Sony Will Lose the Console War With PS4's Lame Video-Streaming Strategy

Congratulations, Sony, you just lost the console war.

Sony held reporters hostage for two hours Wednesday as it unveiled a new PlayStation controller, made a lot of promises about the PlayStation 4 and showed all the demos in the world. What it didn’t show us, aside from an actual PlayStation 4, is any kind of streaming-video strategy aside from the obligatory nod to Netflix. And thus it sealed its fate. There simply is no way Sony can compete with Microsoft without streaming video.

Andrew House, CEO of Sony Computer Entertainment, told the assembled press, “The living room is no longer the center of the console ecosystem, the gamer is.” Sony wants games to go with you everywhere. That’s a smart move, but no matter how you spin it, the PlayStation must be part of the living room if it is to have any hope of taking on the Xbox 360 — and any future consoles coming out of Redmond.

Sony was vague about pretty much everything regarding PlayStation 4. And it said nothing whatsoever about its video content plan — in fact, the only hint that Sony even has a video content plan was a slide featuring Netflix, Hulu and the like. Sony must do better than that. A lot better. Gamers increasingly look to their consoles as the gateway to streaming content. This is especially true for one of the PlayStation’s largest audiences, 20-something cord cutters. Ignoring that audience to show off 90 minutes of demos was a huge mistake. Anyone who watches TV and plays games will be wary of a console that only plays games while taking up valuable HDMI port space.

Microsoft gets this, and has been extremely aggressive in ensuring you keep your Xbox 360 on all the time. Microsoft has teamed up Comcast and Verizon to bring viewers on-demand shows. Plus, it was one of the first devices to get HBO Go. Sure, I can share a video of a game I just played with the yet-to-be-seen PlayStation 4, but can I use it as a DVR cable box? How will I watch Girls and Downtown Abbey on this thing?

Sony’s quick mention of streaming apps like Netflix was followed by a promise to talk more about its strategy in the coming year. But if the photo of video-streaming apps that appeared on stage during the presentation is any indication, PlayStation 4 doesn’t offer anything more than PlayStation 3. That’s a big fail these days. Having a Netflix app on your console is nothing. Everything has a Netflix app. You can watch Netflix on phones, tablets, computers, Blu-ray players and ovens. That’s not a strategy, that’s keeping up with two years ago.

And so we wait for more news from a company that once upon a time built really cool products people wanted. Sure the demos were dazzling with fire, explosions and so much soft lens flare. But open HDMI ports on HDTVs are scarce, and Sony is entering a tough market. Why would anyone buy a device that does one thing (games) marginally better than another device that also lets you watch Game of Thrones the day it airs? They wouldn’t.

The game has changed. It’s not just about games anymore.

Read More..

Living With Cancer: Arrivals and Departures

After being nursed and handed over, the baby’s wails rise to a tremolo, but I am determined to give my exhausted daughter and son-in-law a respite on this wintry evening. Commiserating with the little guy’s discomfort — gas, indigestion, colic, ontological insecurity — I swaddle, burp, bink, then cradle him in my arms. I begin walking around the house, swinging and swaying while cooing in soothing cadences: “Yes, darling boy, another one bites the dust, another one bites the dust.”

I kid you not! How could such grim phrases spring from my lips into the newborn’s ears? Where did they come from?

I blame his mother and her best friend. They sang along as this song was played repeatedly at the skating rink to which I took them every other Saturday in their tweens. Why would an infatuated grandma croon a mordant lullaby, even if the adorable one happily can’t understand a single word? He’s still whimpering, twisting away from me, and understandably so.

Previously that day, I had called a woman in my cancer support group. I believe that she is dying. I do not know her very well. She has attended only two or three of our get-togethers where she described herself as a widow and a Christian.

On the phone, I did not want to violate the sanctity of her end time, but I did want her to know that she need not be alone, that I and other members of our group can “be there” for her. Her dying seems a rehearsal of my own. We have the same disease.

“How are you doing, Kim?” I asked.

“I’m tired. I sleep all the time,” she sighed, “and I can’t keep anything down.”

“Can you drink … water?” I asked.

“A little, but I tried a smoothie and it wouldn’t set right,” she said.

“I hope you are not in pain.”

“Oh no, but I’m sleeping all the time. And I can’t keep anything down.”

