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Newborn Screening Update · Pediatrics Now: Cases Updates and Discussions for the Busy Pediatric Practitioner

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  I'm Holly Wehmint, and this is Pediatrics Now, brought to you by UT Health San
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  Antonio and University Health's new Women's and Children's Hospital.
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  Today, I'm joined by Dr. Alice Gong to talk about the updated newborn screening guidelines.
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  Dr. Gong, thank you so much for being here today in the podcast studio and back on the show.
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  Oh, thank you. And we'll have Alice Gong's bio in the text here.
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  It's so impressive. You have so much experience.
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  And you've helped so many babies and children. I'm just so honored that you're
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  here in the podcast studio today.
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  It's always an honor to be with you, Holly.
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  Can you tell us a little bit of background, Alice, about newborn screening?
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  Sure. Newborn screening is a very successful public health program.
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  I have to say it's a program because it's not just about some blood tests.
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  There's a lot to it. It all started in about 60 years ago when Texas approved
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  that the PKU tests be done on our newborns.
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  So PKU is what a lot of people call newborn screening.
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  Although today we have over 60 tests, so it's not just one test, it's multiple tests.
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  But PKU was what started it. So PKU is a condition where kids,
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  their nervous system continues to deteriorate because they have too much phenylalanine
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  because they don't have the enzymes to process it.
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  And with extra phenylalanine in their system, it just deteriorates their brain.
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  A lot of those children ended up in institutions and dying early.
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  And Dr. Guthrie, in kind of the 60s, realized that presence of phenylalanine
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  in the blood can inhibit bacterial growth.
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  So the first test was the blood was collected on filter paper because they could
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  take a little piece of that, a little disc from the filter paper,
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  put it onto petri dishes with bacteria.
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  And if they find a song of inhibition, that's the kit they would test for PKU.
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  And it was highly successful because children that had PKU were picked up before
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  anything happened. They were put on low-protein diets, and they became normal people.
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  So it was so successful, and it has totally expanded today.
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  In fact, in 2025, we just added the lysosomal storage diseases to take us up
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  to 59 blood tests. We'll be adding one more when the lab can get it in.
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  It's called GAMP, and I can go over that a little bit, but it's a very rare amino acid disorder.
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  But the beauty of GAMP is that what happens is that they are missing an enzyme
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  to give them creatinine, and all you have to do is give them creatine,
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  and then they're normal.
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  So it's a great test. So the tenets of newborn screening was to find a condition
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  in the newborn before they have symptoms and that you have therapy that you
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  can give them to keep them from having either death or lifelong mental health issues,
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  actually neurological issues as well. That's amazing.
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  Amazing. Isn't it amazing? And every year in the U.S., about 20,000 kids a parent.
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  Because of newborn screening. Wow. So it is an amazing public health thing.
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  The tenets are that you should have something that you can do a test.
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  The test should be simple and easy to do, that you can do it on the whole population.
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  And then once you do the screen, you can do the follow-up test to give you a
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  diagnosis, and then you can get into treatment.
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  Although there are some people that are wanting to do more than that because
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  a lot of parents with children that have disorders that.
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  They had to go through a long diagnostic journey to find out what was wrong with their child.
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  These parents are saying, you could screen for my child's condition,
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  even though it's rare, but it would be very helpful.
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  And even if you don't have treatment, at least we know what we're dealing with.
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  So that's one theory that's coming into play about newborn screening.
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  It's all regulated in terms of what TESA done was done by an advisory committee
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  that was part of Health and Human Services.
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  That advisory committee vetted conditions and developed something called Recommended
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  Uniform Screening Panel, or the RUSP.
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  That committee has been disbanded out of Health and Human Services,
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  although we still have the Recommended Newborn Screening Panel.
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  And when we add GAMP to our testing, we would have done all of the recommended
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  newborn screenings for Texas.
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  Wow. That's just half of it. Wow.
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  That's in a nutshell. So in a nutshell, so what's the most important top thing
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  you want pediatricians to know?
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  Oh, Dawn. You know, when you know a lot about something, it's very hard to come up with one top thing.
