Next week I will be taking part in a meeting on newborn screening. Duchenne is a candidate for screening. I would be thankful for your opinions about newborn screening. Please do not think I am asking you to say anything about your son or to retrace your steps. I’m asking about going forward. What are your thoughts? Concerns? If you were having a baby, would you agree to newborn screening? Would you want to know? Why?

To review:

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth. Many of these are metabolic disorders, often called "inborn errors of metabolism," which interfere with the body's use of nutrients to maintain healthy tissues and produce energy. Other disorders that may be detected through screening include problems with hormones) or the blood.

With a simple blood test, doctors can often tell whether newborns have certain conditions that could eventually cause problems. Most states, the District of Columbia, Puerto Rico, and the U.S. Virgin Islands now have their own mandatory newborn screening programs (in some states, such as Wyoming and Maryland, the screening is not mandatory).

Because the federal government has set no national standard, screening requirements vary from state to state, as determined by individual state public health departments. As a result, the comprehensiveness of these programs varies, with states routinely screening for anywhere from four to 30 disorders. The average state program tests from four to ten disorders.

State requirements tend to change periodically as well. In fact, the pace of change is speeding up, thanks to the development of a new screening technique known as tandem mass spectrometry (often abbreviated as MS/MS). This technology can detect the blood components that are elevated in certain disorders, and is capable of screening for more than 20 inherited metabolic disorders with a single test.

About half of the states are offering expanded screening with tandem mass spectrometry on every baby. However, there's some controversy over whether the new technology has been tested adequately. Also, some experts want more evidence that early detection of every disease tested for, will actually offer babies some long-term benefit. Equally important, parents may not want to know ahead of time that their child will develop a serious condition when there are no medical treatments or dietary changes that can improve the outcome. And some questions about who will pay (states, insurance companies, or parents) for the newer technology have yet to be resolved.

The American Academy of Pediatrics (AAP) and the federal government's Health Resources and Services Administration convened a task force of experts to grapple with these issues and recommend next steps. Their report identified some flaws and inconsistencies in the current state-driven screening system and proposed the following:

* All state screening programs should reflect current technology.
* All states should test for the same disorders.
* Parents should be informed about screening procedures and have the right to refuse screening, as well as the right to keep the results private and confidential.
* Parents should be informed about the benefits and risks associated with newborn screening.

All of this can be a little confusing and frightening for a new parent. The inconsistencies among state requirements mean that there's no clear consensus on what's really necessary. On the one hand, it's important to keep in mind that the disorders being screened for are rare. On the other hand, no parent wants to take any unnecessary chances with the quality of his or her child's life - no matter how small the risk.

States and hospitals determine what to screen for based on weighing the costs against the benefits. "Cost" considerations include:

* the risk of false positive results (and the unnecessary anxiety they cause)
* the availability of treatments proven to help the condition
* financial costs

While newborn screening varies by state and is subject to change, especially given advancements in technology. The disorders listed below are typically included in newborn screening programs and are listed in order from the most common (all states screen the first two) to the least common.

PKU
congenital hypothyroidism
galactosemia
sickle cell disease
biotinidase deficiency
congenital adrenal hyperplasia
maple syrup urine disease (MSUD)
homocystinuria
tyrosinemia
cystic fibrosis
toxoplasmosis

Should Duchenne muscular dystrophy be added to this list?

