Speaker 1: Hello. My name is Jessica. My second baby, Max, was
Speaker 1: born on my thirty eighth birthday in twenty twenty five.
Speaker 1: Max has one older sister, and both of my pregnancies
Speaker 1: were pretty normal. Because I was considered to be of
Speaker 1: advanced maternal age, we were offered genetic testing each time.
Speaker 1: We were able to find out the sex of our
Speaker 1: babies very early because of this, and we held our
Speaker 1: breath through each round of waiting for the other results. Luckily,
Speaker 1: no abnormalities were ever found. I had a scheduled sea
Speaker 1: section at thirty nine weeks and I was in the
Speaker 1: hospital for four days but doing really well healing and
Speaker 1: nursing Max. Doctors, nurses, pediatricians, and lactations specialists were all
Speaker 1: in and out of my room from the hospital and
Speaker 1: from my own insurance company. I felt like Max and
Speaker 1: I were very well taken care of and watched over
Speaker 1: during our hospital's stay. On day three, a pediatrician came
Speaker 1: into our room and sat down. As soon as she did,
Speaker 1: it felt like something was wrong. She began explaining that
Speaker 1: Max was given a newborn screening at twenty four hours old.
Speaker 1: She explained that newborn screenings are a series of tests
Speaker 1: given to babies in order to identify certain metabolic, endocrine,
Speaker 1: and hemoglobin disorders. These conditions are serious, but many are
Speaker 1: treatable if they are detected early in a child's life.
Speaker 1: She told us that Max had tested positive for a
Speaker 1: condition called phenyl kitenoria or PKU for short. She explained
Speaker 1: that in very rare cases, a person's body cannot process
Speaker 1: one specific amino acid that is found in protein. In
Speaker 1: these people, the amino acid, phenylalanine, builds up in the
Speaker 1: blood and can cause brain damage and severe developmental problems
Speaker 1: if the condition is not treated. She told us that
Speaker 1: a repeat test would be performed because false positives can occur. However,
Speaker 1: she let us know that Max's results were so high
Speaker 1: she really didn't need to give that second test to
Speaker 1: confidently say he had PKU. She also told us that
Speaker 1: she had never seen a newborn screening come back positive
Speaker 1: for PKU, and that it was very very rare. My
Speaker 1: husband and I both had to be carriers, and any
Speaker 1: children we had would then need to receive a recessive
Speaker 1: gene from each of us for the disorder to manifest
Speaker 1: in them. She asked about our first daughter, who would
Speaker 1: have also been given a newborn screening, but we were
Speaker 1: not informed about any results with her, so it was
Speaker 1: safe to say she did not have PKU. I was
Speaker 1: hearing the pediatrician's words and I can reflect back on
Speaker 1: them now, but mostly I remember a blur of not
Speaker 1: understanding what was going to happen to my baby. Sorry,
Speaker 1: I know. I cried for a good amount of time
Speaker 1: before finally managing to ask her what life would look
Speaker 1: like for Max. The part about protein poisoning his brain
Speaker 1: and severe disabilities played on repeat in my mind. Luckily,
Speaker 1: for us, PKU is manageable with a very strict diet
Speaker 1: and medical formula. I could talk on and on about
Speaker 1: our experience with PKU and the low protein world that
Speaker 1: I never knew existed before this, but I will stay
Speaker 1: focused on newborn screening for this episode. Max just turned
Speaker 1: six months old and we are starting to introduce foods.
Speaker 1: He gets to eat almost all fruits because they have
Speaker 1: very little protein, and a specific list of low protein vegetables.
Speaker 1: Eventually he will get to eat some medical foods that
Speaker 1: have the fee removed from them, like rice and pasta.
Speaker 1: He is closely monitored with weekly heel pricks to test
Speaker 1: the level of feet in his blood. By his pediatrician,
Speaker 1: who had not encountered PKU since medical school, but has
Speaker 1: done an amazing job of research and reaching out to experts,
Speaker 1: and by our wonderful genetics team at Emory. Right here
Speaker 1: in Atlanta. Max is thriving and hitting every single milestone.
Speaker 1: He's even beaten his sister to some because she was
Speaker 1: a very late roller. However, absolutely none of this would
Speaker 1: have been possible if we had not caught this disorder
Speaker 1: as early as we did with a newborn screaming. I
Speaker 1: will never be able to express how grateful and privileged
Speaker 1: I am to live in a place and in a
Speaker 1: time where newborn screaming is the norm. If we were
Speaker 1: in another country, or if Max had been born sixty
Speaker 1: years ago, his life and ours would look completely different.
Speaker 2: Jessica, thank you, thank you so much for sharing your
Speaker 2: story with us. It is so meaningful. I feel like
Speaker 2: to hear firsthand the experiences of someone who is like
Speaker 2: this information completely changed my life.
Speaker 3: Yeah yeah, it's really truly incredible and powerful and something
Speaker 3: that we could never express without your help. So thank
Speaker 3: you so much for sharing yours and your family story.
Speaker 3: And we're so glad that things are going well.
Speaker 2: Yeah yeah, Hi, I'm Aaron Welsh and I'm Aaron Amman Updike,
Speaker 2: and this is this podcast will kill you.
Speaker 3: Welcome to Newborn Screening. To Newborn Screening. I don't know
Speaker 3: why I did. And white Hands, I liked that.
Speaker 2: I would like you to do more of that throughout
Speaker 2: the rest of our show. Thank you, thank you. I'm
Speaker 2: really excited for this episode, Erin, because I feel like
Speaker 2: it we talk a lot about individual things that are
Speaker 2: you know, individual conditions or medications or organs, gallbladder. But
Speaker 2: I feel like this has been a really interesting experience
Speaker 2: to learn about a screening, right, not like a diagnostic test,
Speaker 2: but like the process of screening and all of the
Speaker 2: good and weird and bad and you know, gray areas
Speaker 2: that come with it.
Speaker 3: I also am biased, but screening is one of my
Speaker 3: favorite things.
Speaker 2: Like, yeah, it's amazing, it's.
Speaker 3: So incredible, and I love it so much, and we'll
Speaker 3: get to talk so much about it today. But yeah,
Speaker 3: and I love newborn screening specifically, So I'm I'm really
Speaker 3: excited about this episode.
Speaker 2: Yes, I'm also excited that we have a very special
Speaker 2: guest that we're going to be bringing on later, so
Speaker 2: stay tuned. Someone who's like literally an expert on the
Speaker 2: ground developing the future. The future is now, and the
Speaker 2: future of newborn screening is.
Speaker 3: Now is now and they're doing it. So yeah, kind
Speaker 3: of a big deal.
Speaker 2: But we will get to that in a bit.
Speaker 3: First, it is it's quarantiney time.
Speaker 2: It is Aaron. What are we drinking this week?
Speaker 3: We're drinking a drop of knowledge. We are the drop
Speaker 3: of blood in that. We don't need to explain it
Speaker 3: every time, do we.
Speaker 2: We don't. We'll get to it. It's a drop of blood, yeah, okay, okay,
Speaker 2: a drop of knowledge though, like the drink and drink.
Speaker 2: I was at a deli the other day and I
Speaker 2: saw that, you know, like the I think it's Doctor
Speaker 2: Brown's celery soda.
Speaker 3: Yeah, I don't. I don't know what that is, but
Speaker 3: I love the idea of it.
Speaker 2: I feel like you would love this. It's so good.
Speaker 2: It's celery flavored soda, which sounds weird and maybe not good,
Speaker 2: but it's actually delicious. And I thought, what would make
Speaker 2: a good cocktail with this? May be a little bit
Speaker 2: of a drop of lemon juice and if you would
Speaker 2: like some gin.
Speaker 3: If you'd like, if you'd like, why not, we'll post
Speaker 3: the full recipe on our website. This podcast willill you.
Speaker 3: You know, we actually haven't been posting it on the website.
Speaker 2: I know, I need to figure I don't know how
Speaker 2: to do the embedded videos.
Speaker 3: Yeah, I know that it's a simple Google listen. They
Speaker 3: they do get posted on all of our social media.
Speaker 3: I can't do so.
Speaker 2: Check it out here following us there, but on our website.
Speaker 2: Even though we might not yet have Quarantini and plasy
Speaker 2: Barta videos up there, we do have lots of other things.
Speaker 2: We've got transcripts, We've got links to merch to bookshop
Speaker 2: dot org, affiliate page, to our Goodreads list, to music
Speaker 2: by Bloodmobile. We've got a contact us form, so if
Speaker 2: you have any thoughts or episode suggestions, that's where you
Speaker 2: do it. And then we've got a first hand account
Speaker 2: form if you have a story of yours that you
Speaker 2: would like to share. We probably have other things too,
Speaker 2: So check out.
Speaker 3: This podcast would Kill You dot com. While you're on
Speaker 3: the in you can also check and make sure that
Speaker 3: you are subscribed to the podcatcher that you enjoy or
Speaker 3: the exactly Right YouTube channel, where you can also find
Speaker 3: video versions of my van a White hands worth It
Speaker 3: and that's why we do it, why we do what
Speaker 3: we do. The end, Aaron, can you tell us we're
Speaker 3: doing this a little out of order? Can you tell
Speaker 3: us about the history of newborn screening, because I know
Speaker 3: it's a good one.