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  Right. I think that to know that there are 59 blood tests right now,
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  which includes all your amino acids, organic acids, and fatty acids that were
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  added when we did expanded screening.
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  But in addition, we also screened for things like biotinidase deficiency,
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  cystic fibrosis, severe combined immune deficiency. The...
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  X-linked adrenal leukodystrophy, spinal muscular atrophy, as well as the four
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  lysosomal storage diseases that just came on board in August of this year.
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  And the spinal one you mentioned, is that the one where before symptoms wouldn't
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  show up until about third grade and the child's handwriting would go back?
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  Well, that's one of the SMAs.
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  So that's the one that is not as bad, but there are some very bad conditions
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  and they do start appearing pretty early in infancy.
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  So SMA is a very neat test that we do.
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  And when we find it and those kids can get treatment and the treatments are very expensive.
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  It is the very first time that we have gene therapy for a childhood condition was for SMA.
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  And once they get that, those kids can be normal.
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  Wow. So what is SMA? It's spinal muscular atrophy, and those kids end up with
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  not being able to sit up, not being able to walk.
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  Many of them end up on respirators because they can't breathe because their
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  motor neurons don't work. Okay.
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  There are some variants of it.
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  So in order, SMA, you have something called, you have a gene that makes a protein,
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  and then you have a backup gene.
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  Okay. Those are the SMN genes. And if you don't have the major one,
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  if you have enough of the backup one, you can be okay.
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  A lot of these kids only have very little of the backup gene,
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  and so they have to have therapy.
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  So the kids that maybe have problems later on, those are the ones that have
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  enough of the backup gene, and those are not the ones we're detecting right now.
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  And you're past president of the Texas Pediatric Society. So impressive.
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  But Texas recently started screening for a neurological disorder that before,
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  by the time symptoms showed up later in life, there was nothing that could be done.
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  And then now, if it's detected early, there's like, it's a one dose,
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  like million dollar. That's SMA.
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  It's just incredible. That's SMA. It's like a couple of million dollars.
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  It's gene therapy, and it does help them come up with enough genes to make that
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  protein that they need to make their nervous system work well.
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  And apparently it's covered by a lot of insurances?
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  Well, it's FDA approved. So it has to be covered.
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  Medicaid has to cover it because Medicaid has to cover anything that's FDA approved. It's incredible.
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  Yeah, I know. Wow. But when we were working on that, a lot of parents who had
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  children of SMA brought them to the newborn screening advisory committee so
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  we can see what they're like.
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  And we had a parent that brought their child, the first child,
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  who was on a ventilator and could barely move.
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  And then because they diagnosed him, they were able to diagnose the second child
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  and got her some therapy, not the same as the gene therapy.
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  But with what she got, she was able to, like, walk and breathe.
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  So, yeah, it's pretty amazing. And then having the gene therapy,
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  that's very amazing. There's actually three forms of therapy that's available.
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  The first one was something that
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  kind of helped make the gene work better instead of replacing the gene.
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  And then there's a new one that is given orally. So...
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  A lot of progress in that area. Wow. And it's great.
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  We're talking about this. There's so much to keep track of as a general pediatrician. How are you?
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  Yeah. How do you keep track of it all? Well, newborn screening in terms of the
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  blood tests, there are two point of care tests that I want to talk about also.
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  But the blood tests, the state lab has an amazing clinical coordination team.
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  So if you get notice of a condition, they will send you something called a fact
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  sheet and an act sheet, like an act sheet tells you what to do.
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  And you can, if you're not sure, you can always put it into your search engine
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  and those act sheets, which were developed by lots of geneticists,
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  will be there and they will tell you more about the condition,
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  what enzyme may be missing or what may be the problem and how you get to diagnosis
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  from that screen that was done and who to call.
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  I think that's the most important thing, right, because it's so hard.
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  There are very few genetic metabolic specialists in our state.
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  And so having phone numbers and being able to call them and say,
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  I have this, tell me what to do, that's available.
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  So and is it usually so the process, is it the pediatrician sends the doctor?
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  The order's in for the state test or it's required for every baby born?
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  It is mandated, so it is something that is opt-out.
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  You have to, it is done.
