NEW YORK (Reuters Health) - Nearly one in ten U.S. children undergoing spine fusion surgery get injections with bioengineered bone-growth proteins that have not been green-lighted for that use by health regulators, researchers have found.
So-called 'off-label' use of medical therapies is legal, but has triggered concerns because its risks and benefits are not well understood. Yet the new study shows the orthopedic products add more than $4,000 in hospital charges for the surgery.
'It is expensive, we don't know if it's effective, and we don't know what the long-term implications are,' said Dr. Emily Dodwell, a surgeon at the Hospital for Special Surgery in New York, who led the research.
Bone-growth proteins speed up bone formation and have been approved by the U.S. Food and Drug Administration for limited use in adults. But they have a troubled history.
Last year, a medical journal determined that doctors paid millions of dollars by Minneapolis-based Medtronic had failed to report serious complications linked to the company's product Infuse, also known as bone morphogenetic protein-2 or BMP-2.
Those complications include increased cancer risk, sterility in men, infections, bone dissolution and worsened back and leg pain, among others.
While it's unclear whether children would experience similar side effects, a particular concern is how BMPs would interact with a still-growing skeleton, Dodwell told Reuters Health.
What's more, there are no good data on whether or not the products help youngsters, who are less likely to have healing problems than adults after spine surgeries, according to the new report, published in the Journal of the American Medical Association.
At about 4,100 hospitals that are part of the national registry studied by the researchers, 9.2 percent of more than 8,000 spine fusions in people 18 years and younger involved BMPs.
'I think most people would feel this is a high number,' Dodwell noted, although she stopped short of saying BMP should never be used in minors.
In cases where BMP was used, patients racked up hospital bills of $47,136 on average, compared to $43,126 when surgeons didn't use the product.
There was no difference in the number of complications seen during the hospital stay in the two groups, although Dodwell and her colleagues cautioned that long-term complications are the main concern. She said her team is currently analyzing data from another registry to see how kids fare after they leave the hospital.
The researchers also found that doctors more frequently used BMP in the Midwest, which is home to both Medtronic and Stryker, another manufacturer. Medtronic could not be immediately reached for comment.
Dodwell said this finding is 'quite possibly related to industry relationships and the training of the surgeons.'
SOURCE: http://bit.ly/MvXYT6 Journal of the American Medical Association, online October 9, 2012.
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Tuesday, October 9, 2012
Mother's fish, mercury intake tied to kids' ADHD risk: study
(Reuters) - Children's risk of developing attention-deficit/hyperactivity disorder (ADHD) later in life may be tied to how much fish their mothers ate while pregnant, according to a U.S. study.
Researchers writing in the Archives of Pediatrics & Adolescent Medicine found that eating at least two servings of fish per week was linked to about a 60 percent lower risk of kids developing certain ADHD-like symptoms.
But elevated mercury levels, which can also come from eating more fish - depending on the fish - were tied to a higher risk of developing the symptoms, such as hyperactivity, impulsiveness and inattentiveness.
Though the study did not prove cause and effect, and did not use a formal diagnosis of ADHD, it may offer insights into a condition that's estimated to have an impact on one in 10 children in the United States, researchers say.
'The really important message is to eat fish,' said Sharon Sagiv, the study's lead author from the Boston University School of Public Health.
'Just stay away from mercury-containing fish, because these protective effects are pretty important.'
Sagiv said it's best to stay away from 'big fishes,' such as tuna and swordfish, which typically contain the most mercury. Instead, stick to fishes such as haddock and salmon.
Past studies looking at the link between mercury and ADHD have produced conflicting results.
For the new study, the researchers followed 788 children who were born near New Bedford, Massachusetts, between 1993 and 1998. They used hair samples taken from the mothers right after delivery to test their mercury levels, and food diaries to see how much fish they ate.
Then, once the children were about 8 years old, the researchers asked their teachers to evaluate the kids' behaviors to see how many exhibited ADHD-like symptoms.
After taking all of the information into account, the researchers found 1 microgram of mercury per gram of a mother's hair - about eight times the average levels found in similar women's hair in another analysis - was tied to about a 60 percent increase in the risk of their child exhibiting ADHD-like behaviors.
But there was no link below 1 microgram of mercury per gram of a mother's hair.
Sagiv added that the negative effects from lower levels of mercury may be canceled out by the benefits from eating fish. The children appeared to be 60 percent less likely to exhibit impulsive or hyperactive behaviors if their mothers ate two or more servings of fish per week.
