Carol Johnson from the University of Iowa’s Newborn Screening Program is our guest this week. She joins Ben and Anya in a conversation about the public health importance of newborn screening, maternal and child health, and the overall positive impact that screening programs have in their communities.

More about newborn screening at bit.ly/3QjRJF0

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Ben Sindt:

Hello, everyone. Welcome back to From the Front Row, brought to you by the University of Iowa College of Public Health. My name is Ben, and I’m joined today by Anya. If this is your first time with us, welcome. We’re a student-run podcast that talks about major issues in public health and how they’re relevant to anyone, both in and outside the field of public health.

Ben Sindt:

Today, we are joined by Carol Johnson, the follow-up coordinator at the University of Iowa Newborn Screening Program. She also serves on a variety of local, state, and national newborn screening committees. She’s here today to talk with us about the program and its public health importance. So let’s get started. Can you tell us about how you got started working with the Iowa Newborn Screening Program?

Carol Johnson:

Hi, Ben. Sure. I initially, and I called it began to play, in newborn screening in 2005 when the Iowa Newborn Screening Program hired their first medical director of newborn screening. She needed an administrator, and I was the administrator in the Division of Medical Genetics and Genomics and Pediatrics.

Carol Johnson:

And so I took on that role as an administrator. Through that, she thankfully, because it helped me learn so much, took me to national meetings and taught me a lot about newborn screening. And then, in 2011, the existing coordinator resigned from that position, and then I stepped into that role. I’ve been the coordinator since 2011, but yet as I say, playing in newborn screening since 2005.

Anya Morozov:

Yeah. So it sounds like you had a helpful mentor almost.

Carol Johnson:

Absolutely. Absolutely.

Anya Morozov:

Okay. So moving on, for those who are not familiar with it, what is newborn screening?

Carol Johnson:

That’s a great question, Anya. Newborn screening, at least blood spot newborn screening, which is the program that I coordinate looks for babies that are at risk by doing screening on a blood spot, which is collected at about 24 hours of life from all babies that are born in Iowa.

Carol Johnson:

By identifying babies at risk, then that gives the program, as well as that baby’s care provider, a chance to intervene on behalf of that baby to prevent untoward outcomes such as permanent disability or death. So it’s great because I get to say, “I help save babies’ lives.” Right? I have the best job ever.

Ben Sindt:

You kind of answered why it’s important there. We’ll kind of go a little deeper than that. How do you think it changed? How the impact it’s made, would you say? The importance of the program and the developments we’ve seen over time?

Carol Johnson:

Sure. That’s a interesting question too, Ben. And what comes to mind right away is we began screening for cystic fibrosis in the United States about 2006 or so. And at the time, we started screening for cystic fibrosis, it was thought that the most important thing was to prevent that first pseudomonas infection in the lungs for those babies or those children that had CF.

Carol Johnson:

And through newborn screening, that thought has changed. And while that’s still an important clinical thing that you want to prevent infection, now we know the most important thing is to get that baby on enzyme replacements as soon as possible so that they have proper nutrition, have the ability to grow, to be stronger, and the pulmonologists that treat cystic fibrosis will tell you that newborn screenings actually been a game changer.

Anya Morozov:

So it sounds like scientific developments are informing developments in newborn screening.

Carol Johnson:

Absolutely. Sometimes I think it goes both ways, but yes, and I think one of the biggest challenges we’re going to have in newborn screening is how quickly gene therapy is being developed now, and so that’s great. We’re happy that that’s happening for patients. I think the challenge for newborn screening is once there is treatment for a condition, people are going to want that condition added to the newborn screen.

Carol Johnson:

And there’s only so much capacity and bandwidth as they say, so we’re going to have to figure that out. And with that, if that is what people want, the public wants, then you guys know you’re in public health. Then, the funding is going to have to increase right along with that. Right? And that’s always a challenge in public health.

Anya Morozov:

Moving on to getting a lay of the land, so to speak, you came and spoke to one of my classes last semester and talked about how newborn screening differs in different places. Can you talk about what it looks like here in Iowa compared to other places in the US?

Carol Johnson:

Sure. What Anya is referring to is when I do presentations about newborn screening, I want to make sure that everybody understands that while there is federal oversight for newborn screening, each state really has autonomy and they get to decide what they do or what they don’t do. Differences are present based on what is screened for, how they screen, how they’re funded, all kinds of things like that.