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  In the hospital? Every hospital, every delivery service.
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  Right after delivery? No, it's usually around 24 hours, 24 to 48 hours.
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  It's because of the cutoffs that we do for the test.
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  We have a specific time period. So Texas does two screens.
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  The first one is 24 to 48 hours. of birth, which is why a lot of babies stay at least 24 hours.
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  And it is a blood test and there's a poke on the heel with some blood drops
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  that are collected on the filter paper.
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  And then another one is 7 to 14 days.
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  And that is a form that you can either get from the hospital or you could get
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  it from your pediatrician to take to a lab to get it done.
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  And in our case here, it's PD Fast Lane is a place where they do a lot of testing, the UH facility?
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  I have seen people there.
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  I'm glad that those people, because, you know, the blood spot comes in a kit,
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  and there is a cost to it because that's the cost of doing the tests.
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  And it is currently around $60. It will go up in January to about $98 because
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  we've added four more tests, which took a lot to get to that point.
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  But it is quite a bargain to get almost 59 tests, soon to be 60,
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  that you can do off blood spots that gives you a lot of information.
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  Do you find some patients?
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  Parents opting out? Well, according to Texas law, the only way you can opt out
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  is if it's against your religion.
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  And so there are people that want to opt out.
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  I would tell you, we do have a video that was done by parents of children that
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  were picked up because of newborn screen.
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  And they would tell you they would never have wanted this for their child,
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  you know, but they were awfully glad they did because now they know what to
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  do with their children and how to take care of them and they can have a chance
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  at a good life and not have,
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  you know, a terrible neurological outcome or death, which those are bad things. Yes, it's incredible.
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  There's an article in the New York Times today about this med student.
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  It's amazing where she volunteered to have
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  an ultrasound done on her as a like how
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  you do where you simulate something and then
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  they found that this large kidney stone
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  was damaging some of her organs and so
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  but she would have never known that and so because she volunteered to have the
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  ultrasound she was able to be cured like it's incredible but for babies to have
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  this window into their health it's just amazing what else is important alice
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  for Well, there are a number of things actually.
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  The dry blood spots that were accumulated after the test, because there are
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  five dry blood spots and they don't always use all of them.
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  So they were kept for a long time until people said they didn't want that stuff to happen.
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  And because of that, there is a law in Texas and there should be a form with
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  each of the newborn tests that gives parents the opportunity to say,
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  yes, they want the blood spot kept.
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  And if they do, that blood spot is kept for 25 years, can be used for anything that is necessary.
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  So for instance, when a severe combined immune deficiency came on screening,
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  a lot of parents who lost their babies wanted to know if maybe that's what their
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  child had, but they were not able to do that because the blood spots were already destroyed.
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  So now, if the parents give permission, that blood spot would be kept for 25 years.
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  If they don't give permission, it is only kept for two years in case that we
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  need to go back and test that baby for something else that is available,
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  and then it's destroyed.
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  So parents have that right. It's a form that comes with the newborn screening
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  kit, and they can just do it right then and turn it in, and they will go to
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  the state, and they will have that information.
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  Or they can take the form home, decide about it and then send it in.
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  And because Texas has two screens.
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  Depending on what they do on the second screen, is what is done.
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  So if they say no the first time and they say yes the second time,
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  they will go ahead and keep the blood spots.
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  If they say vice versa, then they will destroy the blood spots.
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  So it is done. It is just all anything that they don't have a yes on.
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  So if no one sends anything in, it will still be destroyed at two years.
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  So that's one of the Texas things that requires permission.
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  Otherwise, the only other one that requires permission is the hearing screen,
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  which is also mandated by law.
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  And there is a refusal form if your religious tenets disagrees with doing that screen.
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  If you the hearing screen there is
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  a law that was passed that in order for us to
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  have that information about your baby's screen they have to give permission
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  now the screen will be done and we will collectively know that it's done parents
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  will have the information whether their baby passed or not so the hearing is
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  one thing because hearing is a very common birth issue that But if picked up early,
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  we can get, so we do a screen.
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  If the screen fails, then you want an audiologist to do the testing.