“Would you like a visit? Is there something I can do or bring?” I asked.

“Oh, I don’t think so, no thanks.”

“Well,” I paused before saying goodbye, “be well.”

Be well? I didn’t even add something like, “Be as well as you can be.” I was tongue-tied. This was the failure that troubles me tonight.

Why couldn’t I say that we will miss her, that I am sorry she is dying, that she has coped so well for so long, and that I hope she will now find peace? I could inform an infant in my arms of our inexorable mortality, but I could not speak or even intimate the “D” word to someone on her deathbed.

Although I have tried to communicate to my family how I feel about end-of-life care, can we always know what we will want? Perhaps at the end of my life I will not welcome visitors, either. For departing may require as much concentration as arriving. As I look down at the vulnerable bundle I am holding, I marvel that each and every one of us has managed to come in and will also have to manage to go out. The baby nestles, pursing his mouth around the pacifier. He gazes intently at my face with a sly gaze that drifts toward a lamp, turning speculative before lids lower in tremulous increments.

Slowing my jiggling to his faint sucking, I think that the philosopher Jacques Derrida’s meditation on death pertains to birth as well. Each of these events “names the very irreplaceability of absolute singularity.” Just as “no one can die in my place or in the place of the other,” no one can be born in this particular infant’s place. He embodies his irreplaceable and absolute singularity.

Perhaps we should gestate during endings, as we do during beginnings. Like hatchings, the dispatchings caused by cancer give people like Kim and me a final trimester, more or less, in which we can labor to forgive and be forgiven, to speak and hear vows of devotion from our intimates, to visit or not be visited by acquaintances.

Maybe we need a doula for dying, I reflect as melodious words surface, telling me what I have to do with the life left to be lived: “To love that well, which thou must leave ere long.”

“Oh little baby,” I then whisper: “Though I cannot tell who you will become and where I will be — you, dear heart, deliver me.”

---

Susan Gubar is a distinguished emerita professor of English at Indiana University and the author of “Memoir of a Debulked Woman,” which explores her experience with ovarian cancer.

Read More..

H.P. Reports Decline in Revenue and Profit

SAN FRANCISCO — Battling a declining demand for personal computers, Hewlett-Packard, the world’s largest maker of PCs, reported lower quarterly earnings on Thursday.

The earnings were significantly higher than analysts had expected, however.

“The turnaround is starting to gain traction as a result of the actions we took in 2012 to lay the foundation of H.P.’s future,” Meg Whitman, the chief executive, said in a statement accompanying the earnings. “I feel good about the rest of the year.”

H.P. said net income fell 16 percent to $1.2 billion, or 63 cents a share, from the year-ago quarter.

The company said revenue fell 6 percent, to $28.4 billion.

Wall Street analysts had expected net income of 71 cents a share and revenue of $27.8 billion, according to a survey of analysts by Thomson Reuters.

H.P., based in Palo Alto, Calif., is one of the world’s largest suppliers of both PCs and computer servers. Demand for PCs has been shrinking, because of the popularity of tablets and smartphones, which H.P. doesn’t make. Servers face shrinking profit margins as more companies look beyond brand names and buy low-priced machines in bulk from Asian vendors.

Under Ms. Whitman, H.P. has focused on restructuring its printers and high-end server business to incorporate more data-analysis software that searches for documents and compiles reports like the energy use of the data center. She has warned, however, that the turnaround may take until 2017. In 2012, the company announced it would lay off 29,000 employees.

H.P.’s earnings announcement comes two days after a report of lower revenue and earnings by Dell Computer, H.P.’s main American rival.

Dell said its first-quarter revenue fell 11 percent, to $14.3 billion, while net income was off 31 percent, to $530 million, or 30 cents a share.

Michael Dell, Dell’s founder, has proposed taking his company private, for about $24.4 billion, to focus on restructuring the company away from the eyes of Wall Street.

Read More..

Interstate 5 reopens through the Grapevine

From Times Staff

February 20, 2013, 9:44 a.m.

The California Highway Patrol has reopened a stretch of Interstate 5 through the Grapevine that was closed earlier today because of ice.

The highway was opened to vehicles with escorts at about 9:15 a.m., said CHP Officer Ed Jacobs. The freeway was closed between Castaic and Grapevine Road about 6:35 a.m., Jacobs said.