Carol Johnson:

But I think one good positive thing or good thing is that Iowa is one of the most, or is the most, timely state for newborn screening in the country. That’s how we differ in a very positive way. And that’s because we work 365 days a year and that includes our courier, the lab staff, and follow-up. It’s also because we are the only program in the country that has two shifts in their newborn screening program.

Carol Johnson:

And that is because some of the conditions that we screen for are life-threatening, which I think you understood from preventing untoward outcomes and some of those conditions, minutes, hours, and days really can make the difference of life and death. So that’s why we believe so strongly in timeliness in Iowa and have really put time and resources in managing that.

Carol Johnson:

Something that’s a little different in Iowa is that I’ve alluded to that this federal oversight, and there’s this national recommendation of a uniform screening panel. And right now, there are 33 disorders on that panel, and Iowa is screening for 30 out of 33 of those disorders. However, that is going to change. I can’t give you a exact timeline yet, but we will be screening for those other three conditions in Iowa in 12 to 24 months, and that’s due to some legislation that was passed recently, where we have to be screening for everything that is on that recommended panel.

Carol Johnson:

And in addition to that, as we talk about growth and we’ve talked about how gene therapy might influence new conditions being added, it says that we have to review any new disorders that are added to that recommended panel within 12 months, doesn’t say we have to screen within 12 months, but we have to do evidence-based review of those conditions.

Ben Sindt:

So you were mentioning here funding plays a part, federal regulation plays a part-

Carol Johnson:

Yes.

Ben Sindt:

… deregulation plays a part. So how exactly do you decide what to screen for then? Because clearly, 33 disorders is a lot, but there’s also a lot more that you could potentially if you could look on.

Carol Johnson:

Right.

Ben Sindt:

How do we go about deciding what we’re screening for?

Carol Johnson:

And the other thing too, Ben, is that it also depends how I could count the disorders. Some people will say 33, some will say over 50, because the metabolic screening there’s 20, 30 disorders just under the metabolic screen. So that also was confusing to people too, right?

Carol Johnson:

When you’re looking state to state, well, this says they screen 30 but this one says they screen 60. And it looks like there’s pretty big disparity, and it’s really just about how people are counting. So how do we decide? We have a process in place. However, this bill is going to change that process. We are in discussions right now of what that’s really going to look like.

Carol Johnson:

Both the before and after the bill, I think there’s some basics that are going to be very similar in that it will be an evidence-based review. There will be a core work group that consists of people from the laboratory, people from follow-up our medical director people like that. And then, I think there’ll be an additional ad hoc group that are, this is what I’m going to call the subject matter experts. I’m going to make up a disorder, let’s just say disorder X. And you need to learn and understand more about disorder X, so we’re going to bring in content experts to serve as ad hoc members.

Carol Johnson:

And we have great medical care here in Iowa. Really, for a state our size, it’s pretty fantastic the care that we have available to us here. However, the more disorders that you add, and these disorders are often rare, we may have to go out of state to find that content expert as well. This is again how I think the landscape might be changing.

Anya Morozov:

Yeah. It sounds like there would be just a lot to weigh in terms of deciding whether there’s-

Carol Johnson:

There is. And the other thing that I think people don’t quite understand is when you go see your doctor, your doctor is caring for you. The one. And in public health, we really have to think about how our decisions are going to affect our entire population. And sometimes that clinical view and the public health view butt heads sometimes, so that’s something that I think a lot of people struggle with as well. And we have to navigate through, and education is part of that as well.

Anya Morozov:

I guess moving into a clinical view per se, let’s say I’m a new parent, and I just noticed that my newborn tested positive on one of the screening tests, what happens next?

Carol Johnson:

In Iowa, by law, we work through that baby’s PCP. So if, we’ll just say Baby Johnson, had an abnormal screen, then the lab has done their testing. They’ve notified follow-up. And now, the follow-up staff are going to look at the demographic information for that baby. And we’re either going to call the hospital if that baby is still an inpatient or we’re going to be calling that baby’s primary care provider.

Carol Johnson:

And that information has been supplied to the birthing center or the midwife from the parents. So then we call Dr. Smith, let’s say, and we say, “Dr. Smith this baby is presumptive positive for cystic fibrosis. This is what we recommend happens next. This is how you do it.” And then, that PCP or their designated person will call the parents and inform them of the result.