Speaker 4: It is.
Speaker 2: Yeah, let's take a quick break and I'll tell you
Speaker 2: all about it. In the sixty years since the first
Speaker 2: newborn screening program began, these screenings have prevented death and
Speaker 2: disability in countless children across the globe, making it one
Speaker 2: of the greatest public health achievements of the twentieth century,
Speaker 2: alongside some of our other favorites like antibiotics, vaccine, fluoride,
Speaker 2: and seat belts, which we should do an episode on
Speaker 2: seat belts.
Speaker 3: I've never thought of doing an episode on seat belts,
Speaker 3: but I bet there's an interesting history there. Eric, Yes, okay,
Speaker 3: I'm adding it to the List's like a new episode
Speaker 3: that I get to learn about.
Speaker 2: I feel like there will be a lot that you
Speaker 2: will tell me about seatbelts.
Speaker 3: I'd have to learn about forces and physics and that
Speaker 3: sounds No.
Speaker 2: We don't have to do that, okay, or crash test dummies.
Speaker 3: Anyway, Yeah, okay, anyways, Yeah, going back to newborn screening.
Speaker 2: With one just one drop of blood, we can screen
Speaker 2: a newborn baby for dozens of conditions that we can
Speaker 2: treat or provide some other medical intervention for.
Speaker 3: It is like more than one actual drop, but like
Speaker 3: it's very few drops.
Speaker 2: It's a figurative. It could be one drop if it's
Speaker 2: a larger drop. Yeah, anyway, So, but children who end
Speaker 2: up receiving a diagnosis for one of these disorders are
Speaker 2: now given opportunities that simply were not available at any
Speaker 2: other point in human history. Newborn screening has grown steadily
Speaker 2: over those past sixty years as our technology allows us
Speaker 2: to cast a wider and wider net. In the early
Speaker 2: years of newborn screening, you'd find just like one or
Speaker 2: two disorders on the panel. Now dozens, There are dozens
Speaker 2: soon it could be hundreds and soon meaning like very soon,
Speaker 2: like kind of now. For some people, the enormity of
Speaker 2: information that is contained in that tiny drop or large drop,
Speaker 2: multiple drops, is staggering, and we are just now starting
Speaker 2: to realize it's full potential with whole genome sequencing, which
Speaker 2: is both excited and overwhelming, because determining whether a disorder
Speaker 2: should be included on the panel that can be tricky
Speaker 2: to navigate, and it involves weighing things like treatment options,
Speaker 2: the feasibility of screening, and the potential benefit to the individual,
Speaker 2: among other considerations. And I know that later on we'll
Speaker 2: talk more about the Wilson and Younger criteria, right totally,
Speaker 2: But going through that process for each and every condition
Speaker 2: that we have the ability to screen for, that takes
Speaker 2: an enormous amount of time, resources, and combined expertise. But
Speaker 2: it is necessary to ensure that we are utilizing newborn
Speaker 2: screening to achieve the greatest benefit and equitability Here in
Speaker 2: the US. Currently, we have a standardized list of disorders
Speaker 2: that all states are recommended to include in their newborn screening.
Speaker 2: It's called the Recommended Uniform Screening Panel or our USP,
Speaker 2: and it includes thirty eight core and twenty six secondary disorders.
Speaker 2: Two main bodies are involved in the decision making process
Speaker 2: for the RUSP. There's the Head of HHS and there's
Speaker 2: the Advisory Committee Inheritable Disorders in Newborns and Children. Ultimately,
Speaker 2: it's up to each state which disorders they screen for,
Speaker 2: but all have at least those core ones that I
Speaker 2: mentioned on their panel.
Speaker 3: Right, It's like the Recommended minimum, yes, yeah, and that,
Speaker 3: but that wasn't always the case, right, So, like before
Speaker 3: two thousand.
Speaker 2: And three, which is not that long ago, that is
Speaker 2: when the which is when the committee was unofficially formed.
Speaker 2: It was later like formalized in two thousand and eight,
Speaker 2: but before two thousand and three, some states maybe screen
Speaker 2: for just a handful of disorders while others had upwards
Speaker 2: of fifty on their list, and so that made newborn
Speaker 2: screening like quite uneven across the US. And so since
Speaker 2: its creation, one of the major things that the RUSP
Speaker 2: has done has been to newborn screening much more equitable
Speaker 2: across these states. And it has also provided and especially
Speaker 2: vital service as testing technology has advanced so very rapidly
Speaker 2: to like a mind boggling degree, right, So, like now
Speaker 2: we have whole genome sequencing on the very very near horizon, right,
Speaker 2: and we need to be prepared for how to handle
Speaker 2: this massive influx of information because if we could incorporate
Speaker 2: whole genome sequencing to newborn screening, which spoilers we are doing,
Speaker 2: our screening capacity will expand enormously.
Speaker 3: Oh, it totally changes the game.
Speaker 2: Totally, totally. Unfortunately, unfortunately, in April of this year twenty
Speaker 2: twenty five, the Department of Health and Human Services, headed
Speaker 2: by Robert F. Kennedy Junior, the one and only dissolved
Speaker 2: the Advisory Committee on Heritable Disorders in Newborn's and Children.
Speaker 2: This is the committee that weighs in on the RUSP. Yeah,
Speaker 2: the decision was quietly announced just a few weeks just
Speaker 2: a few weeks before the committee was set to evaluate
Speaker 2: two new conditions for screening so metachromatic leco dystrophy and
Speaker 2: Dusche muscular dystrophy. And so far no formal announcement has
Speaker 2: been made regarding whether this committee will be reinstated in
Speaker 2: some form or another and if those conditions will be
Speaker 2: added to the RUSP, which is hugely disappointing to say
Speaker 2: the least, I think for these advocacy groups, the medical
Speaker 2: practitioners and researchers who have worked so very hard to
Speaker 2: nominate these conditions for inclusion, to get them on the
Speaker 2: possible list.
Speaker 3: It's especially just so depressing to think about how so
Speaker 3: many of the advocates for every one of these disorders
Speaker 3: that ends up being added to the RUSP are parents
Speaker 3: of kids whose diagnoses weren't caught because these things are
Speaker 3: not on the RUSP, despite the fact that we do
Speaker 3: have tests for them and we do have tree it's
Speaker 3: available where if things were caught earlier, their condition could
Speaker 3: have been different.
Speaker 2: Yep.
Speaker 3: Yeah, So yeah, this is a big deal.
Speaker 2: It is a big deal. It is a big deal,
Speaker 2: and you know, I think, just to put some numbers
Speaker 2: onto this, every year, approximately thirteen thousand infants in the
Speaker 2: US receive a diagnosis for a treatable condition and it
Speaker 2: was initially detected through newborn screening.
Speaker 3: Thirteen thousands every year. That's a lot.
Speaker 2: Yeah, and that number has the potential to grow as
Speaker 2: we are able to capture more individuals, more.
Speaker 3: Things you add to the list.
Speaker 2: Exactly, especially with genome with whole genome sequencing. But for
Speaker 2: that number to grow, for the number of conditions that
Speaker 2: we detect to grow, and for newborn screening to grow equitably,
Speaker 2: we will need some sort of panel of experts to
Speaker 2: help sift through the tsunami of information that is now
Speaker 2: available thanks to genomic sequencing. Fortunately, this is like the
Speaker 2: hope on the horizon that does seem like it might
Speaker 2: be within reach because also in April of this year,
Speaker 2: so this is just before the announcement dissolving the Advisory
Speaker 2: Committee came out, the NIH Common Fund announced a research
Speaker 2: opportunity titled the Newborn Screening by Hold Genome Sequencing Collaboratory Initiative. Okay,
Speaker 2: like a lot of words like, yeah, what does that mean?
Speaker 2: What does that mean? Yeah, So what it means is
Speaker 2: that the NIH has set aside a pot of cash,
Speaker 2: so four point eight million dollars per year over three years,
Speaker 2: so totally fourteen point four million dollars. Okay, that's what
Speaker 2: the NIH has set aside to figure out how we
Speaker 2: can incorporate hold genome sequencing into the existing state based
Speaker 2: US public health newborn screening programs. So basically, this money
Speaker 2: is saying, okay, different programs, please apply to be the
Speaker 2: ones to help us, you know, use our existing infrastructure
Speaker 2: to develop and implement hold genome sequencing for newborn screening
Speaker 2: across the US.
Speaker 3: It's like, help us figure out how we're going to
Speaker 3: convert from what we have now to hold genome sequencing
Speaker 3: at some point in the future. Yes, and we're going
Speaker 3: to do it at these sites that we pick based
Speaker 3: on whoever applies to this to.
Speaker 2: This initial collaboratory fund. Yeah, okay, iniative.
Speaker 3: That's great, it's great.
Speaker 2: It's great. So, yeah, the focus of this initiative is
Speaker 2: not like, how do we best develop whole genome technolo
Speaker 2: hold genome sequencing technology. We have that technology for the
Speaker 2: most part, but it's just how can we best fold
Speaker 2: it into the screening programs that we already have. So
Speaker 2: the the other good news thing about this is that
Speaker 2: it's moving pretty rapidly. So applications were due in May
Speaker 2: and the earliest start date was September one, twenty twenty five,
Speaker 2: so it's possible that by the time this episode is released,
Speaker 2: the project is already underway. So that's that's pretty that's
Speaker 2: pretty good.