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  And if the testing shows the baby has either hard of hearing or deafness,
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  they can go on to intervention.
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  Intervention could be hearing aids. It could be, you know, maybe eventually
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  something like a cochlear implant.
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  But whatever the treatment is, kids who get into treatment early,
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  before six months, they have a normal life.
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  They're able to accomplish a lot. We know from the past that with hearing,
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  when we did not screen and they were picked up around 12 to 18 months that a
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  baby didn't hear, that those kids end up having a third grade reading level,
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  even at college level. Just because...
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  Being able to hear is a very important part of learning to read and developing that part of your brain.
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  Yes. So I'm going to talk about the other newborn screen that is done at point
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  of care that's critical congenital heart disease screening.
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  That is using a pulse oximeter, looking at pre and post ductal SATs. If those SATs are.
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  In the 80s, we can't see it with our eyes, but we can pick it up with the machines.
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  And that helps us look for congenital heart defects that need some intervention,
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  particularly the cyanotic ones or the ones where the one part of the heart's
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  not working well or that there's vascular issues.
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  So that's a very important screen that's done.
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  So that's usually done after 24 hours because you want to give the doctors some time to close.
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  That was changed recently that in the past you had to have, you could have either
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  above 95 in your arm or your leg.
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  Now you have to have both to pass, okay?
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  The other thing is in the past, if you were in a kind of a gray zone where your
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  SATs were above 90 but below 95, you would get it retested two times before we start looking.
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  Now you just go once. If one time, both times that those sats are still in that
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  gray zone, you would go ahead and get either tested to see what the problem is.
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  That may include like an echocardiogram to see that your heart is okay.
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  I mean, it could be, you know, a baby that's having respiratory distress.
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  It could be a number of things that can cause the baby to not have as much oxygen
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  in the blood as they should. and those things are evaluated.
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  So that's another change that happened recently.
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  Well, and talking about the hearing screening, my youngest daughter,
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  I remember thinking like, do I really need to take her for this?
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  And then there's so much going on when you have a newborn and stuff.
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  And then I was shocked when she didn't pass the hearing test.
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  It ended up not being, I mean, something we have to manage, but,
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  I was so grateful that it was almost, that it was required, that otherwise I
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  just wouldn't have known. And then it helped so much.
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  So we do know that like of the babies that do not pass that hearing screen.
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  One in four will have some deafness or hard of hearing.
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  So it's pretty, it is important to go see that audiologist.
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  And I know it's very hard. I mean, I've had kids and it's very hard when you're
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  just taking them home and you have to take them back to something.
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  But it is a very important thing because if we can pick up the deafness early,
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  because there's so much brain that develops that requires the baby to hear.
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  And if they're not hearing, they will miss out on a lot of brain development.
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  And with hers, it kept switching back and forth. She would pass on one side
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  and then not the next. And it ended up being eustachian tube dysfunction.
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  But knowing that so early on, it was a game changer. It made a huge difference.
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  Yeah, because even though it's not, like major part of her hearing,
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  just to fix that, allow her eustachian tube to work better, she can hear.
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  You know, because otherwise it's muffled sounds or not being able to, you know.
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  Locate sounds and stuff like that so that's so
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  important you know for the baby to hear mom you
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  know and look because when that baby looks when mom they hear mom it's an interchange
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  like mom gets oh my gosh she's looking for me it's a good feeling you know it
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  contributes to that bonding that goes on so if the baby's not if mom is make
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  you know talking to the baby and the baby's not responding.
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  It's like, oh, what's wrong with me? You know?
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  And then you're an expert in so many things, one of them being nurture science.
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  And you've worked closely with the Columbia Nurture Science Program at Columbia
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  University. And then our NICU at the Women's and Children's Hospital is one
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  of the first to be a nurture science NICU. Yes.
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  It's amazing. And we'll have to do an update soon about the healing power of nurture. Oh, yes.
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  Alice, what else do pediatricians need to know about this crucial topic?
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  In terms of the lysosomal storage disease, there is, I mean,
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  what we're looking for is Pompe's disease and MPS1 and 2.