Carol Johnson:

I also wanted to mention here, it’s a national issue that we know that communication between the PCP and the parent isn’t always the best. It maybe very vague. It is a screening test. And so the PCPs doesn’t want to alarm the parents, but yet we still want them to do something usually, so it’s a balancing act, right?

Carol Johnson:

Because we know and of course we hear stories that filter back to the program from parents about how this goes or sometimes doesn’t go, so we have instituted a family contact call. And so what happens is that we verify that the provider has talked to the parent. If they have, great. If not, we ask them to please make sure that they do that. And then, we do this family contact call. That’s about roughly the next business day, we’ll say, after that provider has talked to the family, and it’s a genetic counselor who calls.

Carol Johnson:

And so the genetic counselor will talk about, first of all, “Tell me what you understood.” It isn’t necessarily about what they were told. It’s really about what they understood, right? And those can be very different things sometimes. And it’s also very scary for the parents. Chances are, they didn’t absorb a whole lot after somebody said something might be wrong. That’s human nature. We understand that.

Carol Johnson:

The counselor says, “Tell me what you understood.” Talks about what the next steps are going to be with this family, and sometimes that might be getting just a repeat screen. Sometimes that’s going in and getting some blood drawn. Sometimes it’s coming in to see a specialist or to go into a CF center, cystic fibrosis center, and having a sweat test done.

Carol Johnson:

So they just go over that and then, if we know the names of the staff at the location where they’re going in to see the specialist, we give them names and we go through what’s going to happen at that first visit too. We want to reduce parental anxiety. We want to increase their knowledge. And I will say here too, when we talk to the provider, we then follow that up with a fax. That includes our written recommendations, that also includes a one-page educational sheet for the provider, and another educational sheet for the parent.

Carol Johnson:

And because this disclosure is, I would say, 98% of the time done over the phone, we also found the parents were really not ever getting that educational sheet. And so the genetic counselor goes over that and then offers to send that to the family. And they always want that. I mean, the parents want to know, and within that 24 hours they’ve Googled it usually. Right? Sometimes that increases anxiety, right? So sometimes it’s giving the parent more realistic expectations of what this may or may not be.

Ben Sindt:

Obviously, it’s like a very complicated process. Once something does come up or et cetera, et cetera, but how… It’s got to be difficult. I’m sure it’s much easier at the new electronic medical records coming on the past 10, 20 years. But how are you keeping track of all these providers and all these patients? It’s got to be a daunting task, right?

Carol Johnson:

It is a bit daunting. We have a newborn screening database that both the state hygienic lab who does the screening and the follow-up staff use, so we can communicate back and forth with each other. All the documentation about the testing is in there. All the documentation about the follow-up is in there, the genetic counseling, everything. So it’s, in some respects, a one-stop shop.

Carol Johnson:

And within that database is a contact list that probably changes every single day, I think. We edit it, we add to it, we delete a provider out if we’ve heard that they’ve left the state, things like that. That’s how we keep track. There’s always room for improvement.

Carol Johnson:

We’re working actually on a new. They call it a laboratory information system that is going to be even more robust and addresses some of the… We’ll just call it growth in the program too. So, but that’s how we do it. And it works well. Thank goodness it’s not pencil and paper anymore, right?

Anya Morozov:

Oh, gosh. Yeah.

Carol Johnson:

It used to be, I mean, it really did. Right? So yes, thank goodness for technology here.

Anya Morozov:

Wow. Yeah. I can’t even imagine what that must have been like.

Carol Johnson:

Sticky notes, oh yeah, yeah. I wish now, way back before I was even involved, I wish we would’ve taken more photos to document what life was like back then because it’s amazing that things went as well as they did. Right?

Anya Morozov:

Mm-hmm. A lot of your work also seems to involve things like talking to my class and educating-

Carol Johnson:

Right. Yes.

Anya Morozov:

… people about newborn screening. So why do you think this work is also important to do? You’ve talked a little bit about it, but can you expand on it a little bit?

Carol Johnson:

I am very passionate about newborn screening, but I’m equally as passionate about educating about newborn screening. I think one of the saddest things that happens is when the first time that a parent hears about newborn screening is when somebody’s calling them and saying something might be wrong. I think that’s an injustice in some respects.