Comments are filtered for language and registration is required. The Times makes no guarantee of comments' factual accuracy. Readers may report inappropriate comments by clicking the Report Abuse link next to a comment. Here are the full legal terms you agree to by using this comment form.

';
shareDiv.innerHTML = templateHTML;

/* append the new div to the end of the document, which is hidden already with CSS */
document.body.appendChild(shareDiv);

/* Store the div in both a regular JavaScript variable and as a jQuery object so we can reference them faster later */
var shareTip = document.getElementById('shareTip'),
$shareTip = $('#shareTip');

/* This extends our settings object with any user-defined settings passed to the function and returns the jQuery object shareTip
was called on */
return this.each(function() {
if (options) {
$.extend(settings, options);
}

/* This is a hack to make sure the shareTip always fades back to 100% opacity */
var checkOpacity = function (){
if ( $shareTip.css('opacity') !== 1 ){
$shareTip.css({'opacity': 1});
}
};

/* Function that replaces the HTML in the shareTip with the template we defined at the top */
/* It will wipe/reset the links on the social media buttons each time the function is called */
var removeLinks = function (){
shareTip.innerHTML = templateHTML;
};

/* This is the function that makes the links for the Tweet / Share functionality */

var makeURLS = function (link, message){
/* Here we construct the Tweet URL using an array, with values passed to the function */
var tweetConstruct = [
'http://twitter.com/share?url=', link, '&text=', message, '&via=', settings.twitter_account
],
/* Then join the array into one chunk of HTML */
tweetURL = tweetConstruct.join(''),

/* Same story for Facebook */
fbConstruct = [
'http://www.facebook.com/sharer.php?u=', link, '&src=sp'
],

fbURL = fbConstruct.join(''),

newHTML = [
''
],
shareHTML = newHTML.join('');
/* Load in our new HTML */
shareTip.innerHTML = shareHTML;
};

/* Since the shareTip will automatically fade out when the user mouses out of an element */
/* we have to specifically tell the shareTip we want it to stay put when the user mouses over it */
/* This effectively gives the user a 500 ms (or whatever) window to mouse */
/* from the element to the shareTip to prevent it from popping out */
$shareTip.hover(function(){
$shareTip.stop(true, true);
$shareTip.show();
checkOpacity();
}, function(){
$(this).fadeOut(settings.speed);
});

/* This function handles the hover action */
$(this).hover(function(){
/* remove the old links, so someone doesn't accidentally click on them */
removeLinks();

/* If there's already an animation running on the shareTip, stop it */
$shareTip.stop(true, true);

var eso = $(this),
message,
/* Store the width and height of the shareTip and the offset of the element for our calculations */
height = eso.height(),
width = eso.width(),
offset = eso.offset(),
link;


link = eso.children('a').attr('href');
message = escape( eso.find('img').attr('alt') ) || eso.attr(settings.message_attr);

if (link.search('http://') === -1){
link = 'http://www.latimes.com' + link;
}
link = encodeURIComponent(link);

/* If it's at the top of the page, the shareTip will pop under the element */
if (offset.top

Read More..

Curiosity Rover Ready to Analyze Martian Time Capsule From Inside of Rock

After a long and careful hole drilling operation, NASA’s Curiosity rover has collecting powdered rock representing the first sample ever acquired from the interior of Mars.

The tablespoon of crushed rock will be sent through the rover’s suite of state-of-the-art instruments, which will provide important information about the ancient landscape at Gale crater and its potential habitability. Curiosity has already uncovered evidence that the spot it is currently placed at, Yellowknife Bay, is an ancient riverbed with a complex history of water. The rover’s science team described the interior sample as time capsule preserving a record of the environment in which the rocks formed.

“We’ve been preparing for this for weeks and months so you can image how happy it makes us to see it successfully completed,” said engineer Avi Okron, a member of the rover drilling team, during a NASA press conference on Feb. 20.

About two weeks ago, Curiosity drilled its first 2-cm-deep test hole on Mars, followed a few days later by a full drill hole 6.4 cm deep. The rover’s rotary percussive drill hammered into the rock as it bored down, collecting a fine powder from at least 5 cm below the surface of the rock. This bit of crushed rock was placed in Curiosity’s scoop, where it was processed further and delivered to the rover’s internal instruments, CheMin and SAM. The former instrument will bombard the sample with X-rays to reveal its composition while the latter will identify the individual elements from inside the rock.