That finding conflicts with the U.S. government's recommendation that says pregnant women should eat no more than two six-ounce servings of fish per week to limit their exposure to mercury.
'I think it does call into question those guidelines, but this is only one study and the results should be confirmed,' Sagiv told Reuters health.
In an editorial that appeared with the study, Bruce Lanphear at Simon Fraser University in Vancouver, echoed Sagiv's advice on avoiding 'big fishes.'
In the long term, we have to really find ways to fight contamination levels in fish so years from now we don't have to give this advice,' he added. SOURCE: http://bit.ly/Ms92Cy
(Reporting from New York by Andrew Seaman at Reuters Health; editing by Elaine Lies)
This article is brought to you by RELATIONSHIPS ADVICE.
Researchers writing in the Archives of Pediatrics & Adolescent Medicine found that eating at least two servings of fish per week was linked to about a 60 percent lower risk of kids developing certain ADHD-like symptoms.
But elevated mercury levels, which can also come from eating more fish - depending on the fish - were tied to a higher risk of developing the symptoms, such as hyperactivity, impulsiveness and inattentiveness.
Though the study did not prove cause and effect, and did not use a formal diagnosis of ADHD, it may offer insights into a condition that's estimated to have an impact on one in 10 children in the United States, researchers say.
'The really important message is to eat fish,' said Sharon Sagiv, the study's lead author from the Boston University School of Public Health.
'Just stay away from mercury-containing fish, because these protective effects are pretty important.'
Sagiv said it's best to stay away from 'big fishes,' such as tuna and swordfish, which typically contain the most mercury. Instead, stick to fishes such as haddock and salmon.
Past studies looking at the link between mercury and ADHD have produced conflicting results.
For the new study, the researchers followed 788 children who were born near New Bedford, Massachusetts, between 1993 and 1998. They used hair samples taken from the mothers right after delivery to test their mercury levels, and food diaries to see how much fish they ate.
Then, once the children were about 8 years old, the researchers asked their teachers to evaluate the kids' behaviors to see how many exhibited ADHD-like symptoms.
After taking all of the information into account, the researchers found 1 microgram of mercury per gram of a mother's hair - about eight times the average levels found in similar women's hair in another analysis - was tied to about a 60 percent increase in the risk of their child exhibiting ADHD-like behaviors.
But there was no link below 1 microgram of mercury per gram of a mother's hair.
Sagiv added that the negative effects from lower levels of mercury may be canceled out by the benefits from eating fish. The children appeared to be 60 percent less likely to exhibit impulsive or hyperactive behaviors if their mothers ate two or more servings of fish per week.
That finding conflicts with the U.S. government's recommendation that says pregnant women should eat no more than two six-ounce servings of fish per week to limit their exposure to mercury.
'I think it does call into question those guidelines, but this is only one study and the results should be confirmed,' Sagiv told Reuters health.
In an editorial that appeared with the study, Bruce Lanphear at Simon Fraser University in Vancouver, echoed Sagiv's advice on avoiding 'big fishes.'
In the long term, we have to really find ways to fight contamination levels in fish so years from now we don't have to give this advice,' he added. SOURCE: http://bit.ly/Ms92Cy
(Reporting from New York by Andrew Seaman at Reuters Health; editing by Elaine Lies)
This article is brought to you by RELATIONSHIPS ADVICE.
Monday, October 8, 2012
Mom's fish, mercury intake tied to kids' ADHD risk
NEW YORK (Reuters Health) - Children's risk of developing attention-deficit/hyperactivity disorder (ADHD) later on in life may be tied to how much fish their mothers ate while pregnant, according to a new study.
Researchers found that eating at least two servings of fish per week was linked to about a 60 percent lower risk of kids developing certain ADHD-like symptoms. However, elevated mercury levels, which can come from eating more fish, were tied to a higher risk of developing the symptoms, such as hyperactivity, impulsiveness and inattentiveness.
While the study cannot prove cause and effect and did not use a formal diagnosis of ADHD, it may offer insights into a condition that's estimated to impact one in 10 children in the United States, researchers say.
'The really important message is to eat fish. Just stay away from mercury containing fish, because these protective effects are pretty important,' said Sharon Sagiv, the study's lead author from the Boston University School of Public Health in Massachusetts.