Carol Johnson:

It isn’t that newborn screening doesn’t want to educate. We try. It is actually in Iowa Law that education is supposed to occur before the screen is collected. But let’s think about when the screen’s collected 24 hours after birth, how many parents are truly… I mean, they’re on this emotional high, hopefully, if everything’s going well, or if things aren’t going well, they’re also emotional, right? If they’ve had a C-section the mom may be on pain medication. I mean, it’s not a great time to try to teach anybody anything.

Anya Morozov:

Yeah. And I’m sure they’re getting inundated with a lot of-

Carol Johnson:

Exactly. And you know that hospital stay when you have a baby is not very long and you’re right. You know, they’re worried about how am I going to feed my baby? How do I bathe my baby? And I think newborn screening gets lost in the shuffle sometimes.

Carol Johnson:

And we also know as much as hospitals want and try to do the right thing that newborn screening brochure just gets thrown into that go home bag, even if it’s handed to the parent and they’re told to read it, I think it just gets put in that go home bag, never to be seen again, which leads me to what our mantra is.

Carol Johnson:

And we’re really working on that is that we really want there to be three different times that patients are parents, I should say, are educated about newborn screening. We want to do it first in the prenatal period when they have a chance to really… I mean, that’s when they’re in that information-seeking mode. They’re not 24 hours post delivery, right? So we want to really work with prenatal providers to talk about newborn screening then the first time. Then, it’s reiterated at the time that the screening is collected, that would be the second time.

Carol Johnson:

And then, the third time is we would really love it if the PCPs would talk about newborn screening with their parents, even if the screen is normal, that’s still important information. Right? And if that parent’s first baby, then they know something about newborn screening. If they have another baby. Right. So sometimes newborn screening has this aura of mystery and that’s unfortunate, especially so if they do the screening in the nursery and not in front of the parents, so yeah.

Carol Johnson:

They’re like, “What’s newborn screening?” I didn’t enroll my baby in that program. What program are you talking about? We do really want to have a three-touch educational system. We’re working on it. It’s tough going. Prenatal providers have an opinion that the mother is their patient, not the baby. So then therefore, why is that their job pediatricians or family medicine providers know what’s their job to deal with abnormal newborn screening, but they don’t always understand the importance of talking about it even if it’s normal. Right? So that’s a problem.

Carol Johnson:

And before I forget, I should mention too, that I represent blood-spot newborn screening, but there are two other newborn screening programs in Iowa. One is a hearing screening program and the other one is critical congenital heart disease or CCHD screening. And both of those tests are always, well, I shouldn’t say always most of the time are done at the bedside, so the parents see those.

Carol Johnson:

When a parent says, “Oh yeah, I know about newborn screening,” it’s often that what they really mean is, “Oh, I know about hearing screening or CCHD screening,” because it was done in front of them. And they remember that. The hearing screening, the babies get these cute little headphones, put on their ears. That’s memorable to a parent, right?

Carol Johnson:

Where the blood spot is not as memorable. Or if it is, it’s because you stuck their baby’s hair, and it made the baby cry. Right?

Anya Morozov:

Yeah.

Carol Johnson:

So, yeah. I just wanted to mention the other two programs before I forgot.

Anya Morozov:

Yeah. But it sounds like the educating, in general, just requires a lot of things. In public health requires a lot of collaboration to really make it happen.

Carol Johnson:

It’s a lot of collaboration and with so much turnover, especially now that we’re seeing and in-

Anya Morozov:

Everywhere.

Carol Johnson:

… not only in healthcare but everywhere. It’s not enough to talk to a hospital once you got to keep going back because their staff has changed. Right? And we have about 80 birthing facilities in Iowa, so just the left of that. And that’s not counting midwives in Iowa, so just the left of that is pretty significant. And again, it goes back to resources, funding, staffing, things like that.

Ben Sindt:

We usually to end on a little bit lighter, hard question here.

Carol Johnson:

Sure. Sure.

Ben Sindt:

You mentioned earlier that you wish you would’ve taken more pictures back in the day, but-

Carol Johnson:

Yes. Yes.

Ben Sindt:

… one thing you thought maybe you knew or you did. Now, you look back and you’re like, maybe it was a little different, maybe I was wrong about that, maybe I don’t know. Just something that you want to reflect on.

