Newborn Screenings Now Required Across U.S.

[Medstudent2010]

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Newborn Screenings Now Required Across U.S.

I know about the Apgar score to measure the health of new borns but I didn't know or realize how wide spread screening was. I have no problem with screening newborns as long as there are strong ethical guideless about the use of that information. This type of screening should have a huge impact on most pedatric specialties. In my mind this type of screening is most useful for preventation, but even in conditions that are untreatable it at least allow for some planning. Of course this depends on ensuring that the imformation from these test remain personal and not for sale.
I am curious as what guys think about this and the impact it has on your day to day practice.

As mentioned in the article it may allow for the more resources to be use to treat infents for conditions they may develop later on. So I am also curious about the impact on Neonatology.

http://www.forbes.com/feeds/hscout/2009/02/18/hscout624215.html

Newborn Screenings Now Required Across U.S.

02.17.09, 08:00 PM EST
All states mandate at least 21 tests for devastating conditions, report says
WEDNESDAY, Feb. 18 (HealthDay News) -- Four years ago, only about one in three babies in the United States was born in a state that required newborn to be screened for a host of conditions. But by the end of 2008, all 50 states and the District of Columbia had either laws or rules requiring newborn screening for at least 21 disorders, a new report finds.
"The states have really made outstanding progress in expanding newborn screening programs," said Jennifer Howse, president of the March of Dimes, which issued the report Wednesday.

The panel of tests checks for genetic, metabolic, hormonal and functional disorders, according to the organization. Many of the disorders cause no visible symptoms in a baby until after damage, often permanent, is done. Some of the disorders lead to mental ******ation, and others end in death.

The first test that was made available was for phenylketonuria (PKU), a condition in which the body can't process part of a protein called phenylalanine. The disorder affects about one child in every 25,000 born in the United States, according to the March of Dimes. Left untreated, phenylalanine accumulates in the body and can cause serious brain damage and mental ******ation. Changes in diet can prevent these problems from occurring, but the diet must be started soon after birth and followed for the rest of the child's life to prevent brain damage.

Another disorder now tested for is congenital hypothyroidism, which affects an estimated one in 5,000 U.S. babies. Replacement thyroid hormone is considered a simple and effective treatment for the disorder. But without a newborn screening test, treatment might not begin until the lack of thyroid hormone causes brain and growth ******ation.

"Any time you can proactively identify a problem and treat it, you can avoid a lot of complications and lifelong consequences," said Dr. Jamie Grifo, a professor of obstetrics and gynecology at New York University Langone Medical Center in New York City. "Hopefully, we'll have a national standard on newborn screening that will benefit all children."
Howse said the March of Dimes continues to work toward that goal. As of last year, about half of all states tested newborns for all 29 conditions recommended by the American College of Medical Genetics. "We're going to remain in watchdog status and keep moving to close the gap," she said. "We're also going to pay close attention to make sure we keep the gains intact in this tough economy."

The March of Dimes estimates that about 4,000 babies with metabolic disorders were discovered via newborn screening in 2004, and another 12,000 were found to have a hearing impairment.

"Hearing problems are a more frequent occurrence, and it's important to catch when children are newborns," Howse said.

A complete newborn screening that tests for all 29 conditions costs about $100, according to Howse, and is covered by most insurance companies.
"What's more expensive is if the conditions are missed and kids need catastrophic care," she said. "And the human consequences are tragic."
Dr. Jerry Vockley, director of genetics at Children's Hospital of Pittsburgh, said that he can recall one devastating case from the pre-screening era in which a child had one of the disorders that's now tested for and ended up in intensive care for several months. He said the cost was between $500,000 and $1 million.

"It doesn't take too many of those kids to win back the cost of the entire screening program," Vockley said. "It's very cost-effective."

Vockley said he's glad for the state mandates because they might make it easier to garner resources to treat infants, but he pointed out that a lot of hospitals were doing the screening tests long before they became required by their state.

Howse recommended that expectant parents check with their doctor to find out what screening tests are done in the hospital and, if the testing doesn't cover all 29 conditions, that parents arrange to have the additional tests done.

 

[BigRedBeta]

I think most of us will say that this is very important.

For one, the most common tests are ones that are treatable with early interventio. With proper treatment these kids end up being normal kids. I don't think you can put a price on that for them or their parents. In cases like Sickle Cell, identification leads to enough preventative health measures that you can do a lot to keep these kids up with their peers. They start seeing the hematologists early, get the proper immunizations and the follow up care leads to better outcomes.

