with his legacy ultimately at stake, he needs to lift the fiscal uncertainty that since 2011 has held down economic growth.


Despite the risks of an impasse for Republicans, those who control the House have all but forfeited this battle to Mr. Obama and seem poised to let the automatic cuts take effect. Many Republicans, particularly newer members elected with Tea Party support, have pushed party leaders to accept the sequester and lock in the spending cuts rather than compromise. The leaders seem to have decided to wage battle later this spring in the larger fight over the annual federal budget.


Contributing to Republican calculations is the fact that at least in the short term, an impasse over the sequester is not as potentially catastrophic as the threats that loomed in past partisan showdowns, like a full shutdown of government or the nation’s first-ever default on its global debt obligations.


The potential impact is potentially hazardous nonetheless, both economically and politically. As Mr. Obama noted, the prospect of the sequester has already affected military deployments and hiring by military contractors, and threatens layoffs of teachers, air traffic controllers and researchers, among others.


Hours after the president’s remarks, economic forecasters at Macroeconomic Advisers, based in St. Louis, projected that sequestration would reduce the firm’s forecast of growth this year by nearly a quarter, 0.6 percent, and cost roughly 700,000 civilian and military jobs through 2014, with heightened unemployment lingering for several years.


“By far the preferable policy,” the analysis said, “is a credible long-term plan to shrink the deficit more slowly through some combination of revenue increases within broad tax reform” as well as “more carefully considered cuts” in spending programs, including Medicare and Medicaid. That prescription for both long-term spending reductions and revenue increases, as an alternative to immediate deep spending cuts that inhibit job growth, generally tracks Mr. Obama’s approach.


He has proposed $1.5 trillion in spending cuts over 10 years and revenue increases that would build on the roughly $2.5 trillion over the decade that he and Congress have agreed to in the past two years. The total, $4 trillion, is the minimum reduction that many economists say is necessary to stabilize the growth of the nation’s debt at a time when the population is aging and health care costs are rising.


That approach mixing spending cuts and increased revenues got another endorsement on Tuesday when the chairmen of Mr. Obama’s 2010 debt-reduction commission — former Senator Alan K. Simpson, a Republican, and Erskine B. Bowles, a Democrat and former chief of staff to President Bill Clinton — released a revised fiscal plan that would reduce annual deficits by $2.4 trillion in a decade through spending cuts, including in Medicare and Social Security benefits, and an overhaul of the tax system.


But Republicans say they will not consider additional tax increases since Mr. Obama in January won more than $600 billion over 10 years in higher revenues from the wealthiest taxpayers. “The revenue debate is now closed,” Speaker John A. Boehner said in a statement reacting to the president’s remarks.


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