Carol Johnson:

Yeah. You know, I think, oh, there’s, there’s so many things I could talk about, Ben. And I wished I could be a little bit more lighthearted and maybe this is. And this is true with education in general, and this is true with human beings. We like to consume information when it’s pertinent to us. Right? And so, that also makes education of newborn screening, a hard left.

Carol Johnson:

But along with that is I worked within the public health arena. I’ve seen all the data about health literacy, the percentage of individuals in the US that are health literate. And I knew the numbers were not great. Last I saw was about 20% or so, and I don’t know if you guys would agree or disagree with that number, but I’m not-

Anya Morozov:

Not sure?

Ben Sindt:

Yeah.

Carol Johnson:

It probably changes based on the subject matter too. Right?

Anya Morozov:

Mm-hmm. For sure.

Carol Johnson:

So, we’re up against that. And then, if you talk about genetic literacy, one of the disorders that we screened for is genetic in origin, meaning it was inherited in some form. Genetic literacy is even lower than general health literacy. And genetic literacy, even in healthcare professionals, is pretty low because genetics, as medicine goes, is a fairly new field. It wasn’t taught in med school until maybe the last 20 years or so. Wasn’t taught in public health until maybe the last 10 or 20 years or so. Right?

Carol Johnson:

So there’s a lot of healthcare providers out there who have no base of knowledge, so to speak, of genetic disorders. And I think that’s what is impacting some of our educational efforts. I think that’s what impacts when the primary care provider is trying to talk to the parent. Some of these conditions are so rare. We may never have a baby born in Iowa with some of these conditions. I mean, eventually we will because numbers are numbers, but I mean, we’re talking incident rate of one in a million, right?

Carol Johnson:

And our birth rate is about 38,000 to 40,000, so probably not during my work lifetime. And to go along with that literacy issue, then you have people who don’t understand the difference between a screening test and a diagnostic test. A screening test, which is what we do, it’s looking for risk. It’s not saying, “Yes, the baby does” or “No, the baby doesn’t.” That’s what a diagnostic test does.

Carol Johnson:

And people don’t understand. I think most people don’t realize that a mammogram or a PSA is really a screening test. It’s not a diagnostic test. It looks for risk. And it tells us if further testing needs to be done, but people don’t understand it. They either take it absolutely at face value or they go the opposite direction and they go, “That’s a screening test. No big deal.”

Carol Johnson:

I wished I would’ve understood that better. I think our approach to education would’ve been a little bit different back in the day, so we’re making adjustments now. But gosh, I feel like we’ve lost some time there, and I wished I would’ve known that.

Anya Morozov:

Mm-hmm. Yeah. Honestly, I feel like I didn’t know the difference between a screening and a diagnostic test.

Carol Johnson:

And again, most… I mean, honestly, most people don’t. It’s just not talked about, I don’t think so. Until it becomes real to you, right? And again, that’s human nature also, so yeah.

Anya Morozov:

Yeah, for sure. Well, thank you so much for coming on today. It was great to learn from you about the newborn screening program. I don’t know. Do you have any final thoughts?

Carol Johnson:

I just want to thank you so much for reaching out to me, you and Ben, to do this. Any time I get to talk about newborn screening, that’s a win, right? Because hopefully, a few more people are going to learn something about newborn screening from this podcast, right?

Carol Johnson:

So thank you again and by doing this, you’ve become advocates for newborn screening, so thank you. I appreciate that. And I guess if anybody has further questions, my contact information is carol-johnson[at]uiowa.edu.

Ben Sindt:

That’s it for this week’s episode. Big thanks to our guest Carol Johnson for coming on with us today. This episode was hosted, written, edited, and produced by Ben Sindt and Anya.

Ben Sindt:

You can learn more about the University of Iowa College of Public Health on Facebook. Our podcast is available on Spotify, Apple podcast, and SoundCloud. If you enjoyed this episode and would like to help support the podcast, please share it with your colleagues, friends, and anyone interested in public health. Have a suggestion for our team? You can reach out to us at cph-gradambassador@uiowa.edu.

Ben Sindt:

This episode was brought to you by the University of Iowa College of Public Health. Until next week. Stay healthy, stay curious, and take on life.