Sagiv said it's best to stay away from 'big fishes,' which typically contain the most mercury. Those are fishes like tuna and swordfish. Instead, she said, stick to fishes like haddock and salmon.
Past studies looking at the link between mercury and ADHD have produced conflicting results, which is why Sagiv and her fellow researchers, from Brigham and Women's Hospital in Boston, decided to look at this issue.
For the new study, the researchers followed 788 children who were born near New Bedford, Massachusetts, between 1993 and 1998.
The researchers used hair samples taken from the mothers right after delivery to test their mercury levels, and food diaries to see how much fish they ate.
Then, once the children were about 8 years old, the researchers asked their teachers to evaluate the kids' behaviors to see how many exhibited ADHD-like symptoms.
After taking all of the information into account, the researchers found 1 microgram of mercury per gram of a mother's hair - about eight times the average levels found in similar women's hair in another analysis - was tied to about a 60 percent increase in the risk of their child exhibiting ADHD-like behaviors.
The researchers saw no link below 1 microgram of mercury per gram of a mother's hair.
She added that the negative effects from lower levels of mercury may be canceled out by the benefits from eating fish.
In the study, children appeared to be 60 percent less likely to exhibit impulsive or hyperactive behaviors if their mothers ate two or more servings of fish per week.
That finding conflicts with the U.S. government's recommendation that says pregnant women should eat no more than two six-ounce servings of fish per week to limit their exposure to mercury.
'I think it does call into question those guidelines, but this is only one study and the results should be confirmed,' Sagiv told Reuters Health.
Dr. Bruce P. Lanphear, who wrote an editorial accompanying the new study in the Archives of Pediatrics & Adolescent Medicine, echoed Sagiv's advice on avoiding 'big fishes.'
But Lanphear, of Simon Fraser University in Vancouver, also told Reuters Health that there are other ways to solve the problem.
'In the long term we have to really find ways to fight contamination levels in fish so years from now we don't have to give this advice,' he said.
SOURCE: http://bit.ly/Ms92Cy Archives of Pediatrics & Adolescent Medicine, online October 8, 2012.
This article is brought to you by RELATIONSHIPS ADVICE.
Researchers found that eating at least two servings of fish per week was linked to about a 60 percent lower risk of kids developing certain ADHD-like symptoms. However, elevated mercury levels, which can come from eating more fish, were tied to a higher risk of developing the symptoms, such as hyperactivity, impulsiveness and inattentiveness.
While the study cannot prove cause and effect and did not use a formal diagnosis of ADHD, it may offer insights into a condition that's estimated to impact one in 10 children in the United States, researchers say.
'The really important message is to eat fish. Just stay away from mercury containing fish, because these protective effects are pretty important,' said Sharon Sagiv, the study's lead author from the Boston University School of Public Health in Massachusetts.
Sagiv said it's best to stay away from 'big fishes,' which typically contain the most mercury. Those are fishes like tuna and swordfish. Instead, she said, stick to fishes like haddock and salmon.
Past studies looking at the link between mercury and ADHD have produced conflicting results, which is why Sagiv and her fellow researchers, from Brigham and Women's Hospital in Boston, decided to look at this issue.
For the new study, the researchers followed 788 children who were born near New Bedford, Massachusetts, between 1993 and 1998.
The researchers used hair samples taken from the mothers right after delivery to test their mercury levels, and food diaries to see how much fish they ate.
Then, once the children were about 8 years old, the researchers asked their teachers to evaluate the kids' behaviors to see how many exhibited ADHD-like symptoms.
After taking all of the information into account, the researchers found 1 microgram of mercury per gram of a mother's hair - about eight times the average levels found in similar women's hair in another analysis - was tied to about a 60 percent increase in the risk of their child exhibiting ADHD-like behaviors.
The researchers saw no link below 1 microgram of mercury per gram of a mother's hair.
She added that the negative effects from lower levels of mercury may be canceled out by the benefits from eating fish.
In the study, children appeared to be 60 percent less likely to exhibit impulsive or hyperactive behaviors if their mothers ate two or more servings of fish per week.
That finding conflicts with the U.S. government's recommendation that says pregnant women should eat no more than two six-ounce servings of fish per week to limit their exposure to mercury.
'I think it does call into question those guidelines, but this is only one study and the results should be confirmed,' Sagiv told Reuters Health.
Dr. Bruce P. Lanphear, who wrote an editorial accompanying the new study in the Archives of Pediatrics & Adolescent Medicine, echoed Sagiv's advice on avoiding 'big fishes.'