Speaker 5: Right.
Speaker 2: There's still this issue though, of the dissolved advisory committee,
Speaker 2: so like what does it mean in light of that?
Speaker 2: It does seem that part of this new initiative involves
Speaker 2: determining a target gene list, so, in other words, genetic
Speaker 2: conditions to include on the screening panel.
Speaker 3: Which is really important and we'll talk in a lot
Speaker 3: more detail about how those decisions are made.
Speaker 2: Hugually important, hugely. Yeah, and so this could conceivably supplement
Speaker 2: or eventually replace the RUSP as genomics sequencing supplants traditional
Speaker 2: newborn screening greatly. Expanding the number of conditions that we
Speaker 2: screened for in that process. Okay, and so this project
Speaker 2: seems like it would go a long way towards bringing
Speaker 2: or it will go a long way towards bringing newborn
Speaker 2: screening into this new era of whole genome sequencing. And
Speaker 2: the panel that was dissolved would probably have had to
Speaker 2: change to incorporate this new technology at.
Speaker 3: Some point the future, once it exists already.
Speaker 2: Right, So that's that's that's the sort of the question
Speaker 2: is like, is this a perfect replacement? It doesn't seem
Speaker 2: at this point like it is, right, Like I the
Speaker 2: questions that I still have are what happens to the
Speaker 2: RUSP while this project slash collaboratory gets up and running.
Speaker 2: Will those two nominated conditions or or any others that
Speaker 2: come up in the you know, in the next few years,
Speaker 2: will those be evaluated and added? You know, what happens
Speaker 2: if we're still a decade away from genomic sequencing being
Speaker 2: the norm at state public health departments like our state's
Speaker 2: on their own until then?
Speaker 5: Right?
Speaker 2: What happens? Also after three years when this project ends,
Speaker 2: will the funding be renewed?
Speaker 4: I don't know.
Speaker 2: I don't know, So, like I this. I mean, this
Speaker 2: initiative is a really exciting and necessary step forward to
Speaker 2: meet the informational challenge posed by genomic sequencing technology, because
Speaker 2: the future is here, and this project will help us
Speaker 2: navigate that future carefully, thoughtfully, and with evidence to support
Speaker 2: our decisions. I still don't know what happens to newborn
Speaker 2: screening in the meantime.
Speaker 3: Yeah, I feel like that's what sounds very scary about it.
Speaker 3: Is it's like, yeah, we're gonna get all ready for this,
Speaker 3: but then it's like, so we're just what are we
Speaker 3: We're just gonna stay stagnant. Is one state maybe like
Speaker 3: advisory board gonna take over like supplant the thing just informally?
Speaker 3: I don't know, Like, yeah, is every state just gonna
Speaker 3: have to work harder to decide if they're going to
Speaker 3: add things to their newborn screening list in the meantime?
Speaker 2: Right, will one state emerge as a leader and say
Speaker 2: these are the things that we should be screening for?
Speaker 4: You know?
Speaker 2: Will someone take up that, right torch? I guess yeah? Yeah.
Speaker 2: But okay, so now that we know what the future
Speaker 2: might look like, even if you still have questions about
Speaker 2: the present, shall we take a peek at the past
Speaker 2: to see the origins of newborn screening and how far
Speaker 2: we've come since then. Yes, let's okay, okay. On November
Speaker 2: twenty fifth, nineteen sixty one, a letter to the editor
Speaker 2: appeared in Jamma with the title quote blood screening for
Speaker 2: fetal keytenuria end quote.
Speaker 3: That's it. That's just the whole title. The whole title. Okay.
Speaker 2: This is a letter to the editor. By the way, So,
Speaker 2: in just over six hundred and sixty words, doctor Robert
Speaker 2: Guthrie described a new technique for testing newborns for a
Speaker 2: condition called feenal keytinuria. Briefly, it's PKU. I won't keep
Speaker 2: saying that because it's difficult. Erin, could you give us
Speaker 2: like a brief rundown of what PKU is?
Speaker 3: Oh my gosh, really, how on the spot?
Speaker 4: As sure?
Speaker 3: So PKU is as a metabolic disorder where babies are
Speaker 3: not able to break down certain amino acids and so
Speaker 3: then they build up in their bloodstream and can end
Speaker 3: up being toxic.
Speaker 2: That's the shortest way to say it. That's great, okay, perfect,
Speaker 2: thank you. I probably should have written something out, but
Speaker 2: I was like, no, you did it.
Speaker 3: I have nothing. My heart rate spike.
Speaker 2: Oh no, I'm sorry. It did great, A plus A plus.
Speaker 2: So yeah. But this, this test that Robert Gouthrie had
Speaker 2: written to the editor about examined a spot of blood
Speaker 2: to see if there was an excess amount of an
Speaker 2: amino acid called phenylalanine. It was not a diagnostic test,
Speaker 2: but it indicated which individuals needed to be tested further
Speaker 2: to confirm that they had PKU. The blood screen was
Speaker 2: it was inexpensive, it was easy to administer, and it
Speaker 2: produced sensitive results. And even better, one of the best things,
Speaker 2: the biggest improvements about this test was that it could
Speaker 2: be administered twenty four hours after birth, like super early,
Speaker 2: super early, because there was an existing PKU test at
Speaker 2: this time. But what it did is what it used
Speaker 2: urine collected in diapers, and it was only accurate, like
Speaker 2: six to eight weeks after birth, during.
Speaker 3: Had time for things to build up probably.
Speaker 2: Yep, exactly, so like enough marker. But then if you're
Speaker 2: getting that high enough, like once you were able to
Speaker 2: detect there, the baby might have already experienced irreversible brain
Speaker 2: damage due to the build up of the semino acids.
Speaker 2: So but in the letter, Guthrie mentioned that they had
Speaker 2: tested over three thousand kids who were residents at a
Speaker 2: state school, two thousand already and this and the test
Speaker 2: had confirmed those that had already been diagnosed with the
Speaker 2: diaper test and detected at least two more that had
Speaker 2: been missed.
Speaker 5: Wow.
Speaker 2: So like this is six hundred and sixty words. He
Speaker 2: was able to fit a whole lot.
Speaker 3: Really just creamedeon in there quite concise. Yep, yep.
Speaker 2: And this, this Guthrie test, as it would become known,
Speaker 2: it would revolutionize medical genetics and public health because the
Speaker 2: potential was immediately seen for like what this could do? Right, So,
Speaker 2: in nineteen sixty three, two years after this letter's publication,
Speaker 2: Massachusetts became the first state to mandate newborn screening.
Speaker 3: Wow.
Speaker 2: Two years, two years. And this is after successful campaigning
Speaker 2: by the Joseph P. Kennedy Junior Foundation and JFK's New
Speaker 2: Task Force. Other states and countries shortly followed Massachusetts lead,
Speaker 2: and by nineteen sixty five, thirty two US states had
Speaker 2: laws for newborn screening.
Speaker 3: Wow.
Speaker 2: Four years, that's very fast.
Speaker 3: Yeah, in medical times.
Speaker 2: In medical I mean, right. And so of those thirty
Speaker 2: two US states that had you know, included newborn screening,
Speaker 2: twenty seven had mandated it okay, And as the number
Speaker 2: of babies whose blood was tested climbed into the hundreds
Speaker 2: of thousands, and then into the millions, it was clear
Speaker 2: that newborn screening was not only FEASA, it was changing
Speaker 2: people's lives and futures. And so people were like, well,
Speaker 2: what else can we do with this? Like this has
Speaker 2: had such a hugely positive impact so far, there must
Speaker 2: be more out there that we can screen for, And
Speaker 2: so researchers were looking into other conditions that could be
Speaker 2: treated early and that could be easily included in this
Speaker 2: blood drop, this heel prick test, And by the nineteen
Speaker 2: sixties the late nineteen sixties, a few other conditions ended
Speaker 2: up being added to some country screening protocols, and research
Speaker 2: was still underway to identify others, as it will always
Speaker 2: be underway. And so along with this heightened interest in
Speaker 2: this area of research came this realization that, like okay,
Speaker 2: we have to figure out some ethical guidelines for what
Speaker 2: we should and what we shouldn't screen for, Like how
Speaker 2: should we prioritize research efforts to achieve the greatest benefit
Speaker 2: while also minimizing the potential for harm. Because knowledge, yes,
Speaker 2: knowledge can be power if we use that knowledge for good,
Speaker 2: if an early diagnosis, you know, allows us to intervene
Speaker 2: and prevent a disease from progressing further, or if it
Speaker 2: helps us to better look out for signs of disease later,
Speaker 2: like if we know that, oh, we should keep an
Speaker 2: eye out for this, right, But knowledge also has the
Speaker 2: power to harm. Sometimes it may be better not to know,
Speaker 2: especially if knowing doesn't change anything. If you get if
Speaker 2: you test positive for something and there are no available treatments,
Speaker 2: what happens? What do you do? What does that knowledge
Speaker 2: give you? And that's like, I mean, there's this is
Speaker 2: like a whole field medical medical philosophy.