The local geology at Yellowknife Bay suggests that Curiosity will find a rich and complicated history of water. The area around the rover is made of large bedrocks featuring veins containing different minerals and spherical nodules. The rocks are made of fine grains, too small to be resolved by the rover’s hand-held MAHLI camera, indicating that they are likely either siltstone or mudstone, both of which could have been deposited by water. Since the interior sample hasn’t been exposed to surface weathering processes, they will provide a clean example of the early history of Mars and whether or not it was favorable to life.

Because this is the first time the rover’s drill has been used on Mars, the sample may still have some residual contaminants from Earth. The science team actually wants to analyze this impure material because the contaminants will be scrubbed away each time a new sample is taken. Researchers can watch as the contaminants disappear in subsequent samples and figure out exactly what came from our planet and what is native to Mars.

Adam is a Wired Science staff writer. He lives in Oakland, Ca near a lake and enjoys space, physics, and other sciency things.

Read more by Adam Mann

Follow @adamspacemann on Twitter.

Read More..

Well: Effects of Bullying Last Into Adulthood, Study Finds

Victims of bullying at school, and bullies themselves, are more likely to experience psychiatric problems in childhood, studies have shown. Now researchers have found that elevated risk of psychiatric trouble extends into adulthood, sometimes even a decade after the intimidation has ended.

The new study, published in the journal JAMA Psychiatry on Wednesday, is the most comprehensive effort to date to establish the long-term consequences of childhood bullying, experts said.

“It documents the elevated risk across a wide range of mental health outcomes and over a long period of time,” said Catherine Bradshaw, an expert on bullying and a deputy director of the Center for the Prevention of Youth Violence at Johns Hopkins University, which was not involved in the study.

“The experience of bullying in childhood can have profound effects on mental health in adulthood, particularly among youths involved in bullying as both a perpetuator and a victim,” she added.

The study followed 1,420 subjects from Western North Carolina who were assessed four to six times between the ages of 9 and 16. Researchers asked both the children and their primary caregivers if they had been bullied or had bullied others in the three months before each assessment. Participants were divided into four groups: bullies, victims, bullies who also were victims, and children who were not exposed to bullying at all.

Participants were assessed again in young adulthood — at 19, 21 and between 24 and 26 — using structured diagnostic interviews.

Researchers found that victims of bullying in childhood were 4.3 times more likely to have an anxiety disorder as adults, compared to those with no history of bullying or being bullied.

Bullies who were also victims were particularly troubled: they were 14.5 times more likely to develop panic disorder as adults, compared to those who did not experience bullying, and 4.8 times more likely to experience depression. Men who were both bullies and victims were 18.5 times more likely to have had suicidal thoughts in adulthood, compared to the participants who had not been bullied or perpetuators. Their female counterparts were 26.7 times more likely to have developed agoraphobia, compared to children not exposed to bullying.

Bullies who were not victims of bullying were 4.1 times more likely to have antisocial personality disorder as adults than those never exposed to bullying in their youth.

The effects persisted even after the researchers accounted for pre-existing psychiatric problems or other factors that might have contributed to psychiatric disorders, like physical or sexual abuse, poverty and family instability.

“We were actually able to say being a victim of bullying is having an effect a decade later, above and beyond other psychiatric problems in childhood and other adversities,” said William E. Copeland, lead author of the study and an associate professor of psychiatry and behavioral sciences at Duke University Medical Center.

Bullying is not a harmless rite of passage, but inflicts lasting psychiatric damage on a par with certain family dysfunctions, Dr. Copeland said. “The pattern we are seeing is similar to patterns we see when a child is abused or maltreated or treated very harshly within the family setting,” he said.

One limitation of the study is that bullying was not analyzed for frequency, and the researchers’ assessment did not distinguish between interpersonal and overt bullying. It only addressed bullying at school, not in other settings.

Most of what experts know about the effects of bullying comes from observational studies, not studies of children followed over time.

Previous research from Finland, based on questionnaires completed on a single occasion or on military registries, used a sample of 2,540 boys to see if being a bully or a victim at 8 predicted a psychiatric disorder 10 to 15 years later. The researchers found frequent bully-victims were at particular risk of adverse long-term outcomes, specifically anxiety and antisocial personality disorders. Victims were at greater risk for anxiety disorders, while bullies were at increased risk for antisocial personality disorder.