But Lanphear, of Simon Fraser University in Vancouver, also told Reuters Health that there are other ways to solve the problem.
'In the long term we have to really find ways to fight contamination levels in fish so years from now we don't have to give this advice,' he said.
SOURCE: http://bit.ly/Ms92Cy Archives of Pediatrics & Adolescent Medicine, online October 8, 2012.
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Sunday, October 7, 2012
Study finds "dramatic" rise in kids' CT scans
NEW YORK (Reuters Health) - Emergency rooms across the U.S. have seen a steep increase in CT scans of kids presenting with belly ache, while the appendicitis rate hasn't budged, new research shows.
The x-ray-based scans offer doctors a high-resolution peek into the body, but their growing popularity has been trailed by concerns over cancer risks down the road.
The new findings, out Monday in the journal Pediatrics, show CT scans in children with abdominal pain rose from less than one percent to more than 15 percent between 1998 and 2008.
'That is basically saying for every six or seven kids that go to the ER for belly ache, one is going to get a CT scan,' Dr. Jahan Fahimi, who led the new work, told Reuters Health.
'There have been a lot of studies showing we use CT scans a lot more,' he said, 'but it's unclear whether we are actually making a significant impact on the care we provide.'
It's estimated that getting two or three scans - variously known as CT, CAT or computed tomography scans - can damage cells enough to raise a person's cancer risk, particularly in children. But the extra risk is still very small from an individual's perspective.
'I tell my patients that the CAT scan I do today has a chance of causing cancer at some point down the road,' said Fahimi, an emergency physician at the University of California, San Francisco. 'That risk may be one in 500, it may be one in 1,000, but it's not zero.'
CT scans typically cost between a few and several hundred dollars.
Based on a large national database, Fahimi and his colleagues found the number of children showing up with belly ache at ERs held steady at around six percent; the rate of diagnosed appendicitis - the major concern in such cases - fluctuated between two and eight percent without a clear pattern.
The use of other kinds of medical imaging, such as traditional x-rays and ultrasound, also didn't change.
'The only thing that has changed is CAT scans have gone up,' said Fahimi, also of Highland Hospital in Oakland, California. 'There is probably some benefit to it, but I don't know if that benefit tracks with the risk.'
Dr. Brigitte Baumann, an emergency physician at Cooper University Hospital in Camden, New Jersey, said she was not surprised by the findings.
'The rate of CTs that we are doing at this point is clearly very high and it is concerning,' said Baumann, who was not involved in the new work. 'It sort of is a one-stop-shopping imaging modality.'
Whether or not it makes sense to use CT imaging depends on the specific case, Baumann and Fahimi agreed.
Both said ultrasound, which doesn't carry cancer risks, is often the better alternative. But it, too, has its limitations, such as being operator-dependent and often not available around the clock.
The study also showed black children and uninsured were less likely to get a CT scan for belly aches. That's concerning, said Fahimi, but 'you can't really say if it's a good thing or a bad thing,' given the unclear risk-benefit balance of the technology.
Fahimi said the scan's popularity could have something to do with doctors trying to guard themselves against malpractice lawsuits.
'A missed appendicitis is one of the top three reasons why emergency physicians will get sued,' he told Reuters Health.
Baumann added that doctors might also be less inclined to do surgery today if they aren't certain it's appendicitis.
So what should parents do with all that uncertainty about risks and benefits? Fahimi said that before doing a CT scan, he often suggests waiting four to eight hours to see if the child gets better on its own, unless it looks really sick.
'I think it's fairly safe to wait if the pain is not so severe,' he said.
SOURCE: http://bit.ly/cxXOG Pediatrics, online October 8, 2012.
This article is brought to you by RELATIONSHIP ADVICE.
The x-ray-based scans offer doctors a high-resolution peek into the body, but their growing popularity has been trailed by concerns over cancer risks down the road.
The new findings, out Monday in the journal Pediatrics, show CT scans in children with abdominal pain rose from less than one percent to more than 15 percent between 1998 and 2008.
'That is basically saying for every six or seven kids that go to the ER for belly ache, one is going to get a CT scan,' Dr. Jahan Fahimi, who led the new work, told Reuters Health.
'There have been a lot of studies showing we use CT scans a lot more,' he said, 'but it's unclear whether we are actually making a significant impact on the care we provide.'