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  But the most important one that we have to pay attention to is the infantile
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  onset Crabbe's disease, where the baby,
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  if they have something called the psychosine that is borderline or abnormal,
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  then we need to know within that first week of life.
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  Because they need to be referred to one of the referral centers.
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  And Texas has three that are called Crabbe referral centers.
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  We do have one here at Christus.
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  And the babies, if they can get
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  a stem cell transplant before they are a month old, they can be normal.
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  So this is a condition that leads to a nervous system that totally declines.
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  Those kids usually die pretty quickly. and by getting them into therapy, we can save their lives.
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  So that's a time-sensitive one of the lysosomal storage diseases.
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  Wow. Okay, do you want me to throw some questions at you?
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  What challenges do clinicians face when applying standard screening protocols
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  to critically ill or premature infants?
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  Okay, critically ill babies may need a blood transfusion, and so that does interfere
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  with some of the tests because one of the tests we do is hemoglobinopathies,
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  like the sickle cells and some of the thalassemias and so forth.
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  So obviously if you're putting blood in, it would change that.
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  So it's not to not do the test because you can still screen for some of the other things.
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  So you continue to do it at 24 to 48 hours, but you would need to do another
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  one like three months later after the last transfusion.
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  But premature babies are sometimes on things like TPN and stuff,
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  then that can interfere with some of the amino acids as well as it does because they're born preterm,
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  they don't have the same kind of hormonal responses that a term baby has.
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  So sometimes their thyroid and their congenital adrenal hypoplasia screens may be abnormal.
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  Usually what the state says is like, if the first one's abnormal,
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  wait for the second one, because if they're in the NICU, they'll still be there
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  at 7 to 14 days, and we would know.
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  And then we can do testing after if the second one is abnormal.
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  So, prematurity and sickness do interfere with some of the screens.
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  So like for a skid, a very premature baby may not have making this lymphocytes,
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  so they will pick up as abnormal, but it will normalize as they mature.
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  So those are some things just to know about as you're looking at the screens for those skids.
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  And one thing I think that's very important that I didn't know,
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  but I did find out, is that the state will do a newborn screen up to a year of age.
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  So if you have a child that is brought in from somewhere else that was not born
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  in Texas, you can go ahead and send the screen so you'll know where they are.
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  As long as you have the age and birth date and birth weight and their weight
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  and stuff like that, they can actually do the cutoffs and stuff to make it appropriate.
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  Okay, great. And then for our listeners elsewhere in the United States or in
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  the world, where you live, check the state guidelines that can constantly be changing.
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  There are federal guidelines and so forth, so the recommended newborn screening
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  panel is a federal thing, but every state and every territory has their own
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  rules as to what they screen for.
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  And the recommended uniform screening panel is a recommendation.
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  It's not to say that you have to do it, although the more we do,
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  the more we know, right? So, but money is important.
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  It is very expensive to set up the testing and so forth for this.
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  And so, I mean, I have to give a shout out for the Texas lab,
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  which is amazing, and to be able to do so many tests every year and give us good information.
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  So the state newborn screening program is amazing.
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  We have one of the best in the world. So, wow.
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  Yeah, I mean, I think that it is a very good public health program that states do.
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  And it does a huge service to the newborns.
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  Very well said. Alice, what should pediatricians know when receiving discharge
• 26:55
  summaries from the NICU regarding pending or repeated screens?
• 27:00
  Well, babies who've been with us for longer than two weeks will have both screens.
• 27:06
  And the results should be there because we have a link to the lab.
• 27:11
  So as soon as the tests are available, we get the results.
• 27:15
  Not everybody has that luxury of having those direct links.
• 27:20
  There is a website that you, if you don't have those two, that you can enroll
• 27:25
  in so that you can get results of your babies.
• 27:29
  So it's always good. I mean, I know it's part of the Texas Health Steps that
• 27:33
  you know the results of the newborn screens so that you know how to take care of your baby.
• 27:39
  So in terms of the discharge summaries, they should be, the tests should be there.
• 27:45
  If a baby just stays for like a few days, we may have done the screen for the
• 27:51
  first screen, but we may not have the results back.
• 27:54
  And that's something you can definitely call us because if we did it, we would have it.
