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Newborns may benefit from fast genetic test
October 4th, 2012
12:58 PM ET

Newborns may benefit from fast genetic test

Genome sequencing is rapidly changing modern medicine, and a new study shows its potential impact on seriously ill newborn babies.

New research published in the journal Science Translational Medicine this week makes the case for a two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU).

After 50 hours, the test delivers to doctors a wealth of information about what could be causing newborns’ life-threatening illnesses. This would allow them to more efficiently and quickly tailor therapies to the babies, when possible, and identify problematic genetic variants that multiple family members may share.

“We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine that’s influenced by genomes,” said Stephen Kingsmore, the study's senior author and director for the Center for Pediatric Genomic Medicine at Children’s Mercy Hospitals and Clinics in Kansas City, Missouri, at a press conference Tuesday.

There are more than 3,500 diseases caused by a mutation in a single gene, Kingsmore said, and only about 500 have treatments. About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit, he said. Genetic-driven illnesses are a leading cause of these admissions at Kingsmore’s hospital.

One example of how a genetic test would help newborns is a condition called severe Pompe disease, Kingsmore said. Children with this disorder die if they are not treated by age 1. They will live longer, at least four years, if they receive an enzyme replacement therapy.

The study shows how two software programs, called SAGA and RUNE, work together to help physicians pinpoint the genes that could be causing problems in the children. A company called Illumina developed a rapid genome sequencing device that incorporates the programs.

Researchers reported diagnoses as a result of this genetic test in the study for six children. Two of these tests were done retrospectively, after the children had died.

The test extends beyond the ill baby; genome sequencing can also identify genetic traits in multiple family members, the researchers said. Carol Saunders, the study's lead author, explained at the news conference how one baby and his 6-year-old brother both have a congenital heart defect and heterotaxy, meaning some internal organs are located on the wrong side of the body.

While some children will still die from incurable genetic disorders after being tested for them, the knowledge about diagnosis and likely outcomes for future children is beneficial for parents, experts say.

“Knowing the marker or defect may provide some information regarding the prognosis so the family knows what to expect,” Saunders said. "Importantly, it also allows them to have accurate genetic counseling regarding their risk to have another affected baby, and to make informed decisions about their reproductive future.”

Families value the diagnoses derived from this genetic test because it gives an answer, and alleviates guilt that something happened during pregnancy, Kingsmore said in an e-mail.

“It gives time for maternal bonding and saying goodbyes and last rites that can be planned,” Kingsmore said. “This is all complex but very real.”

The test costs roughly $13,500, but costs of whole-genome sequencing are quickly falling – experts believe a $1,000 genome sequence is not far off, Kingsmore said.

Children’s Mercy Hospital plans to offer this testing before the end of the year. Next year, Kingsmore and colleagues plans to offer testing at other hospitals for NICU patients.

Kingsmore estimates that about 5,000 babies a year could benefit from this technology.

“Ultimately, it will be used for every child with an illness that may be due to a genetic disease,” he said.

It made sense to start with the NICU because of the costs involved, he said.

More from CNN Health: Baby's DNA constructed before birth


soundoff (11 Responses)
  1. Raphael Nora

    I'm sorry, but this one doesn't pass the sniff test. Sounds like Pre-Existing Condition HELL to me.

    October 4, 2012 at 13:45 | Report abuse | Reply
  2. mike

    So the vision is to add roughly $1,000 (currently $13,500) to the cost of EVERY birth in the country for the possible benefit of 5000 total babies? And we wonder why healthcare in the US is so expensive...

    October 4, 2012 at 23:15 | Report abuse | Reply
    • Nelly

      just read it carefully – babies in NICU (neonatal intensive care units) – most newborns are healthy and never in NICU

      October 4, 2012 at 23:48 | Report abuse |
  3. Atul Chaudhary

    Can you tell if the child is going to be gay/lesbian?

    October 4, 2012 at 23:48 | Report abuse | Reply
  4. Krystal

    I think this is a great initiative. I have a child that was diagnosed with the severe form of Pompe Disease (as mentioned in the story) at 6.5 months of age. While this test would not have benefitted her since she was not in the NICU, it could possibly help many children get an earlier diagnosis and better outcome. I think the best way at this time would be to require newborn screening for these diseases (in every state!), but maybe this genome testing will detect other diseases not detectable on the newborn screenings.

    October 5, 2012 at 09:08 | Report abuse | Reply
  5. Unrefined

    "About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit"

    Uh...why, in a first world country, are we seeing this number? I find it absolutely alarming that we're not birthing healthy offspring.