Speaker 3: Yes, yeah, and it's all a very individual It's really
Speaker 3: it's an individual right to know or not to know
Speaker 3: at the bottom of line, right, yeah, right.
Speaker 2: And so with all of the sort of these ethical
Speaker 2: questions swirling around newborn screening, in nineteen sixty eight, the
Speaker 2: WHO published a report in which they outlined ten principles
Speaker 2: for which disorders should be included in newborn screening programs.
Speaker 2: And this is the so called Wilson and Younger criteria,
Speaker 2: which I know you'll go into a bit more depth
Speaker 2: with this erin but A couple of the key points
Speaker 2: include that a condition can be tested for, like we
Speaker 2: have a suitable test that will, you know, help to
Speaker 2: not detect it. It's not diagnostic, but like, yeah, I
Speaker 2: don't know why I can't find the words, but you
Speaker 2: know what I mean, right.
Speaker 3: You've got to be able to check for it.
Speaker 2: You got to be able to check for it. And
Speaker 2: it sounds fairly straightforward.
Speaker 3: But yeah.
Speaker 2: And then also the treatment exists, like some sort of
Speaker 2: medical intervention exists. And in the decades since these criteria
Speaker 2: were put forth, they've stayed quite relevant and helpful, but
Speaker 2: it's not always as clear cut as you think. Okay,
Speaker 2: a treatment exists. Check, Okay, this a screening test exists.
Speaker 2: Chat check exactly right, Like, there's a lot more there's
Speaker 2: a lot more new there's a lot more gray area.
Speaker 2: And so as technology especially has expanded our capabilities to
Speaker 2: detect a wider and wider array of conditions, these these
Speaker 2: gray areas, this nuance has really grown with that newborn
Speaker 2: screening is not without controversy and the harm benefit calculation
Speaker 2: is not always clear cut. So let's get into some
Speaker 2: newborn screening nuance. Okay, every history of newborn screening starts
Speaker 2: with Guthrie and PKU, and I think it's worth asking
Speaker 2: why PKU, and to some extent why Guthrie like, who
Speaker 2: was this guy? Yeah, I'll tell your I mean, aren't
Speaker 2: we all yes, we can all yeah. Uh. PKU had
Speaker 2: only been described a couple of decades before Guthrie developed
Speaker 2: his test, so it's like actually fairly recent in Guthrie's time,
Speaker 2: and had been described by an Norwegian pediatrics resident in
Speaker 2: nineteen thirty four. So this guy Falling examined a couple
Speaker 2: of siblings who were both intellectually disabled, and he unexpectedly
Speaker 2: found a dietary derivative of phenolalitin in their urine, something
Speaker 2: that he had never been described before. Just he was like,
Speaker 2: there's surely this is someone has had to have written
Speaker 2: about this.
Speaker 3: Nope.
Speaker 2: So he wrote it up and was like, I think
Speaker 2: that this might be linked to the intellectual disability in
Speaker 2: these children, and if you are. Other physicians were like, okay,
Speaker 2: well we'll take a peek too, and they confirmed this
Speaker 2: finding in other children who also had intellectual disabilities, and
Speaker 2: so it was like, Okay, this is a stronger, stronger
Speaker 2: evidence for these two things being Linkedah, could the intellectual
Speaker 2: disability that we have observed be caused by a buildup
Speaker 2: of phenolalanine in the brain, and if so, could it
Speaker 2: be prevented through a diet that restricted phenolalanine, because that
Speaker 2: is that was possible. It's not like something that you
Speaker 2: were always constantly exposed to. Some foods have it, some
Speaker 2: foods don't, and so.
Speaker 3: And it's not something that like your body is just
Speaker 3: making willing nilly. It's like you are consuming it and
Speaker 3: you're not able to break it down in the way
Speaker 3: that you're supposed to, and therefore it builds up two
Speaker 3: toxic levels.
Speaker 2: So if you are just.
Speaker 3: Never exposed to it, if you never consume it, then
Speaker 3: you can maintain low.
Speaker 2: Level exactly exactly. And so that is that logic right
Speaker 2: there is exactly what a couple of British doctors used
Speaker 2: to create or propose this phenolalanine restricted diet. And so
Speaker 2: they were like, if we administered this early enough, what
Speaker 2: is it possible to prevent the intellectual disability and some
Speaker 2: of the other symptoms associated with PKUM. So they're like, well,
Speaker 2: let's try it out.
Speaker 3: Yeah.
Speaker 2: The issue, though, which is what I said earlier, was
Speaker 2: that phenolalanine sometimes took a few weeks to show up
Speaker 2: in the urine, at which point the child's brain made
Speaker 2: might already have been damaged. And so the ad event
Speaker 2: of Guthrie's test was faster. Test was huge. Within twenty
Speaker 2: four hours, you could say, oh, yes, there is like
Speaker 2: we need to implement a pheeninality restricted diet. But Guthrie,
Speaker 2: Guthrie himself came from kind of an unusual background. He
Speaker 2: was not involved, He had no background in metabolic disorders
Speaker 2: or genetic conditions. He was a microbiologist by training, okay,
Speaker 2: and he had been doing cancer research before he developed
Speaker 2: this test, So like, how how did he go from
Speaker 2: point A to point B? Well, Gothrie happened to also
Speaker 2: have a son who was intellectually disabled, and he was
Speaker 2: involved in the local chapter of what was then called
Speaker 2: the Association for Retarded Children, now called the ARC, and
Speaker 2: this is where he learned about PKU and the newly
Speaker 2: developed diet. He was talking I think to a speaker
Speaker 2: who had come and was discussing this, and he was
Speaker 2: like but at the same time, I think he had
Speaker 2: heard about the limitations of the test and was like, gosh,
Speaker 2: we could really do something. If we could have a
Speaker 2: faster test, that could be huge. Maybe there's a better way.
Speaker 2: And so he was at the time working on a
Speaker 2: bacterial inhibition essay for cancer screening, and he was like,
Speaker 2: what if I just tweaked a few things here and
Speaker 2: there and used the same thing to look for funlalanine
Speaker 2: And that's what he did. He like that was like
Speaker 2: so much, here's my idea, and here it is. It worked.
Speaker 3: I love stories like that where it's like, oh, I
Speaker 3: was working on this other thing, but I was like, huh,
Speaker 3: I wonder if I could do it for this thing,
Speaker 3: and then bing bang boom, and now you've like revolutionized
Speaker 3: people's lives people's lives.
Speaker 2: And I think it also just like goes to show
Speaker 2: sometimes that thinking outside the box, like approaching a problem
Speaker 2: as an outsider, can really open up your perspective and
Speaker 2: be like oh and everyone else is like, oh my god,
Speaker 2: the solution was there all along. I mean, I think
Speaker 2: I might be overstating this simplicity of it and like
Speaker 2: the work that he put into it, but still I
Speaker 2: think it was like a flash of insight. Yeah, And
Speaker 2: so he actually left his cancer work and took on
Speaker 2: a job at a Children's Hospital to continue his research
Speaker 2: on this.
Speaker 3: Wow, I know.
Speaker 2: And so in the midst of this work, prior to
Speaker 2: his letter to the editor, he learned also that his niece,
Speaker 2: who was severely intellectually disabled, had been diagnosed with PKU,
Speaker 2: and so that gave him even more like motivation inspiration
Speaker 2: knowing that this test could be critical in delivering time
Speaker 2: sensitive information that could prevent the effects of PKU. Yeah.
Speaker 2: So when he announced his test in nineteen sixty one,
Speaker 2: it was mostly though not entirely enthusiastically.
Speaker 3: Received sounds about right, yeah.
Speaker 2: I mean that's I feel like a like a normal reaction.
Speaker 3: Right, better than most I would say.
Speaker 2: Yeah, this was a sensitive test that could help with
Speaker 2: a diagnosis for a condition that had a very clear
Speaker 2: and effective intervention if administered immediately, a phenilalanine restricted diet.
Speaker 2: But some people, including a prominent doctor, remained vocal skeptics,
Speaker 2: saying things like oh, well, I don't think it's felinilalanine
Speaker 2: that causes brain damage, or saying like well, I don't
Speaker 2: think the diet is effective, or it might be effective
Speaker 2: and only a few and so this like led to
Speaker 2: concern that this was a costly diet that could harm
Speaker 2: or bother those who didn't need it, and also it
Speaker 2: was just like, why are you going through the effort
Speaker 2: of this if it's not going to provide a benefit.
Speaker 3: They were like, we don't feel like you know PKU
Speaker 3: well enough.
Speaker 2: Yes, I think that was one of the concerns. Or
Speaker 2: it was like this might be effective in some children
Speaker 2: with PKU, but not everyone, like this is not yeah
Speaker 2: right right, And a couple of the other complaints that
Speaker 2: were less medically focused. One was that newborn screening with socialism,
Speaker 2: you know, the boogeyman, and also that I found this
Speaker 2: one really interesting, actually that newborn screening would take focus
Speaker 2: away from social support programs for children with intellectual disabilities.
Speaker 3: That is an interesting critique.