It's estimated that getting two or three scans - variously known as CT, CAT or computed tomography scans - can damage cells enough to raise a person's cancer risk, particularly in children. But the extra risk is still very small from an individual's perspective.
'I tell my patients that the CAT scan I do today has a chance of causing cancer at some point down the road,' said Fahimi, an emergency physician at the University of California, San Francisco. 'That risk may be one in 500, it may be one in 1,000, but it's not zero.'
CT scans typically cost between a few and several hundred dollars.
Based on a large national database, Fahimi and his colleagues found the number of children showing up with belly ache at ERs held steady at around six percent; the rate of diagnosed appendicitis - the major concern in such cases - fluctuated between two and eight percent without a clear pattern.
The use of other kinds of medical imaging, such as traditional x-rays and ultrasound, also didn't change.
'The only thing that has changed is CAT scans have gone up,' said Fahimi, also of Highland Hospital in Oakland, California. 'There is probably some benefit to it, but I don't know if that benefit tracks with the risk.'
Dr. Brigitte Baumann, an emergency physician at Cooper University Hospital in Camden, New Jersey, said she was not surprised by the findings.
'The rate of CTs that we are doing at this point is clearly very high and it is concerning,' said Baumann, who was not involved in the new work. 'It sort of is a one-stop-shopping imaging modality.'
Whether or not it makes sense to use CT imaging depends on the specific case, Baumann and Fahimi agreed.
Both said ultrasound, which doesn't carry cancer risks, is often the better alternative. But it, too, has its limitations, such as being operator-dependent and often not available around the clock.
The study also showed black children and uninsured were less likely to get a CT scan for belly aches. That's concerning, said Fahimi, but 'you can't really say if it's a good thing or a bad thing,' given the unclear risk-benefit balance of the technology.
Fahimi said the scan's popularity could have something to do with doctors trying to guard themselves against malpractice lawsuits.
'A missed appendicitis is one of the top three reasons why emergency physicians will get sued,' he told Reuters Health.
Baumann added that doctors might also be less inclined to do surgery today if they aren't certain it's appendicitis.
So what should parents do with all that uncertainty about risks and benefits? Fahimi said that before doing a CT scan, he often suggests waiting four to eight hours to see if the child gets better on its own, unless it looks really sick.
'I think it's fairly safe to wait if the pain is not so severe,' he said.
SOURCE: http://bit.ly/cxXOG Pediatrics, online October 8, 2012.
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South Korea "Baby box" pastor says new law brings more babies
SEOUL (Reuters) - A South Korean pastor who runs a 'baby box' where mothers can leave unwanted infants has seen a sharp increase in the number of newborns being left there because, the pastor says, of a new law aimed at protecting the rights of children.
South Korea is trying to shed a reputation of being a source of babies for adoption by people abroad. It is encouraging domestic adoption and tightening up the process of a child's transfer from birth mother to adoptive parents.
The law that took effect in August is aimed at ensuring adoption is more transparent and makes it mandatory for parents to register newborns if they want to give them up.
But the regulation aimed at seeing more thorough records are kept, though well intentioned, has sparked a surge of undocumented babies being abandoned, said Pastor Lee Jong-rak.
'If you look at the letters that mothers leave with their babies, they say they have nowhere to go, and it's because of the new law,' Lee told Reuters.
Lee, who opened his 'baby box' for unwanted infants three years ago, said he had seen the number being left there shoot up from an average of five a month to 10 in August and 14 in September.
Despite the new law, Lee said he never forced mothers to provide information about the babies they leave in the box, built into the wall of his church in Nangok, a tough working-class neighborhood in the capital, Seoul.
Many of the babies abandoned in the box have physical or mental disabilities. Lee has adopted 10 of them himself and is in the process of adopting four more.
On a recent sunny afternoon, a bell rang in his church to signal a new baby had been left in the box, a boy about two weeks old wrapped in a blanket.
'In the past, babies used to be abandoned at night but nowadays babies are abandoned in the daytime as well,' Lee said with a sigh.
At the moment, Lee is looking after 20 children, aged between 2 and 26, in his cramped two-storey house. Among them, his own son.
But a Ministry of Health and Welfare official questioned Lee's assertion that the new law had led to more babies being dropped in the box.
'It's hard to say there's a specific causal relationship between the law and babies being abandoned in the box,' said the official, who declined to be identified.