    October 5, 2012 at 17:11 | Report abuse | Reply
  6. kebkeb

    "Children with this disorder die if they are not treated by age 1. They will live longer, at least four years, if they receive an enzyme replacement therapy." So, if they find something, and the parents decide against treatment, does Children's Services take custody of the child for the 4 years they are with us? Hey, that would be great, then the researchers wouldn't have to deal with a "parent" if they wanted to do experiments on the child! You know, all in the name of helping "future" children. RIGHT!

    October 5, 2012 at 19:05 | Report abuse | Reply
  7. Nicholas Demers

    I may have discovered where my own illness Cyclic Vomiting Syndrome originates. With that theory it puts hundreds of other diseases and syndromes into question of origin due to no medical specialist in this field. Body temperature, doctors are all taught the same things about this, usually what the weather or elements can do to the body, NOT WHAT OUR OWN BODY DOES TO ITSELF. Studies show that a human with a normal body temperature will produce the necessary enzymes to produce healthy life function. A body temp with a plus or minus just .5 degrees F is enough to start throwing your enzyme levels out of whack. Thermoregulation is one area of science that needs medical attention. Currently the best answer I will get on this subject is a marine biologist. They have the most current data seeing how they work so close with mammals. The marine life tends to stay in the same temperature of water year round, regulating its temperature as it migrates. This is why a marine biologist has the best information right now. We can easily collect the information on humans, but at what cost? Medical professionals need to examine this further, so I am sending it out for review right away.

    This is what Medical Doctors currently know: Symptoms.... No causes.

    Hot-Effects 37 °C (99 °F) – Normal body temperature (which varies between about 36.12–37.5 °C (97–100 °F))

    38 °C (100 °F) – Sweating, feeling very uncomfortable, slightly hungry.

    39 °C (102 °F) – Severe sweating, flushed and very red. Fast heart rate and breathlessness. There may be exhaustion accompanying this. Children and people with epilepsy may be very likely to get convulsions at this point.

    40 °C (104 °F) – Fainting, dehydration, weakness, vomiting, headache and dizziness may occur as well as profuse sweating. Starts to be life- threatening. 41 °C (106 °F) – (Medical emergency) – Fainting, vomiting, severe headache, dizziness, confusion, hallucinations, delirium and drowsiness can occur. There may also be palpitations and breathlessness.

    42 °C (108 °F) – Subject may turn pale or remain flushed and red. They may become comatose, be in severe delirium, vomiting, and convulsions can occur. Blood pressure may be high or low and heart rate will be very fast.

    43 °C (109 °F) – Normally death, or there may be serious brain damage, continuous convulsions and shock. Cardio-respiratory collapse will likely occur. 44 °C (111 °F) or more – Almost certainly death will occur; however, patients have been known to survive up to 46.5 °C (115.7 °F)

    Cold- Effects37 °C (99 °F) – Normal body temperature (which varies between about 36–37.5 °C (97–100 °F))

    36 °C (97 °F) – Mild to moderate shivering (body temperature may drop this low during sleep). May be a normal body temperature.

    35 °C (95 °F) – (Hypothermia) is less than 35 °C (95 °F) – Intense shivering, numbness and bluish/grayness of the skin. There is the possibility of heart irritability.

    34 °C (93 °F) – Severe shivering, loss of movement of fingers, blueness and confusion. Some behavioral changes may take place.

    33 °C (91 °F) – Moderate to severe confusion, sleepiness, depressed reflexes, progressive loss of shivering, slow heart beat, shallow breathing. Shivering may stop. Subject may be unresponsive to certain stimuli.

    32 °C (90 °F) – (Medical emergency) Hallucinations, delirium, complete confusion, extreme sleepiness that is progressively becoming comatose. Shivering is absent (subject may even think they are hot). Reflex may be absent or very slight.

    31 °C (88 °F) – Comatose, very rarely conscious. No or slight reflexes. Very shallow breathing and slow heart rate. Possibility of serious heart rhythm problems.

    28 °C (82 °F) – Severe heart rhythm disturbances are likely and breathing may stop at any time. Patient may appear to be dead.

    24–26 °C (75–79 °F) or less – Death

    In the list above they think this is the reactions we have when we are at these temperatures, but not what damage it can do at a small change in the "normal range". They also only use the core temperature for these detections: Fever, Hyperthermia, Hypothermia, Basal body temperature and Core temperature. To my knowledge there is nothing else they use this information for when they take our vitals. We now know there is more to our blood pressure like Heart attacks, Hypotension and Hypertension. Our body weight for accurate BMI, detect rapid weight loss, diabetes, stroke, some cancers and others. To think that our body temperature doesn’t “cause problems” instead of just telling us “symptoms” like the other vitals, seems unimaginable now that I have opened the door. Think of how many syndromes will become diseases. They will finally know where they come from. Having a high or low body temperature without proper regulation can have adverse effects. Until more testing, my hands are tied. You have an entire new area of medicine to work and study from, if my theory becomes theorem. Medical discoveries can be made all over again, because you looked at the same problem with different eyes.