• 27:59
  And then if they, and certainly if they go home before there are seven days,
• 28:02
  then you would have to get the second screen done.
• 28:05
  What are some common pitfalls, Alice, in communication between NICU teams,
• 28:10
  screening labs, and outpatient pediatric offices?
• 28:14
  Oh, so hard. Okay. There are a number of centers around the state that have
• 28:21
  that direct link to the state lab.
• 28:24
  They're developing some other things to allow for other places to have web access to get results.
• 28:33
  And if I was felt, you can set up your own web link to get the results.
• 28:39
  I think it's important to get the results. It always makes me feel better when
• 28:43
  I see them and they're normal.
• 28:45
  So to know, because it rules out so many things. Yes.
• 28:49
  And when you're doing a workup of a kid and you know what the results are,
• 28:55
  you know you don't have to do those things.
• 28:58
  I think the only exception I would say is that maybe the thyroid,
• 29:02
  because they do change, and also hearing, because hearing loss can develop with time.
• 29:09
  And so babies may pass the screen, but they can still develop hearing issues.
• 29:16
  And vice versa. They cannot pass it in it, or it's not as serious. That's true.
• 29:21
  They cannot pass it because three out of the four that don't pass it will be
• 29:25
  able, will have a normal hearing test.
• 29:28
  So, but, you know, that's testing a small group of kids having,
• 29:33
  you know, having an audiologist test them as opposed to everybody.
• 29:38
  Alice, how can community pediatricians advocate for timely results and follow
• 29:43
  up when families move between level of care?
• 29:46
  The primary care doctor, it's their responsibility to know the results of the newborn screen.
• 29:53
  And if they're sending them to specialists and they have abnormalities,
• 29:57
  then they should convey that information.
• 30:00
  Now, the state does have, you know, endocrinologists, metabolic specialists,
• 30:07
  and so forth, that they can share that information with if that patient is going to them.
• 30:13
  So even if you didn't give them the information, say if you have a baby that
• 30:18
  was found to be hypothyroid and you send them to an endocrinologist,
• 30:24
  that endocrinologist can access that information and know what the newborn screen
• 30:29
  showed and then get labs and so forth, unless you've done the labs and then
• 30:33
  you can send the labs as well.
• 30:35
  So every case is a little different depending on who the specialist is.
• 30:41
  Okay. How do the updated guidelines address disparities in access,
• 30:47
  follow-up, or parental understanding of screening results?
• 30:51
  Well, I think the parental understanding is the most important thing.
• 30:56
  So the state, when they screen, they can have what we call critical levels where
• 31:02
  they're pretty sure this may be something.
• 31:04
  They will not only reach out to the family but they'll reach out to the pediatrician
• 31:08
  to make sure that they communicate because.
• 31:13
  Becomes a we got to go for diagnosis as opposed to we can wait on things.
• 31:21
  Okay, so there is part of the newborn screening program is a clinical care coordination
• 31:26
  and there are nurses that work in each group. So if you have an amino acid disorder,
• 31:32
  there's a nurse that works with that group.
• 31:35
  They will be contacting the family and the pediatrician.
• 31:39
  If they can't get a hold of the family, they actually can send out public health
• 31:44
  nurses and so forth, because it's very important to get that child into diagnosis, okay?
• 31:50
  And it happens because a lot of times when a family is giving birth,
• 31:55
  they don't know who the pediatrician is, so we don't have the right people to contact.
• 32:00
  But we have an address, and we have a mother's name, okay?
• 32:03
  And so a lot of effort is made to find that person with the baby to get them into intervention.
• 32:11
  A letter is sent out, but,
• 32:14
  Sometimes they move, you know. So there's a lot of effort found.
• 32:18
  And clinical care coordination makes sure that they get to the specialist that they need to.
• 32:24
  They'll give them names and so forth and maybe help them.
• 32:29
  So if you think about that there are 400,000 births in Texas,
• 32:37
  there's probably about 20 to 25 abnormal screens.