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Comment by Robyn Hoffman on March 30, 2009 at 10:42am
I believe that new born screening is a vital group of devices which would be paramount with newborn wellness and overall mortality. Curtis was diagnosised at 13month only from my vigilance as a nurse. I had no known family history. The earlier treatments and orthotic approaches are considered the better for our sons quality of life. It also enhances the overall emotional support networks that are so needed in these early stages of the grieving process. Knowing sooner doesn't change the facts....
Comment by Mia on March 30, 2009 at 10:09am
Our personal decision to test our son was to wait until he showed symptoms which he did at 21/2 years old. If there were treatment/intervention options to help our children at that age then maybe I would have thought differently. I am curious to know if carrier testing has become more accurate. When I went through my genetic testing in hopes to prevent having a child with DMD, John Hopkins, UCONN, and Baylor were all 94% sure I was not a carrier. After my son was diagnosed the Neurologist informed us that they don't see the deletion in the gene in 30% of carriers. And of all the females in my family tested I don't believe any showed up carriers but I do have a cousin with a son with DMD.
Comment by Andrea Gapko on March 28, 2009 at 7:08pm
I think newborn screening should be an option for parents, not a requirement. When we were expecting our surprise second child, we had an ultrasound because I had some premature bleeding due to a low-lying placenta. We wanted to know the sex of the baby, so the ultrasound technician told us he thought it was a boy. From the looks on our faces, he realized this was not the news we wanted to hear and started to apologize for telling, saying he shouldn't have, etc. We reassured him, that though we were disappointed, we were glad to know. I was able to be upset, depressed, etc. and still have time to "get over it" before he was born. I was certain from that point on that he had DMD, but was able to assimilate that idea without confirmation testing until he was 13 months old. That gave us time to prepare for his birth, get life insurance in order, etc. When he tested positive at 13 months, it was the genetic associate who told us who had the most trouble, was near tears, etc., while we just said, "We thought so." We then proceeded to live with him and his 6-year-old brother as "normal" a life as possible and dealt with things as they came up. They went to camp, joined Boy Scouts, sang in the choir, etc. as they grew up. They got wheelchairs when needed, AFOS, prednisone, etc. Knowing early would give people time to alter their home or buy a different one, decide what kind of vehicle to buy, do the research on steroids long before needing to decide to use them, etc. I'm always in favor of the most information possible as soon as possible. Others would want/need to wait. I no problem bonding with the second child, would say it was just as easy or easier than with the first child. We didn't learn of the first's diagnosis until he was 3, although we expected it about 18 months, as I had a brother with DMD (and was told I wasn't a carrier, when the testing wasn't so good). If it's to be a mandatory test, then I'd say 6 month or a year would be sufficient. A lot depends on who will pay, how much it will cost, and what parents believe they need to know or can cope with. Keep up your great work, Pat!
Comment by donna on March 27, 2009 at 2:22pm
Until there is a treatment available i see no reason for this.
Comment by jennifer renshaw on March 27, 2009 at 12:28pm
I believe that as treatments become available early diagnosis will be key. I wanted to know, and would want to know asap. Personal chioce should be respected, but the screening should be an option.
Comment by Jeff Sobel on March 25, 2009 at 12:46pm
Just remember that this will make it impossible to get individual health insurance in most states (NY is one of the few exceptions). If a family has to switch to the individual insurance market or change to a different insurer during the first few years of life, the child will be uninsurable. Until we get rid of medical underwriting in the individual insurance market (non-group coverage), newborn screening and diagnosis will lead some people to be unable to get private insurance.
Comment by Paul Cliff on March 23, 2009 at 5:17pm
Now, when there might be treatments available for these children in a few years, it would seem best to know sooner than later. For this babies born from now forward, there will probably be medications available in the next 3-5 years that could radically slow the disease progression and it would be a shame to delay administration of that medication until the symptoms were present. I don't see how waiting a few months or even a year or two after birth could hurt right now, but as the medicine advances, even that period could be too long of a wait.
Comment by Susan Rathfelder on March 22, 2009 at 7:18pm
I posted a response to this earlier and now I have a question: What would actually be tested in Newborn Screening? CK levels or DNA. I ask because I have no family history and my son has had 2 DNA tests and they have not been able to detect/identify any mutation or deletion and my understanding is that there is a possibility that they may not be able to find his since the dystrophin gene is so large. So testing his DNA at birth would not have given a result for MD. So that would fall under the false negative result and a false sense of peace. Of course if they test CK levels that would just be the beginning of more testing to find out why. It seems that there is still a long way to go and a lot to consider before going ahead with this on a large scale.

Just my two cents worth,
Susan
Comment by Deb Robins on March 22, 2009 at 7:13am
Bit of a tangent but...DMD is mentioned in this blog about genetic screening . Interestingly it refers to the editor of New Scientist recent view that all parents-to-be should be offered carrier testing. The ethical emphasis has shifted to an earlier point in time, a time when there is no baby at all - no ethical problem at all. I think this is very cool because IVF can be used if carriers of any serious disease are identified. As a society we have the power to prevent a great deal of suffering and we are not harnessing it. So rather than waiting until the babies are born - why not simply offer to test all people who make the decision to start a family? Trouble is there's a lot more spontaneous cases nowadays for DMD at least since people are more open about family history. The article also touches on embryonic screening,which does polarize people. It got me thinking are we debating about this when the horse has already bolted just because the heel testing of newborns is established/accepted - maybe we should be thinking outside the square and leading the way for all genetic diseases in the process?

http://scienceblogs.com/geneticfuture/2009/03/allowing_children_to_be_born_w.php?utm_source=sbhomepage&utm_medium=link&utm_content=channellink
Comment by Lori Ware on March 20, 2009 at 11:21am
I have often wondered about this and truly don't know where I fall. I am a very determined mom. Seph was my 3rd and last child, so I knew what milestones to expect; so when they didn't come, I kicked into action without the blessing of my husband and/or the pediatrician. We have been in PT since Seph was 15mths old and not walking. I really attribute this in part to how well he is doing today at age 7. All of that being said, I really do treasure the 3 years of ignorant bliss, but I have to ask, were they that ignorant..after all, I was seeking a diagnosis!
Anyway, I know that there are many parents (current company obviously excluded) who just go with the flow and don't take action and don't 'see' what others may see. Denial (or stupid docs telling them nothing is wrong?...probably a mixture)? Who knows, but these kids aren't getting any proactive care that they MAY be getting if they had the Dx early on. I think I fall on the side of yes, newborn screening is good...BUT, I completely agree that it has to be done with someone who KNOWS something about DMD if that diagnosis comes back. And unfortunately where I live, that is NO ONE!!! 3 peds that I have seen, 1 neurologist (MDA doc) and many nurses have all told me that basically they dont' know anything about DMD. So, how does a newly Dx family get good information would be my biggest concern.
Thanks for including us in this discussion Pat!

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