    The last piece to our vitals, the core temperature, they assume this will tell them “symptoms” not “causes.” They are just parts of the pieces that tells the story. They neglect the core temperature, and the long term effects of this, being high or low.

    Let me be clear, this is just like DNA, you can’t diagnosis someone off their core temperature alone, just like you can’t diagnosis someone for a mutated gene. It would be statistics. You would be more or less likely to get a certain illness, and be able to take the steps towards prevention. It would be the same as any other works of the medical field where people test to back up their assumptions. Cyclic Vomiting Syndrome (CVS) just so happens to be so unique that it allowed me time to really look at what happened to me.

    With this post I am going public with my theory. With theories you don’t need to be proven right, you need to proven wrong, otherwise this is my theorem.

    By, Nicholas S. Demers

    September 23, 2012

    I have little references for you to connect the dots as I put this puzzle together myself. So the only thing I can link for reference is http://en.wikipedia.org/wiki/Thermoregulation and my own video I made back in 2009 http://www.youtube.com/watch?v=S8AoNszDgEM&feature=plcp

    Update to CVS theory and other syndromes origins,

    By Nicholas S. Demers

    September 25, 2012

    I feel as though I left this incomplete for you. I am an inventor, not a doctor. I see the moving parts of the body and I can separate the pieces. What I must make clear is I suggest it is also the mothers womb, mothers core temp, and fetus temp until birth matters when this human life comes into existence. This is EVOLUTION right here. Body temp guiding the nutrients, and the dosages which alter at a mitochondrial level. This is the mutation, and supersedes “the mutation phase”. Right here is where Darwin’s theory of natural selection happens. If the proper enzymes are not getting to the hypothalamus, then the core temp of the fetus will have adverse defects over time. Core temp matters all the time, and never stops counting! Just apply this to getting pregnant... The woman needs a certain body temp to conceive. Equally important is the man’s body temp, but more importantly, his testicular temp needs to be at a certain level to make a conceivable amount of sperm.

    This is a tool I am giving to the medical community. I am telling them that they actually have a spot to look at to give parent’s better odds of what their child might, or might have in the future. But also work on prevention before the fetus turns into a baby. I believe you can control the whole pregnancy with the right research here, and prevent hundreds of “syndromes” from ever even forming. Before the fetus ever has a heartbeat, you need to already be working on the core temp of the womb for the consistency of the right enzyme levels in order to effectively produce.

    This find is the future of prevention in medicine. This is the next chapter.

    You need a table to work with, and build a system using the “golden standard”. Adults will be reluctant with out proof, if you want to be 100% accurate use infants. With my findings, 17 CVS patients average lower temps of 96-97’s. Only 1 child has a average of 98.4-98.6, and the mother claims that her child raises a degree when in an attack. This young female also might have Gastroparesis. I have all my information from people here: https://www.facebook.com/groups/25359810136/ This is a Cyclic Vomiting group where people openly exchange their stories. I am co-admin of the group. I did not start it, but because of my activity and knowledge of the subject, I have been allowed to be. Everyday I have heard these stories just like a specialist of Cyclic Vomiting Syndrome. Having this for 10 years gives me a unique understanding of my fellow patients. I have heard hundreds of stories, equal to that of a specialist that’s work is only consistent with CVS. With that combined, 300+ experiences of my own at the emergency room. I never had a satisfactory cause for CVS, and I have worked tirelessly for this answer. This is "plausible" period.

    Theory Update By, Nicholas S. Demers

    September 25, 2012

    This seemed like the perfect place for me to let me drop my theory. I can not do anything with it, but I know doctors are looking at the problem like doctors not inventors and that allowed me to see this. This is a "plausible" explination, I just want the world to look.

    October 5, 2012 at 23:08 | Report abuse | Reply
  8. Nicholas Demers

    Now that I have posted my theory, please I am open to any discussion on the topic. I am not a medical professional, just a professional patient.

    October 5, 2012 at 23:56 | Report abuse | Reply
  9. Ethics Board

    '“We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine that’s influenced by genomes,”'

    This person clearly doesn't practice medicine, he just looks at microarrays all day. There are very few therapies that are available for genetic defects that would otherwise be terminal. And to say that there are 3500 diseases caused by gene defects when there are 20,000 proteins enocded by an even greater number of genes just goes to show that we don't know anything. While I don't have a problem with this kind of technology, to say is to going to benefit babies is a total misnomer. All it does it give people a gene number why their child is sick, but nothing more. The chance of providing a benefit probably centuries away, if ever.

    October 26, 2012 at 17:09 | Report abuse | Reply
  10. Chris Tegeler

    I really love this because I see myself having a family and two children with having a thing that affects the brain.

    November 16, 2012 at 18:21 | Report abuse | Reply

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