• 32:42
  Of that we found about a thousand to
• 32:45
  thirteen hundred cases so there's
• 32:48
  a lot of them that will not have stuff and we understand
• 32:51
  that it builds a lot of angst when you get a call that said your baby have this
• 32:56
  abnormal thing so so it's a lot it's so stressful it is stressful but there's
• 33:01
  training that have gone into the people who deal with that to understand you
• 33:06
  know we never say your child has something.
• 33:09
  We say your child may have something, but it's, you know, your baby screen showed up abnormal.
• 33:17
  So you need to get these tests to let us know if your baby has something or not.
• 33:22
  And this is where you go and this is what you do to get those done.
• 33:27
  And, you know, you may be lucky and your baby may be fine.
• 33:32
  Or you may have, we may find that your baby has a problem and we need to deal
• 33:36
  with that problem so that your baby can be as healthy as possible.
• 33:40
  So yeah, it's very stressful.
• 33:43
  Obviously it's stressful, you know, like what do you do? And yeah,
• 33:49
  And so, you know, I would just tell you, my son, his newborn screen came back
• 33:55
  with an abnormal hemoglobin. I mean, it freaked me out.
• 33:58
  And it's kind of like I was like searching everything as to what to do.
• 34:03
  And you go and you get the test and then you find out what it is and then you go.
• 34:10
  So, and it's whether it's an abnormal, if it's something you have to deal with
• 34:16
  or it's something that's transient.
• 34:17
  Okay. It's still like, you know now.
• 34:21
  And it's better than not knowing. So yes, it is stressful. No one wants to find
• 34:26
  out that there's something wrong with their perfect baby.
• 34:29
  But you want to keep that perfect baby. And if you look at the stories of the
• 34:34
  parents who had children that were sick and no one knew what was wrong with
• 34:40
  them because they didn't have the technology or the ability to do testing,
• 34:44
  that is very stressful.
• 34:46
  Yeah, if you look at 100 years ago, where it was just very common for kids to die and babies die.
• 34:53
  The story of the mom who had the two children with PKU, she went to everybody.
• 34:58
  She was like going to people, telling them her children were not the same,
• 35:02
  that they had been able to sit up and walk, and now they can't anymore,
• 35:08
  that they have lost these milestones.
• 35:10
  You know, people didn't know what to do. It wasn't until she found somebody
• 35:14
  who said, when she said, well, their urine smells funny, and he goes,
• 35:17
  well, give me some urine.
• 35:18
  I'll go test it. And that's how they found that they were,
• 35:21
  ketones in the urine that was giving the funny smell. But that still wasn't
• 35:26
  enough because that we still didn't have a way of figuring out how to treat that.
• 35:31
  You know, it was just, okay, we had a diagnosis, but at least she had a diagnosis.
• 35:35
  Like, this is what's wrong with my child. It's not in my head that this is what's
• 35:39
  wrong with my child. My child has something really wrong.
• 35:43
  And even though they don't know what to do, I'm going to keep asking people, Like, what can I do?
• 35:49
  You know, Louenzel's Oil. That's
• 35:52
  a movie that was based on that kind of story. I remember that movie.
• 35:57
  Wow. That's a great one.
• 36:00
  Alice, what is the recommended approach for counseling families about false
• 36:04
  positives, false negatives, screening limitations? Do you want to mention anything about that?
• 36:09
  Well, I think to bring up all of that, you know, this is a screen.
• 36:15
  This is not a definitive test.
• 36:18
  And so you want to cast a bigger net to make sure you don't miss anybody.
• 36:24
  Okay, so you don't want any false negatives, I guess.
• 36:31
  You want false positives. You don't want to miss somebody.
• 36:37
  And missing somebody is really not a good thing, right?
• 36:40
  So there will be more children that screen positive, even though they don't have the condition.
• 36:47
  Because they're just a little bit different than most people, okay?
• 36:52
  Because when you're doing 400,000 tests, you can set up a lot of means and standard
• 36:58
  deviations and so forth and know where your cutoffs need to be.
• 37:03
  And those are constantly being refined as to like,
• 37:07
  you know, so if we have a lot of false positives in the test,
• 37:11
  the state actually does look at ways to see if they can minimize it,
• 37:16
  whether they are doing wrong cutoffs or the reagents are changed or something.