'The sudden surge of the babies could be due to many reasons,' said the official.
Lee has been criticized by some people who say his box encourages desperate mothers to give up their babies. But Lee says he will not close the box until he was sure the government can offer adequate protection for abandoned babies.
(Editing by Jack Kim)
This article is brought to you by RELATIONSHIPS ADVICE.
South Korea is trying to shed a reputation of being a source of babies for adoption by people abroad. It is encouraging domestic adoption and tightening up the process of a child's transfer from birth mother to adoptive parents.
The law that took effect in August is aimed at ensuring adoption is more transparent and makes it mandatory for parents to register newborns if they want to give them up.
But the regulation aimed at seeing more thorough records are kept, though well intentioned, has sparked a surge of undocumented babies being abandoned, said Pastor Lee Jong-rak.
'If you look at the letters that mothers leave with their babies, they say they have nowhere to go, and it's because of the new law,' Lee told Reuters.
Lee, who opened his 'baby box' for unwanted infants three years ago, said he had seen the number being left there shoot up from an average of five a month to 10 in August and 14 in September.
Despite the new law, Lee said he never forced mothers to provide information about the babies they leave in the box, built into the wall of his church in Nangok, a tough working-class neighborhood in the capital, Seoul.
Many of the babies abandoned in the box have physical or mental disabilities. Lee has adopted 10 of them himself and is in the process of adopting four more.
On a recent sunny afternoon, a bell rang in his church to signal a new baby had been left in the box, a boy about two weeks old wrapped in a blanket.
'In the past, babies used to be abandoned at night but nowadays babies are abandoned in the daytime as well,' Lee said with a sigh.
At the moment, Lee is looking after 20 children, aged between 2 and 26, in his cramped two-storey house. Among them, his own son.
But a Ministry of Health and Welfare official questioned Lee's assertion that the new law had led to more babies being dropped in the box.
'It's hard to say there's a specific causal relationship between the law and babies being abandoned in the box,' said the official, who declined to be identified.
'The sudden surge of the babies could be due to many reasons,' said the official.
Lee has been criticized by some people who say his box encourages desperate mothers to give up their babies. But Lee says he will not close the box until he was sure the government can offer adequate protection for abandoned babies.
(Editing by Jack Kim)
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Thursday, October 4, 2012
New Test Can Diagnose Genetic Disorders in Infants in 50 Hours
Researchers at Children's Mercy Hospital in Kansas City, Mo., may have hit upon a way to dramatically speed up how fast an infant can be tested for genetic disorders, according to reports by the Associated Press and other media outlets. The hospital announced on Wednesday that it had discovered a way to use a combination of gene-analyzing machinery, computer software, and a baby's symptoms to rapidly narrow down the list of possible causes for the infant's illness.
The initial study conducted by the hospital was small, involving just a few children. The results of the testing model were so promising, however, that the hospital plans to begin using it to help diagnose all ill infants that end up in its neonatal intensive care unit by the end of the year.
Here is some of the key information regarding this new way to use genome-mapping to help diagnose genetic disorders in infants.
* Dr. Stephen Kingsmore, who is the head of the pediatric genome center at Children's Mercy Hospital, told the Associated Press on Wednesday that in addition to using the test in their own hospital, researchers may offer it for use by other hospitals around the country as well, even though the research itself is ongoing.
* Children's Mercy Hospital's test can provide results in a little over two days, at 50 hours from the moment that blood was drawn. Current technology allows for diagnosis in an average of 12 to 14 days, according to Fox News.
* According to a BBC News report, up to one-third of all infants admitted to neonatal intensive care units are there because of genetic disorders, 3,500 of which have been tied to specific genes, some of which can be rare, making diagnosis very difficult.
* Researchers hope to be able to use this new testing model to be able to help determine a course of treatment for ill newborns far earlier, or to be able to determine that treatment would be futile. Currently, about 500 of the 7,500 known genetic disorders are treatable, according to a New York Times report.
* The Fox News report pointed out that while some genetic disorders are untreatable, others, like phenylketonuria (PKU), can be treated if caught early enough. The new test could theoretically greatly increase the time in which doctors could begin providing treatment by catching rare disorders like PKU faster.
* Researchers reportedly first used the test on babies whose genetic disorder had been discovered during autopsy. After the test correctly pinpointed which genetic disorder had killed the infants, it was then used on four more babies in Children's Mercy Hospital's neonatal unit, where it correctly identified the root cause of three of the four infants' illnesses.