Read More..

Boeing to Propose Battery Fixes to F.A.A.

A top Boeing executive plans to meet with the head of the Federal Aviation Administration on Friday to propose fixes for the battery problems that have grounded its innovative 787 jets, industry and government officials said Wednesday.

They said the company feels confident that it has narrowed down the possible ways that the new lithium-ion batteries could fail, increasing the chances that a handful of changes might provide enough assurance that the batteries would be safe to use.

The F.A.A.’s top official, Michael Huerta, is not expected to approve the changes on Friday when he is scheduled to meet with Ray Conner, the president of Boeing’s commercial airplane division. But the meeting could start a high-level discussion and provide Boeing with early guidance on the mix of changes that would be needed to get the planes back in the air.

The government and industry officials agreed that Boeing will ultimately have to redesign at least part of the batteries to eliminate the risk that a short-circuit or fire in one of the eight cells inside could spread to the others, as investigators have said occurred on a battery that caught fire at a Boston airport on Jan. 7.

One important question is how far Boeing will have to go in making the changes before the F.A.A. will let airlines resume flights with the 50 jets that have already been delivered.

The officials said Boeing might have to take some immediate steps to insulate the cells from one another and then make greater changes over time to further eliminate possible ways that the batteries could fail.

Boeing, based in Chicago, would also have to wall off the battery within a sturdier metal container, add systems to monitor the activity inside each cell and create channels to vent any hazardous materials outside the plane.

Until now, most of the public statements by regulators have focused on the need to pin down the cause of the battery problems. But investigators, now weeks into their work, have been able to find only limited clues in the charred remains of the two batteries.

As a result, government and outside experts, working closely with Boeing engineers, have been studying the recent problems and research on lithium-ion batteries carried out since Boeing won approval for its batteries in 2007 and, in essence, trying to come up with a safer design.

Aviation experts said the examination of such changes reflected what could end up being a difficult calculation for safety regulators: Will there be a way to ensure the safety of the batteries if they cannot tell for certain what set off the problems on the two planes?

The F.A.A. and other regulators around the world grounded the new fuel-efficient planes after another one of the jets made an emergency landing in Japan on Jan. 16 with smoke in the battery compartment.

The lithium-ion batteries weigh less but provide more energy than conventional batteries, and the 787s make greater use of them than other planes. The stakes are substantial for Boeing, which will have to pay penalties to some of the airlines that have been unable to use them. Boeing also cannot deliver more of the planes while they are grounded.

The company has orders for 800 additional planes, which are expected to usher in a new era in aviation. The jets rely as well on lightweight carbon composites and new engines to cut fuel consumption by 20 percent.

Federal and industry officials said Boeing would probably have to spread the eight cells in the batteries farther apart — or increase the insulation between them — to keep a failure in one cell from cascading to the others in the “thermal runaway” that led to the smoke and fire.

Battery experts are also looking into whether vibrations in flight could have added to the risks of unwanted contact between the cells.

But it is not clear how long it will take to make each of these changes and test them to the satisfaction of regulators. So engineers for the F.A.A and Boeing have been discussing which changes would have to be made immediately and which ones could be added later.

Government and industry officials that it was still too early to know if Boeing’s current plans would satisfy regulators and the flying public.

Read More..

O.C. shootings: Plumber was chased, gunned down, co-worker says

One of the victims in Tuesday's shootings and carjackings in Orange County was identified by co-workers as a plumber who was working at a hotel construction site in Tustin near the scene of one of the fatal confrontations. Another plumber at the site was shot and wounded as he apparently attempted to aid his co-worker.

Three people have been reported killed and at least two seriously injured in the morning's violence, which apparently started in a residential compound in Ladera Ranch and ended in a center median in Orange where a man believed to have been the assailant got out of a vehicle and shot himself to death with a shotgun, authorities said.

Employees at the construction site in Tustin said a plumber working at the under-construction Fairfield Inn on Edinger Avenue near the 55 Freeway was chased and killed by the gunman.

The man was shot at an overflow parking lot, across the street from the construction project, workers said. Workers said the victim was one of 70 to 80 people finishing off the hotel and a neighboring Marriott Residence Inn.