Speaker 2: Yeah, I see where they're coming from with that, because
Speaker 2: if it's like, if we have a limited pot of
Speaker 2: money and we're now spending it on research rather than
Speaker 2: social safety like social safety net programs, then you know.
Speaker 3: You're going to take our money and you're going to
Speaker 3: shunt it over there, right, rather than yeah, yeah, yeah,
Speaker 3: I get that.
Speaker 2: I don't know if that is actually what, like, was
Speaker 2: the pot of money the same right, was it the
Speaker 2: same source? But this was also especially felt, I think
Speaker 2: because kids with PKU made up a very small proportion
Speaker 2: of all kids who had intellectual or developmental disabilities. And finally,
Speaker 2: the last complaint was that the test was not accurate
Speaker 2: enough or not specific enough, so meaning it either missed
Speaker 2: kids who had PKU or it led to false positives. Okay,
Speaker 2: false positives.
Speaker 3: We'll talk all about things like that, Aaron, Yeah, we will.
Speaker 2: Many of these objections faded away over the years as
Speaker 2: the test improved and as more data were collected on
Speaker 2: the efficacy of early intervention, but some objections remained, not
Speaker 2: just for PKU, but for other conditions newly added or
Speaker 2: proposed to be added to newborn screening programs. Because, especially
Speaker 2: as technology has allowed us to cast a wider net,
Speaker 2: first with the incorporation of tandem mass spectrometry in the
Speaker 2: nineteen nineties and now with whole genome sequencing capabilities, one
Speaker 2: major area that people have expressed concern about is privacy.
Speaker 2: How to ensure that our genetic information cannot be used
Speaker 2: without our consent, for instance, by insurance companies to discriminate
Speaker 2: against us. Right, I think that's a valid concerned Totally,
Speaker 2: Every newborn screening program has privacy policies intended to protect
Speaker 2: against this, and clear guidelines on how the information will
Speaker 2: be used, including restricting who can access it. Whether that's
Speaker 2: enough is beyond the scope of this conversation, and I
Speaker 2: think that like a legal podcast should definitely pick that up.
Speaker 2: I'd be fascinated to tune into that. And I also
Speaker 2: want to make sure that we I talk about the
Speaker 2: other considerations for newborn screening. The first is what happens
Speaker 2: if a positive test ultimately leads to a confirmed diagnosis? Right,
Speaker 2: The path forward is not always clear when it comes
Speaker 2: to treatment, you know, I think that earlier we kind
Speaker 2: of touched on this when in the criteria where we're
Speaker 2: like is there treatment right, yes or no?
Speaker 5: Right?
Speaker 2: Sometimes that answer is not obvious. So, like many of
Speaker 2: the conditions that are included in newborn screening have a
Speaker 2: range of severe and since these are rare disorders, we
Speaker 2: might not have as much data as we like for
Speaker 2: how effective some of these treatments or interventions are, especially
Speaker 2: in the long term. Sometimes deciding what to do, you know,
Speaker 2: should I do this treatment or that one? Should I
Speaker 2: do one at all? Sometimes that's not clear cut. Diagnoses
Speaker 2: can be inconclusive or intermediary. So for example, cystic fibrosis,
Speaker 2: sometimes it's like we don't know the severity based on
Speaker 2: whichever specific illeal we're data deficient in some of these situation.
Speaker 3: We have great treatments for this type and less great
Speaker 3: treatments for this type. So there's still so many questions
Speaker 3: wor yes, yeah.
Speaker 2: And this could leave parents to wonder, you know, if
Speaker 2: my child may never show symptoms, what should I be
Speaker 2: doing here?
Speaker 3: Right?
Speaker 2: And this is something absolutely that is taken into account
Speaker 2: when considering whether a condition should be included in the screening.
Speaker 3: It's almost like that's why we need people who know
Speaker 3: what they're doing to make the decisions about what we
Speaker 3: should include on the panel.
Speaker 2: Yes, yes, but we are also though, approaching an era
Speaker 2: where someone's entire genetic information could be accessed by or
Speaker 2: provided to parents. Yep, who does that information belong to?
Speaker 2: Yeap the child the parents are both like should parents
Speaker 2: be able to ask for all results even if there
Speaker 2: are no interventions or treatments?
Speaker 4: Right?
Speaker 2: Knowledge can weigh heavily.
Speaker 3: Or things that might not happen until adulthood, or maybe
Speaker 3: you're at higher risk of something as an adult but
Speaker 3: not as a child, Like what.
Speaker 2: What is a parent allowed access to that right, and
Speaker 2: so currently these are largely hypothetical concerns. We haven't quite
Speaker 2: gotten to that point with sequencing, but it's conceivable that
Speaker 2: we will have to confront them eventually.
Speaker 3: And then.
Speaker 2: There's the other scenario, what happens if a positive test
Speaker 2: positive screening test does not lead to a confirmed diagnosis,
Speaker 2: and this is very often the case. The high rates
Speaker 2: of false positives in newborn screening are a side effect
Speaker 2: of wanting to make sure that we catch every true positive,
Speaker 2: right that is, that is often how screenings go, and
Speaker 2: it is a it's not unique to newborn screening, and
Speaker 2: newborn screening is just that it is a screening. It
Speaker 2: screens for certain conditions. It's not diagnostic at all. So
Speaker 2: if someone's newborn screening is flagged for a certain condition,
Speaker 2: that that baby will undergo additional tests to confirm or
Speaker 2: reject the diagnosis, and the vast majority of the time,
Speaker 2: like I mentioned, it ends up being a false positive.
Speaker 2: But that doesn't like, that doesn't undo the financial cost
Speaker 2: of the additional testing, battling with insurance, and the enormous
Speaker 2: emotional turmoil experienced by parents during those weeks of not
Speaker 2: knowing or imagining the worst. One study also found that
Speaker 2: most doctors do not discuss newborn screening with parents before
Speaker 2: the birth. And I know that we'll tell you. There's
Speaker 2: like that, I know, and many, whether it's pediatricians or OB's,
Speaker 2: feel ill equipped to explain it. And then that's the
Speaker 2: other sort of question is like, are you getting your
Speaker 2: care from your OB? Is your who should tell you
Speaker 2: about newborn screening?
Speaker 3: Maybe you should have a family medicine doctor.
Speaker 2: I'm totally biased, but if you don't have a family
Speaker 2: medicine doctor, is your OB going to tell you? Is
Speaker 2: your pediatrician going to tell you? Are you going to
Speaker 2: see your pediatrician before you give nor?
Speaker 3: Usually not exactly. So no, it's a total It is
Speaker 3: a failure of the way that our system is set up.
Speaker 3: Is that yeah, A, there's usually not time in OBI visits,
Speaker 3: No one gets enough time in those, and B you're
Speaker 3: not probably talking about newborn stuff in your OB visits
Speaker 3: right right, And then at your pediatrician visit it's already done.
Speaker 3: So you get like you're in the hospital, you just
Speaker 3: delivered a baby, and a nurse comes in and is like, okay,
Speaker 3: we're going to do the screening or a resident comes
Speaker 3: in and it's like, okay, we're going to do the
Speaker 3: screening and you're like, oh, all what or you don't even.
Speaker 2: Know that it's happening. I asked my mom. I was like,
Speaker 2: do you remember, and she goes, oh did did did
Speaker 2: that happen? I was like, yes, it did, it did.
Speaker 2: We were all of us like it's mandatory, so it's
Speaker 2: it is a This is something that I think that
Speaker 2: that lack of communication can leave parents terrified and in
Speaker 2: the dark seeking information from doctor Google that could scare
Speaker 2: them even further. Right, newborn screening saves lives and has
Speaker 2: had a tremendously positive impact over the past sixty plus years,
Speaker 2: but these positives can make it easier to brush aside
Speaker 2: the negatives, which can be substantial for some you know
Speaker 2: better testing that reduces the false positive rate would go
Speaker 2: a long way toward alleviating some of the anxiety and fear.
Speaker 2: Not to mention the cost of additional testing and having
Speaker 2: access to genetic counseling can be hugely beneficial. Information not
Speaker 2: just about the initial counseling, additional testing, or what positive
Speaker 2: result might mean, but also what the options are if
Speaker 2: a diagnosis ends up being made. Genetic counseling is a
Speaker 2: tremendous field. We should we should talk more about it.
Speaker 3: We should be we need more genetic counselors.
Speaker 2: Yes, because unfortunately not everyone has access to a genetic counselor, so.
Speaker 3: They cannot like standard.
Speaker 2: Not it's not and so it's really easy then to
Speaker 2: get overwhelmed by the vast amount of information and misinformation
Speaker 2: out there. So again, newborn screening, though has saved the
Speaker 2: lives and improved the health of countless newborns around the globe,
Speaker 2: it is not perfect. There is room for improvement, you know,
Speaker 2: opportunities to reduce some of the harm and false positives,
Speaker 2: remove the uncertainty and what to do next for true positives,
Speaker 2: and better communicate to all parents what the screening does.
Speaker 2: But if we want to make any advancements in these areas,
Speaker 2: we need more investment in research, communication programs, and a
Speaker 2: better healthcare system overall to make sure that this powerful
Speaker 2: knowledge can continue to make a positive impact.
Speaker 3: You're saying we should invest in public health there.