* While the test will continue to undergo further study, Dr. Joe Gray, who works in genome analysis for Oregon Health and Science University, told the New York Times on Wednesday that it was "a good step in the right direction."
Vanessa Evans is a musician and freelance writer based in Michigan, with a lifelong interest in health and nutrition issues.
This article is brought to you by RELATIONSHIP ADVICE.
The initial study conducted by the hospital was small, involving just a few children. The results of the testing model were so promising, however, that the hospital plans to begin using it to help diagnose all ill infants that end up in its neonatal intensive care unit by the end of the year.
Here is some of the key information regarding this new way to use genome-mapping to help diagnose genetic disorders in infants.
* Dr. Stephen Kingsmore, who is the head of the pediatric genome center at Children's Mercy Hospital, told the Associated Press on Wednesday that in addition to using the test in their own hospital, researchers may offer it for use by other hospitals around the country as well, even though the research itself is ongoing.
* Children's Mercy Hospital's test can provide results in a little over two days, at 50 hours from the moment that blood was drawn. Current technology allows for diagnosis in an average of 12 to 14 days, according to Fox News.
* According to a BBC News report, up to one-third of all infants admitted to neonatal intensive care units are there because of genetic disorders, 3,500 of which have been tied to specific genes, some of which can be rare, making diagnosis very difficult.
* Researchers hope to be able to use this new testing model to be able to help determine a course of treatment for ill newborns far earlier, or to be able to determine that treatment would be futile. Currently, about 500 of the 7,500 known genetic disorders are treatable, according to a New York Times report.
* The Fox News report pointed out that while some genetic disorders are untreatable, others, like phenylketonuria (PKU), can be treated if caught early enough. The new test could theoretically greatly increase the time in which doctors could begin providing treatment by catching rare disorders like PKU faster.
* Researchers reportedly first used the test on babies whose genetic disorder had been discovered during autopsy. After the test correctly pinpointed which genetic disorder had killed the infants, it was then used on four more babies in Children's Mercy Hospital's neonatal unit, where it correctly identified the root cause of three of the four infants' illnesses.
* While the test will continue to undergo further study, Dr. Joe Gray, who works in genome analysis for Oregon Health and Science University, told the New York Times on Wednesday that it was "a good step in the right direction."
Vanessa Evans is a musician and freelance writer based in Michigan, with a lifelong interest in health and nutrition issues.
This article is brought to you by RELATIONSHIP ADVICE.
Wednesday, October 3, 2012
Two-day test can spot gene diseases in newborns
WASHINGTON (AP) - Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.
The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.
Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasn't done in time to help most of them.
But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit - and may offer testing for babies elsewhere, too - while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.
'For the first time, we can actually deliver genome information in time to make a difference,' predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.
Even if the diagnosis is a lethal disease, 'the family will at least have an answer. They won't have false hope,' he added.
More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases - from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomes crucial.
Sequencing whole genomes - all of a person's DNA - can help when it's not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.
Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours - half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.
That's an estimate: The study counted only the time the blood was being decoded or analyzed, not the days needed to ship the blood to Essex, England, home of a speedy new DNA decoding machine made by Illumina, Inc. - or to ship back the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time.
Specialists not involved with the study said it signals the long-promised usefulness of gene-mapping to real-world medicine finally is close.
'Genomic sequencing like this is very practical and very real now,' said Dr. Arthur Beaudet of the Baylor College of Medicine, which also is working to expand genomic testing in children. 'Fast forward a year, and I think this kind of thing will probably be pretty routine.'
Kingsmore said the speedy test should cost $13,500, and more study is needed for insurers to cover it. But keeping a newborn in ICU costs $8,000 a day, and one question is if the rapid gene-mapping could shorten those stays or avoid futile care, he said.
Among the babies tested was one born with his organs on the wrong side of his body and needing emergency heart surgery. His parents had been told that it was a fluke that his older brother was born the same way, but the new test found an inherited genetic culprit that Kingsmore said will help doctors predict both boys' future treatment needs.
Three other newborns in the study died and the new test uncovered the cause of death for two of them. Kingsmore said that allowed researchers to tell parents that nothing they did during pregnancy was to blame, and to counsel them about the risks of future pregnancies.
After the study concluded, the team has performed rapid gene-mapping with additional families. It uncovered the cause of a mother's two stillbirths, allowing for assisted reproduction to help her next pregnancy be healthy, said Children's Mercy laboratory director Dr. Carol Saunders.