Second, identification does help them get access to available services if they need them. Many school districts, at least in larger communities begin to provide support services as early as age 3 for children within their boundaries. Again, early intervention can make a huge difference. These programs are already in place, so it's not like there's extra costs associated.

Third, I guess I'm not sure where you're concerns about ethical guidelines come into play exactly. Ethics are always important, but I'm not sure where these differ from any other diagnosis. Where is your concern about test results being "for sale" coming from?

Fourth, it absolutely does matter to many subspecialties, as these children need very specific management strategies. This is a great example where having a medical home can make a huge difference. Having one physician who is very familiar with the child and family and can coordinate care plans is important. In regards to Neonatology, I'm sure that several posters in this forum can explain this better than I can, but the key points are that Neonatologists may frequently be the ones who are faced with the immediate changes in treatment plans for these kiddos, and they also have to be the ones to provide support (along with the geneticists and genetic counselors) to the family to help them make sense of what the diagnosis means. I'd imagine that the neonatologists, just like the geneticists, peds intensivists and peds oncologists, will tell you that fully understand their responsibilities to help families cope, and that this responsibility (really a job requirement) is almost as important as the care they provide for the child.

 

[Medstudent2010]

I guess the “sales” comment was little extreme in that some may fear that the certain information like genetic markers to Alzheimer or for certain cancers might lead to discrimination by insurance or employment. Like I say this is an extreme example this doubt it will happen.

Your right about the medical home model! I didn't even think of that.

Another that thing that interests me is that the testing is so widespread it should prove to be a blessing for the fields of public health and epidemiology.

I have only have only been accepted to medical school recently so I may not see the impact of new discovers for 4 or even 7 years from now but I am excited about future of pediatrics. 🙂

 

[umass rower]

I guess the "sales" comment was little extreme in that some may fear that the certain information like genetic markers to Alzheimer or for certain cancers might lead to discrimination by insurance or employment. Like I say this is an extreme example this doubt it will happen.

Predispositions to cancers, Alzheimer's, or other such things are not done in newborn screens. Aside from the fact that many of these diseases are multifactorial in their genetic origin, with gaping holes in our knowledge of what causes them, the cost to do a legitimate genetic screen would run in the thousands of dollars, and be prohibitively expensive to do on a broad scale. Even though many states apparently didn't mandate newborn screens until now, my suspicion is that nearly all children were getting them the last few years anyway. I'm pretty sure that even if it wasn't a state or federal mandate, most hospitals considered it part of their newborn routine.

The diseases in the newborn screen are all diseases with drastically superior outcomes when detected and treated/managed early. The screen is cheap and accurate. There really are very few ethical concerns with the testing, (the CF test is the only one I hear complaints about, and half of the issue there is a technical one) and as far as I'm concerned there are really no legitimate reasons not to get the screen done.

I have only have only been accepted to medical school recently so I may not see the impact of new discovers for 4 or even 7 years from now but I am excited about future of pediatrics. 🙂

New discoveries? The future is NOW! And congratulations on your acceptance.

 

[Stitch]

Predispositions to cancers, Alzheimer's, or other such things are not done in newborn screens. Aside from the fact that many of these diseases are multifactorial in their genetic origin, with gaping holes in our knowledge of what causes them, the cost to do a legitimate genetic screen would run in the thousands of dollars, and be prohibitively expensive to do on a broad scale. Even though many states apparently didn't mandate newborn screens until now, my suspicion is that nearly all children were getting them the last few years anyway. I'm pretty sure that even if it wasn't a state or federal mandate, most hospitals considered it part of their newborn routine.

The diseases in the newborn screen are all diseases with drastically superior outcomes when detected and treated/managed early. The screen is cheap and accurate. There really are very few ethical concerns with the testing, (the CF test is the only one I hear complaints about, and half of the issue there is a technical one) and as far as I'm concerned there are really no legitimate reasons not to get the screen done.


New discoveries? The future is NOW! And congratulations on your acceptance.

That about says it. The nice thing about making it a federal mandate is that the tests will be paid for. As is, insurance companies would rather pay for the years and years of specialized care and illness than a simple test to screen and prevent those long term complications. Now a simple card just gets sent to a state lab after delivery and two weeks later the primary care doc will get a notice or letter if anything comes back positive.

Oddly I had a crazy set of religious parents refuse the test, saying that it was "God's will" if the child had one of these diseases.