• 37:21
  Because no one wants to have to tell someone that a test may show that their child have a condition.
• 37:31
  So it's a multiple-factor thing.
• 37:35
  But when you get down to the parent with the abnormal test, I mean,
• 37:40
  trust that the screen is real and then follow through. Get the testing.
• 37:47
  The testing may tell you the child doesn't have the condition and we can all
• 37:51
  breathe a sigh of relief at that point.
• 37:55
  There was something in that test that was different than the majority of the tests that were done.
• 38:02
  And these are all great things to say to parents and caregivers.
• 38:06
  Knowledge is power, right?
• 38:09
  Are there emerging technologies, Alice, such as genomic sequencing or point-of-care
• 38:16
  metabolic testing that might reshape newborn screening in the future?
• 38:20
  Actually, there is quite a bit going on with whole genome sequencing.
• 38:26
  And New York City has, I mean, the state of New York has done a pilot on it.
• 38:31
  And so there are some targeted pilots.
• 38:36
  There are some genes that there are targeted therapies for, so that it is something.
• 38:42
  NIH actually funded a study that looked at what to do when you do stuff like that.
• 38:51
  So looking into the ethics of it as well as how to handle it.
• 38:55
  Because when we do whole genome sequencing, we find lots of things that we don't know what it means.
• 39:01
  Okay, and how do we deal with that? So there is a NIH pilot study called BEACONS
• 39:07
  that's coming around, trying to pilot some states to do some whole genome sequencing.
• 39:14
  Anytime they do that, it's going to have to be with consent.
• 39:17
  So it would be, you know, I mean, Texas has applied.
• 39:23
  I don't know if we'll get it, but it would be to see if it's a feasible thing to do.
• 39:31
  And in that case, some of the genes would tell us about some of the conditions
• 39:37
  we already screened for.
• 39:39
  And so there would be some of that. But yeah, there is a lot of push for that.
• 39:45
  And again, these are the people, the people who want it are the ones who say, we want to know.
• 39:51
  We would like to shorten the diagnostic journey. We would like to know.
• 39:57
  But there's a group of people that don't want to know, don't want you telling
• 40:02
  them that they may have something that may not appear until they are in adulthood.
• 40:08
  And so those are the two versions that we have to deal with.
• 40:13
  But yes, there is a lot of movement.
• 40:19
  Anything we didn't cover that you would like to mention quickly,
• 40:23
  Alice? This has all been so insightful.
• 40:27
  I think when I first started in this journey of learning about newborn screening and so forth,
• 40:33
  a thing that really impressed me was I was with the band with one of my children.
• 40:43
  And one of the young ladies in the band came up to me and said,
• 40:47
  do you know anything about PKU?
• 40:50
  And I said, well, I do know a few things about PKU. And I would say it was a helper.
• 40:55
  And you imagine she's a beautiful young lady in the band playing an instrument on a band trip.
• 41:02
  So, you know, that is such a wonderful thing when you think about where before
• 41:09
  we had the screening, these children were in institutions and many of them died very young.
• 41:16
  So knowing that we can find conditions.
• 41:21
  And, you know, I remember the first child when we were doing the study on critical
• 41:25
  congenital heart disease screening, the first one we found, that baby was so beautiful.
• 41:31
  I would never have picked him up out of a crowd.
• 41:34
  He had a perfectly normal physical exam, except that his post-oximetry was reading in the 80s.
• 41:41
  Wow. Okay. And we diagnosed his cardiac condition. He got surgery and he's going to have a great life.
• 41:48
  You know, so these things that we do that we don't think about being much because
• 41:53
  we do it every day on every baby and so forth.
• 41:57
  And I think when we were doing the study, some of the nurses that were helping
• 42:01
  us in some of the hospitals were going, well, we weren't sure if it was right
• 42:04
  because, you know, the baby looks so good. So we went and changed the probe.
• 42:08
  We got a new monitor and everything.
• 42:10
  But so because what our eyes tell us is not what we find.
• 42:16
  And it's just helping us diagnose things earlier and better.
• 42:23
  Thank you so much, Dr. Alice Gong, for being here today on Pediatrics Now. This was so amazing.