Speaker 2: Always, I will never stop saying it, except now when
Speaker 2: I turn it over to you to tell me more
Speaker 2: about how newborn screening works.
Speaker 3: So then I can say it.
Speaker 2: Yes, that's your truth.
Speaker 3: I can't wait erin thank you. That was such a
Speaker 3: good setup. I love screening so much. I want to
Speaker 3: talk for just a minute about, like what is the
Speaker 3: concept of screening because we've never gotten to on this
Speaker 3: podcast before really, So, the concept of screening means that
Speaker 3: we are testing a symptomatic people like entire usually hopefully
Speaker 3: well defined populations of people. So in the case of
Speaker 3: newborn screening, we're talking about testing every single newborn for
Speaker 3: a disease or a disorder, or a suite of them,
Speaker 3: before they show any symptoms. And in medicine, we screen
Speaker 3: for so many things, like we screen everyone with a
Speaker 3: cervix for cervical cancer starting at age twenty one or
Speaker 3: twenty five. We screen every adult over forty five for
Speaker 3: colon cancer or earlier, depending on your family history. We
Speaker 3: screen for high blood pressure. You might not even know
Speaker 3: that's what we're doing. We're screening for high cholesterol, diabetes,
Speaker 3: breast cancer.
Speaker 4: Right.
Speaker 3: We are looking for evidence of a disease before you
Speaker 3: ever show any signs or symptoms of that disease, right right,
Speaker 3: So in newborn screening, we are testing all of these
Speaker 3: babies right after delivery, usually within the first twenty four
Speaker 3: to forty eight hours of life for a whole suite
Speaker 3: of disorders that they may develop later in their life.
Speaker 3: And all screening, but especially newborn screening because of the
Speaker 3: scale on which it's done, is a process, not an event,
Speaker 3: right it is.
Speaker 2: Yes, I love that process, not an event.
Speaker 3: And that process is dependent on a system that has
Speaker 3: a lot of different pieces that have to be in place.
Speaker 3: It has to start with our federal and state public
Speaker 3: health agencies deciding as a group, based on expertise, what
Speaker 3: they're screening for yep. And then there are both hospital
Speaker 3: based exams which a lot of people might not realize
Speaker 3: are even happening, like a hearing test and a congenital
Speaker 3: heart disease screen, as well as the blood test or
Speaker 3: the heel prick test, which that test has to then
Speaker 3: be shipped and analyzed in a systematic way. And then
Speaker 3: there's all of the stuff that has to happen after
Speaker 3: that test. The results have to be reported to the
Speaker 3: families and the healthcare system in which they're a part of.
Speaker 3: There's then follow up diagnostic testing that has to be
Speaker 3: coordinated and completed. There's all these additional appointments hopefully you
Speaker 3: have access to genetic counseling, there might be parental testing,
Speaker 3: and then there is some kind of treatment or intervention
Speaker 3: in order to prevent the harms of that condition for
Speaker 3: which we screened.
Speaker 2: Right, that's a lot, it's a lot.
Speaker 3: It's not a small event. No, no, no, And like
Speaker 3: I had mentioned, we think of the newborn screening test
Speaker 3: as just that blood spot test, the heel prick, but
Speaker 3: it is a lot more than that. There's like physical
Speaker 3: exam testing that is done on every single baby to
Speaker 3: look for evidence of certain conditions. There's the congenital heart disease,
Speaker 3: there's the hearing test. But the blood test is what
Speaker 3: we're going to focus on for this episode. And in
Speaker 3: that what they do, if anyone hasn't seen this happen before,
Speaker 3: they take a little teeny tiny lancet like you would
Speaker 3: use to check your blood glucose and they prick the
Speaker 3: back of the baby's heel, usually after you warm it
Speaker 3: up really good so that you've got good blood flow,
Speaker 3: and then you drop this blood onto a little filter paper.
Speaker 3: There's just these little circles. It's not like a whole vial.
Speaker 3: It's literally just like dropping it onto this paper. In
Speaker 3: these little circles that you fill up and then you
Speaker 3: let it dry and you mail it to your public
Speaker 3: health department, who usually is the ones who do the screening.
Speaker 3: And you had mentioned, Aaron, the different modalities today, we
Speaker 3: use a bunch of different modalities actually for our blood
Speaker 3: screening tests. A lot of them use mass spectrometry, some
Speaker 3: of them might use hemoglobe and electrophoresis, and then there
Speaker 3: are some genetic tests as well. It all just depends
Speaker 3: on what you're screening for, right, Yeah, And all of
Speaker 3: this screening generally happens at right around twenty four hours
Speaker 3: of life.
Speaker 2: It's a lot of information all at once, and it's
Speaker 2: just still you don't you might not even know that
Speaker 2: it's happening exactly exactly.
Speaker 3: And I'm not going to give you a list. I'm
Speaker 3: not going to go through like every single condition that
Speaker 3: we test for in the US and around the globe
Speaker 3: is not one single test. And you kind of walked
Speaker 3: us through, Aaron, how this all got started. But it
Speaker 3: was after the introduction of mass spectrometry that things really
Speaker 3: kind of ramped up. But every single state in the
Speaker 3: US manages its newborn screening program a little bit differently
Speaker 3: and has slightly different things that they have on their
Speaker 3: blood tests. So some states test for a lot more
Speaker 3: conditions and some states really just rely on that recommended
Speaker 3: Universal Screening protocol that they use to make their list essentially,
Speaker 3: and all of that is now in question. Many of
Speaker 3: the conditions that we screen for on this blood test
Speaker 3: are what we call metabolic disorders like PKU, which means
Speaker 3: that they are disorders in the way that our bodies
Speaker 3: process foods or other things that can end up leading
Speaker 3: to the accumulation of toxic byproducts or sometimes deficiencies in
Speaker 3: other acids or things like that. There are really wide
Speaker 3: range of these metabolic conditions that we can test for.
Speaker 3: It there's a lot of them on newborn screening protocols.
Speaker 3: But there's also disorders of hemoglobin right like zickle cell
Speaker 3: anemia is on most of the newborn screenings. There's diseases
Speaker 3: of the immune system, especially if they're caused by known
Speaker 3: genetic mutations like SKID for example, or severe combined immune deficiency.
Speaker 3: There's things like cystic fibrosis, can general hypothyroidism, and most
Speaker 3: across the board, these disorders without treatment, without identification and
Speaker 3: treatment can cause really significant impacts on growth. And development
Speaker 3: and in many cases can result in life threatening complications
Speaker 3: very early in life, in infancy and in childhood. And
Speaker 3: many of them have relatively straightforward treatments as far as
Speaker 3: all things in medicine go, right, like special formulas, avoidance
Speaker 3: of certain foods. Sometimes it's additional therapies or immanizations. Some
Speaker 3: might be more involved, For example, with SKID, it might
Speaker 3: be something like a bone marrow transplant, which is very
Speaker 3: involved and not a decision to be taken lightly, but
Speaker 3: potentially allows for cure of a disease.
Speaker 2: Right, yeah, curative, it's amazing. Yeah.
Speaker 3: Yeah. And so whenever we are talking about screening tests,
Speaker 3: not just newborn screening but all of the screening tests
Speaker 3: that we do in medicine, there are, like you mentioned,
Speaker 3: a lot of factors that we have to consider to
Speaker 3: decide what populations we're screening and what types of things
Speaker 3: we're screening for, and what types of tests we should
Speaker 3: use for that screening. So it was Wilson and Younger
Speaker 3: you mentioned who came up with this list of ten
Speaker 3: criteria back in the sixties, nineteen sixty eight. Yeah, yea,
Speaker 3: and those mostly hold up over time, like they're mostly
Speaker 3: the same. But I did find a more recent paper
Speaker 3: from twenty eleven that what I liked is that they
Speaker 3: really tried to take into account how much some of
Speaker 3: these ideas that we think of are going to have
Speaker 3: to change as we advance into genetic testing. Right, so
Speaker 3: there is a bit more of like an intensive framework
Speaker 3: about how to decide what we're screening for and how
Speaker 3: we're screening it.
Speaker 2: I think it's like it comes down to what is
Speaker 2: the how how much does this predict? How well does
Speaker 2: this allele this variant genetic variant predict a disease versus predisposed.
Speaker 3: Exactly exactly right. There's a lot of there's a lot
Speaker 3: of things that you have to consider, especially as you
Speaker 3: get into that genetic testing framework. But you kind of
Speaker 3: mentioned some of the biggest ones, and I want to
Speaker 3: just reiterate them, I think because they're so important. Like
Speaker 3: I guess what I'm trying to emphasize is how what
Speaker 3: is being screened for is not a flippant decision.
Speaker 2: No no, no, it's not like, hey, you know what,
Speaker 2: we've got the capacity to do all of this, Let's
Speaker 2: just do it all.
Speaker 3: Right, Let's just check everyone for everything. Like That's not
Speaker 3: how it's done.
Speaker 2: And I think that, like the the other piece of
Speaker 2: the puzzle too, is like this, there has to be
Speaker 2: individual benefit. You think, Okay, well, but if we if
Speaker 2: we don't currently have a treatment for this condition, but
Speaker 2: we if we screen for tested, than we could in
Speaker 2: the future if we if we know that these kids
Speaker 2: have it. But like that's not again, that's not what
Speaker 2: individual benefit is this kid getting if there is no
Speaker 2: existing treatment.