Tom Van Schindel, a project superintendent at the site, said he heard the gunfire but -- given the noise in the construction zone -- wasn't initially certain what it was.

But he said another plumber later told police that he heard some noise and glanced through a third-story window at the Fairfield. That man spotted the victim running across the overflow parking lot.

Van Schindel said the second man told police that he scampered down from the third story, jumped in his white utility vehicle and sped across the street to come to the aid of his fellow plumber.

The would-be rescuer, Van Schindel said, was apparently shot once and wounded when he reached the overflow parking lot. The other plumber, he said he was told, was killed.

An employee with KBL Plumbing in Rancho Cucamonga, where the two men were said to be employed, said one of its workers was killed and one was injured Tuesday. There were no further details.

The suspect's alleged series of killings appeared to begin early Tuesday at a home in Ladera Ranch, where Orange County Sheriff's Department spokesman Jim Amormino said deputies found a woman shot to death about 4:45 a.m.
Deputies were called to the house on Red Leaf Lane when someone inside reported a shooting, Amormino said. It was unclear whether anyone else was home at the time, but no other injuries were reported.

The suspect, initially described as a man in his 20s, fled the area in an SUV to Tustin, where "multiple incidents" occurred in the city and near the Santa Ana border, Amormino said.

"There's a lot to sort out," he told The Times.

Read More..

Sailboat Crew Breaks Speed Record in NY-to-SF Voyage

Famed Italian skipper Giovanni Soldini and his tireless crew of eight sailors obliterated the record for sailing the “Golden Route” from New York to San Francisco, shaving a full 10 days off the previous record around the tip of South America.

The crew pulled into San Francisco Bay aboard the VOR70 Maserati on Saturday, precisely 47 days and 42 minutes after leaving New York and sailing around Cape Horn, following a challenging 13,225-mile route made popular during the Gold Rush — hence the name. The crew easily eclipsed the record set in 1998 by Yves Parlier when Aquitaine Innovations made the journey in 57 days and 3 hours.

“We are happy!” Soldini said in a statement. “The Golden Route is an historic record, a very important and challenging one…. Maserati proved to be a powerful boat, a technological and reliable one. The crew has been extraordinary, everyone was prepared to face even the hardest situation.”

The monohull VOR70 is a far higher performer than the previous record holder. It is a Volvo 70 monohull, the fastest of its type, with a carbon-fiber honeycomb construction. These babies go for about $4 million new, but Soldini’s boat, formerly the Erikson III, is a 2006 model outfitted specifically for this mission. The boat was optimized for high winds to make the fastest time. She’s 70 feet long and 20 feet wide, with a mast 105 feet tall and an 18-foot keel. It sports a canting keel that pivots out of the hull to more effectively counterbalance the sails. This technology, developed in the past 10 years or so, allows for greater speed by adding power and stabilizing the boat. The sails are of Kevlar, the same stuff you find in soldiers’ body armor.

Forecasting technology also advanced alongside the boats in the days since Parlier set the record, providing Soldini’s crew with far more accurate data than Parlier had available. The crew relied upon laptops and a satellite antenna to download the latest weather data and images.

Still, sailing is sailing, and all the technology in the world won’t make a bad crew into a good one and it can’t replace the expertise of a seasoned skipper.

“The cool thing about records is they are traditional,” crewmember Ryan Breymaier told Wired a few days ago, while the boat was still 800 miles south of San Francisco. “Maserati is mixing with tradition in a modern way.”

And how did Maserati get involved? Soldini is friends with the top brass at Fiat Group, which owns Maserati, and he convinced him to put up the money to buy the boat. The original plan had Soldini doing the Volvo Ocean Race, but it’s a much bigger undertaking, so he decided to challenge the Golden Route record.

The historic route was heavily used by clippers during the gold rush of the mid and late 1800s. It is a difficult journey that takes sailors through a variety of weather conditions, including the Doldrums and the westerly gales at Cape Horn. Flying Cloud set the record at 89 days and 8 hours in 1854, a record that stood for more than 130 years until Warren Luhrs and Thursday’s Child made the journey in 80 days and 20 hours in 1989.

“It’s not really the record we’re beating but the record we’re setting that counts,” said Breymaier. “It will be difficult to break later on. We’re racing whoever is coming after.”

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.

Read More..