Another study of genetic diagnosis, also published Wednesday, shows that analyzing more than 21,000 genes can often find the cause of unexplained cases of severe mental disability.
Researchers reported in the New England Journal of Medicine that in 16 of 100 patients, they were able to identify genetic mutations that caused the condition. The mutations were not inherited from parents, but rather occurred spontaneously in the egg or sperm.
Joris Veltman, a study author from the Radboud University Nijmegen Medical Center in Nijmegen, the Netherlands, said such an analysis can help families understand the cause and prognosis of the disease. Finding a non-inherited mutation 'tells the parents that this was just bad luck, and tells the mother that she is not to blame for this, nothing went wrong during the pregnancy,' he wrote in an email. It also reveals that the chance of the same mutation affecting a future child would be very low, he said.
Dr. Leslie Biesecker, chief of the genetic disease research branch at the National Human Genome Research Institute, who did not participate in the study, said he expected scientists will be able to identify mutations in a higher fraction of cases as more research is done.
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AP Science Writer Malcolm Ritter contributed to this story from New York.
___ Online:
New England Journal of Medicine: http://www.nejm.org
This article is brought to you by RELATIONSHIPS ADVICE.
The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.
Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasn't done in time to help most of them.
But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit - and may offer testing for babies elsewhere, too - while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.
'For the first time, we can actually deliver genome information in time to make a difference,' predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.
Even if the diagnosis is a lethal disease, 'the family will at least have an answer. They won't have false hope,' he added.
More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases - from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomes crucial.
Sequencing whole genomes - all of a person's DNA - can help when it's not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.
Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours - half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.
That's an estimate: The study counted only the time the blood was being decoded or analyzed, not the days needed to ship the blood to Essex, England, home of a speedy new DNA decoding machine made by Illumina, Inc. - or to ship back the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time.
Specialists not involved with the study said it signals the long-promised usefulness of gene-mapping to real-world medicine finally is close.
'Genomic sequencing like this is very practical and very real now,' said Dr. Arthur Beaudet of the Baylor College of Medicine, which also is working to expand genomic testing in children. 'Fast forward a year, and I think this kind of thing will probably be pretty routine.'
Kingsmore said the speedy test should cost $13,500, and more study is needed for insurers to cover it. But keeping a newborn in ICU costs $8,000 a day, and one question is if the rapid gene-mapping could shorten those stays or avoid futile care, he said.
Among the babies tested was one born with his organs on the wrong side of his body and needing emergency heart surgery. His parents had been told that it was a fluke that his older brother was born the same way, but the new test found an inherited genetic culprit that Kingsmore said will help doctors predict both boys' future treatment needs.
Three other newborns in the study died and the new test uncovered the cause of death for two of them. Kingsmore said that allowed researchers to tell parents that nothing they did during pregnancy was to blame, and to counsel them about the risks of future pregnancies.
After the study concluded, the team has performed rapid gene-mapping with additional families. It uncovered the cause of a mother's two stillbirths, allowing for assisted reproduction to help her next pregnancy be healthy, said Children's Mercy laboratory director Dr. Carol Saunders.
Another study of genetic diagnosis, also published Wednesday, shows that analyzing more than 21,000 genes can often find the cause of unexplained cases of severe mental disability.
Researchers reported in the New England Journal of Medicine that in 16 of 100 patients, they were able to identify genetic mutations that caused the condition. The mutations were not inherited from parents, but rather occurred spontaneously in the egg or sperm.
Joris Veltman, a study author from the Radboud University Nijmegen Medical Center in Nijmegen, the Netherlands, said such an analysis can help families understand the cause and prognosis of the disease. Finding a non-inherited mutation 'tells the parents that this was just bad luck, and tells the mother that she is not to blame for this, nothing went wrong during the pregnancy,' he wrote in an email. It also reveals that the chance of the same mutation affecting a future child would be very low, he said.
Dr. Leslie Biesecker, chief of the genetic disease research branch at the National Human Genome Research Institute, who did not participate in the study, said he expected scientists will be able to identify mutations in a higher fraction of cases as more research is done.
___
AP Science Writer Malcolm Ritter contributed to this story from New York.
___ Online:
New England Journal of Medicine: http://www.nejm.org
This article is brought to you by RELATIONSHIPS ADVICE.
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