Speaker 3: Exactly so exactly so some of like big picture, the
Speaker 3: biggest things that we have to have in place for
Speaker 3: a disorder to be like added to a screening list.
Speaker 3: We have to have a test that is appropriate for
Speaker 3: the condition that we're looking for, okay, and for screening purposes.
Speaker 3: What that means is that we have to have something
Speaker 3: that has what you mentioned aaron a high sensitivity, which
Speaker 3: means that we want it to pick up as many
Speaker 3: cases as possible. We don't want anyone to be missed
Speaker 3: and have a a bunch of false negatives, because that
Speaker 3: means we are falsely reassuring people that you do not
Speaker 3: have this condition if we don't have a highly sensitive test.
Speaker 3: But the flip side of that is often, though not always,
Speaker 3: that screening tests can then have false positives, right, which
Speaker 3: then means that we have to have additional testing that
Speaker 3: exists that's really good and very specific to confirm a
Speaker 3: diagnosis if something is picked up on these screening tests, right.
Speaker 3: And how good a test does, like how well it
Speaker 3: actually performs, usually depends on how prevalent or how rare
Speaker 3: a disease is in the population. So we also have
Speaker 3: to consider some of the factors of the conditions themselves.
Speaker 3: Are they an individual health problem and are they a
Speaker 3: public health problem. We have to know can we do
Speaker 3: something to prevent them if we identify them early, because,
Speaker 3: like you said, it is not considered ethical to screen
Speaker 3: for something that we can't do anything about. So we
Speaker 3: have to know that these conditions exist. We can't screen
Speaker 3: for things that we don't know about yet. And they
Speaker 3: have to have some kind of asymptomatic stage where this
Speaker 3: screening can be completed. And then we have to have
Speaker 3: some kind of treatment or intervention to offer something that
Speaker 3: can actually reasonably be accessed by everyone who you're screening, right.
Speaker 3: And then, because this is public health, there's also always
Speaker 3: a cost consideration, right, Like we are going to tell
Speaker 3: you that public health investment always saves money because it
Speaker 3: does always, but the public health agencies also are going
Speaker 3: to be doing this cost analysis and then like they
Speaker 3: have to weigh what is the cost of screening the
Speaker 3: entire population plus the cost of the testing for both
Speaker 3: false positives and true positives weighed against the potential savings
Speaker 3: in medical care if we catch and treat these disease
Speaker 3: early and either cure them or prevent severe disease down
Speaker 3: the line. So all of this has to be considered
Speaker 3: when we are deciding what conditions have to be on
Speaker 3: this list to screen for or not. You need a
Speaker 3: lot of expertise and you need a lot of data, yes, yeah,
Speaker 3: And this list has been consistently updated over time as
Speaker 3: we've developed better testing or developed better treatments. A really
Speaker 3: good example of this is spinal muscular atrophy or SMA.
Speaker 3: Yeah yeah, This a treatment got approved in twenty sixteen,
Speaker 3: and before that we didn't have any treatment available for
Speaker 3: this disorder, which can be very, very detrimental. And because
Speaker 3: we now had a new treatment as of twenty sixteen,
Speaker 3: people started lobbying and recommending that this get added to
Speaker 3: the list of recommended universal screening, and it was added
Speaker 3: in twenty eighteen. It's still not on every individual states list,
Speaker 3: but it is on the RUSP.
Speaker 2: Yeah, it's amazing, Like I feel like that has been
Speaker 2: newborn screening has grown so substantially. Yeah, and like consistently,
Speaker 2: well not even consistently exponentially over the years, right, And
Speaker 2: it's evidence based.
Speaker 3: Maybe we have these.
Speaker 2: Criteria, we have reasons to include these conditions.
Speaker 3: Yeah, yeah, and all of that will change with the
Speaker 3: advent of genomic sequencing, right, yes, without a doubt. Yeah,
Speaker 3: genomic sequencing. Whole genome sequencing will and is enabling screening
Speaker 3: for a much wider range of conditions, but without substantial
Speaker 3: additional costs. Because right now, every single disorder, we have
Speaker 3: to make sure that we have a test, that that
Speaker 3: test is cost effective and like a good enough test,
Speaker 3: and then we have to decide based on the treatments
Speaker 3: and all of those other things, do we add it
Speaker 3: to this list? Can people have the capacity to add
Speaker 3: this test to their public health department? But with this
Speaker 3: switch to genomic sequencing, like the game is totally changed.
Speaker 3: And literally every recent paper in the last like five
Speaker 3: years that has been written about newborn screening is about
Speaker 3: genomics and the and this future is here. Like you said,
Speaker 3: the UK has actually already made a commitment to switching
Speaker 3: all of their newborn screening to genomics within the next
Speaker 3: ten years. So exciting this is happening. There is no
Speaker 3: going back, And like I said, in contrast to now,
Speaker 3: we won't need to do all of these different types
Speaker 3: of tests. By sequencing the entire genome of an individual,
Speaker 3: we can look for so many different diseases and disorders.
Speaker 3: As long as there is an identifiable gene associated with
Speaker 3: this condition, you could, at least in theory, add it
Speaker 3: to the list of genes that you're looking for. But
Speaker 3: those same conditions and questions that we have mentioned will
Speaker 3: also apply when we are talking about using genomics. Right,
Speaker 3: these conditions need to be identifiable, they have to have
Speaker 3: an asymptomatic stage. We should have some kind of treatment
Speaker 3: or intervention. Right, you have to have confirmatory diagnostic testing.
Speaker 3: And then, like you said, there's all of these additional
Speaker 3: questions that come with genomics, like what about all of
Speaker 3: these genes where we know there's an increased risk of
Speaker 3: disease but maybe not necessarily a disease. What about all
Speaker 3: of the rest of the data that comes by sequencing
Speaker 3: an entire genome. Who owns it? Who protects it? Who
Speaker 3: else is going to have access to that information? Do
Speaker 3: they want to know this information?
Speaker 2: How long does is it kept? How you know, like
Speaker 2: can it be reaccessed exactly if you want? You know,
Speaker 2: what's for what purposes? And so this comes with a
Speaker 2: lot of complications and a lot of potential for huge benefit.
Speaker 2: So we brought in an expert so then we don't
Speaker 2: have to tell you all about it the best part.
Speaker 3: Yes, that's right. We brought in one of the researchers
Speaker 3: who is involved in this huge project here in the
Speaker 3: US which is very exciting called the Guardian Study, which
Speaker 3: has already begun, like it's already well underway. It has
Speaker 3: been screening really large numbers of babies in New York
Speaker 3: City using genomics tools. The Guardian Study has been it's
Speaker 3: been recruiting, it still is recruiting families with newborns at
Speaker 3: New York Presbyterian Hospitals for over two hundred genes associated
Speaker 3: with specific conditions known to affect young children. Two hundred
Speaker 3: I know, from thirty eight to two hundred. Yeah, like
Speaker 3: the highest at least that I could find. I think
Speaker 3: the highest state is California with like seventy five or
Speaker 3: so conditions that are on our screening test. So this
Speaker 3: is like X or so much bigger yep. And some
Speaker 3: of these conditions that they're screening for are incredibly rare
Speaker 3: and they have had really interesting and important results already. Aarin,
Speaker 3: your other podcast that you host, Advances and Care, had
Speaker 3: a really excellent episode on the Guardian study. So can
Speaker 3: you introduce us to our interviewee.
Speaker 2: I am thrilled to yes. In that episode of Advances
Speaker 2: and Care, which was called Newborn Gene Sequencing Expanding early
Speaker 2: Detection of treatable Diseases, it's a great episode in March,
Speaker 2: a good episode, the production team everyone out, all the
Speaker 2: physician scientists amazing, just really really cool. But one of
Speaker 2: the physician scientists featured in that episode was a one
Speaker 2: doctor Josh Milner, who is Professor of Pediatrics and director
Speaker 2: of Allergy, Immunology and Rheumatology at Columbia University Medical Center,
Speaker 2: who was involved in the Guardian study. And so yes,
Speaker 2: we're we got to speak with with doctor Milner about
Speaker 2: the Guardian study and about all of these different aspects
Speaker 2: of WHLD genome sequencing and what that could mean. And
Speaker 2: also doctor Milner is part of a group of immunologists
Speaker 2: who is working to make genomic sequencing a reality for
Speaker 2: newborn screenings across the country.
Speaker 3: And his role.
Speaker 2: One of his roles involves making recommendations for which conditions
Speaker 2: to include on screening panels, and he is extremely enthusiastic
Speaker 2: about the recent efforts in the UK that you mentioned,
Speaker 2: Aaron to incorporate genomic sequencing into newborn screening and also
Speaker 2: that new NIH initiative that I mentioned at the top. Yeah,
Speaker 2: and so in our interview, doctor Milner shares some really
Speaker 2: fascinating insights about the potential offered by genomic sequencing for
Speaker 2: newborn screening and we are so excited to bring these
Speaker 2: to you.
Speaker 3: Let's go to the interview erin.
Speaker 2: Doctor Milner, thank you so much for joining us today.
Speaker 3: Thank you. We're thrilled.
Speaker 4: It's a pleasure.
Speaker 2: So so far in this episode, we've discussed how standard
Speaker 2: newborn screening works as well as the history of its development,
Speaker 2: and we are really thrilled to hear from you about
Speaker 2: what the future might hold for this important screening process,
Speaker 2: especially with the application of genome sequencing. Could you give
Speaker 2: us an overview of the Guardian study and how it's
Speaker 2: different from standard newborn screening approaches.
Speaker 4: So basically the idea of the Guardian study and generally
Speaker 4: speaking doing genomic newborn screening is that when that blood
Speaker 4: spot is taken from the heel, usually of a newborn baby,
Speaker 4: that the DNA be extracted and sent for sequencing for
Speaker 4: genes that might impact health. It's still the same sample
Speaker 4: and it's the same process of sending it off to screen.
Speaker 4: But when you do something like whole genome sequencing, where
Speaker 4: you're getting the genetic code for the entire person, you
Speaker 4: actually can look for many many more disorders where if
Speaker 4: you have a what we call a variation which used
Speaker 4: to be called a mutation in a particular gene that
Speaker 4: is known to cause a disease, that that can actually
Speaker 4: be ascertained within the first few weeks of life. And
Speaker 4: what everyone does is essentially picks only genes where if
Speaker 4: you found a variation in that gene that there would
Speaker 4: be something you could do about it to prevent or
Speaker 4: cure the disease. And so there are hundreds and hundreds
Speaker 4: of such genes on our list, and it's a constantly
Speaker 4: evolving process of can we now there's something to do
Speaker 4: for this particular disorder, Oh, now we know, actually this
Speaker 4: is a new genetic problem, but it already comes with
Speaker 4: something you could do about it. And then, at least
Speaker 4: in the study the way that it's been done right now,
Speaker 4: some of the genes do encode for the problem that
Speaker 4: you might pick up with the regular newborn screen that
Speaker 4: we already have, so those can be compared to make
Speaker 4: sure that the genetic strategy does not miss anything. But
Speaker 4: it also can actually even help clarify where you're like, well,
Speaker 4: I'm not sure why this particular problem came up on
Speaker 4: the regular newborn screen, but the genetic testing told me
Speaker 4: exactly what it was. More often than not, though, the
Speaker 4: genetic testing finds something that couldn't be tested with the
Speaker 4: regular newborn screen. The thing about the genetic testing is
Speaker 4: every time you make a list of the genes that
Speaker 4: you want to be screening for mutations or variations, it
Speaker 4: doesn't cost anymore. It's just, you know, it's the same analysis.
Speaker 4: Whereas with the regular newborn screening, every single new disease
Speaker 4: that you're trying to screen for you have to make
Speaker 4: a new test. It's an extra cost. The development of
Speaker 4: that test is very very difficult, and essentially you have
Speaker 4: to make the case that it's good for public health
Speaker 4: to be screening for something that's one in a million, right.
Speaker 2: Right, So it's using the same logic really as standard
Speaker 2: newborn screening, but you're leveraging this genomic sequencing technology, so
Speaker 2: you're able to cast an even wider net than standard
Speaker 2: newborn approaches.
Speaker 3: Screening approaches, a much wider net from like a parent's perspective,
Speaker 3: especially maybe someone who doesn't really have a medical background.
Speaker 3: How would this process of maybe being involved in the
Speaker 3: Guardian study or doing like a genomic screening on your newborn,
Speaker 3: how would that be different from a parent's perspective than
Speaker 3: just standard screening.
Speaker 4: So again, a lot of the same follow up sort
Speaker 4: of happens. You get called back. You might have something
Speaker 4: we need to bring you back to see. We have
Speaker 4: a different type of a test to check to see
Speaker 4: if indeed this is a problem. Now, sometimes that different
Speaker 4: type of test might be a genetic test, right, because
Speaker 4: it's a different type of a test that says that, yes,
Speaker 4: this biochemical problem was there. Usually though it's a different
Speaker 4: you know, So for an immune deficiency, you know, we
Speaker 4: would look for cells in the immune system to see
Speaker 4: if they're missing.
Speaker 1: Or they're not missing or something like that.
Speaker 4: Right, so you you'd have to come in for another
Speaker 4: test and during that time, you know, that is fraught
Speaker 4: because we're not saying definitively that we know that there's
Speaker 4: an issue, but this is the way that we're going
Speaker 4: to find out is with this extra task and that
Speaker 4: test might take DAR two or three you know, to
Speaker 4: come back, and that of course is you know, can
Speaker 4: be trying. Although you know that's not terribly different than
Speaker 4: what has already done with the regular newborn screen.
Speaker 2: And I'm wondering if there are any stories that you
Speaker 2: can share of children whose genetic condition was detected using
Speaker 2: this genomic screening in Guardian after being missed by traditional methods.
Speaker 4: There actually are several stories with a similar theme, which
Speaker 4: is again my specialty is in genetic diseases of the
Speaker 4: immune system, and so we have a huge number, huge
Speaker 4: number of these that we've already put into Guardian, and
Speaker 4: many more which we are hoping to incorporate into Guardian,
Speaker 4: just because we know that many of these are actionable
Speaker 4: right in some way or the other.
Speaker 5: There's one of the cases that we saw was of
Speaker 5: a boy who had a genetic mutation that was associated
Speaker 5: with severe combined immune deficiency.
Speaker 4: The boy in the bubble, okay, and the boy in
Speaker 4: the bubble couldn't get that bow Mara transplant to work
Speaker 4: because he was already sick and older. But we do
Speaker 4: know ninety plus percent of babies who are transplanted before
Speaker 4: they get sick, usually before three months of age, and
Speaker 4: will have lifetime survival cure, right, which is incredible. Otherwise
Speaker 4: there are life threading infections which can happen. Once those
Speaker 4: infections happen, the survival drops substantially. We are able to
Speaker 4: keep people alive much more than the boy in the
Speaker 4: bubble was found without having to keep them in a bubble,
Speaker 4: but it's still they must get a transplant to be
Speaker 4: to be cured. In this particular case, the variant that
Speaker 4: we found had been seen in two other people, both
Speaker 4: of whom did not have early on set infections. It
Speaker 4: happened later and and so not surprisingly, we do have
Speaker 4: a screen in that chemical screen, there's there's a screen
Speaker 4: for severe one version of severe combined immune deficiency that
Speaker 4: did not pick up did not pick up this problem
Speaker 4: in this in this boy, and so you know, there
Speaker 4: the parents were We're told this is the story and
Speaker 4: the mom said, let's fix this as soon as we
Speaker 4: possibly can. The sibling was a matched donor, went to
Speaker 4: school the day after whatever after being a phone marrow donor.
Speaker 4: And what did you do? Uh last week? Oh, I
Speaker 4: saved my brother's wife and and and that was what
Speaker 4: you know, the young sibling said about this this child, Uh, yeah,
Speaker 4: he's doing great.
Speaker 3: What a doing right now?
Speaker 2: He'll never know that.
Speaker 4: He was sick. But the parents, you know, are quite
Speaker 4: thrilled that this was found.
Speaker 2: Yeah.
Speaker 3: How does it feel for you, you know, as a researcher,
Speaker 3: as a clinician, to be involved in this kind of work.
Speaker 4: I'm trying to think of the best way to put it.
Speaker 4: I can't get enough of it. We need to be
Speaker 4: moving at light speed here because there literally are kids
Speaker 4: who are being born where there is something to actually capture,
Speaker 4: right and to do something about, not even as you know, Oh,
Speaker 4: maybe this may be that there are people with concrete things.
Speaker 4: There are people who are in the hospital now where
Speaker 4: if we had screened them, they wouldn't be in the
Speaker 4: hospital now, right. I just feel an urgency, I guess,
Speaker 4: is the best way to put it. To try to
Speaker 4: get this implemented as widely as possible, and to be
Speaker 4: doing all that work to fill up the things that
Speaker 4: can be treated and have those treatments ready right, to
Speaker 4: fill up the list, you know, to to say these
Speaker 4: are things that we can do. And then also where
Speaker 4: it is more ethically difficult, that we start confronting those
Speaker 4: questions in advance so that we are we are able
Speaker 4: to move forward with a regular standard of care for
Speaker 4: for these types of things. There's a whole separate question
Speaker 4: about if you know about a syndrome that can't be
Speaker 4: treated right right, right right, That's a.
Speaker 2: Separate, separate question, a separate question.
Speaker 4: Yeah, but a question that might make it a little
Speaker 4: bit tricky as well. Are there somewhere we do want
Speaker 4: to know so that someone's working on it to find
Speaker 4: that right And and there may be ways of doing
Speaker 4: that type of a thing where you anonymize the medical
Speaker 4: records and the and the sequences. And that allows researchers
Speaker 4: like me to go into databases like that and say, okay, listen,
Speaker 4: I'm studying this particular gene or this particular variant. What
Speaker 4: what has this resulted in your in your database? And
Speaker 4: then now I could start working on you know, understand
Speaker 4: why that gene causes a problem, right, and and actually
Speaker 4: then start working on a cure. So we need to
Speaker 4: have systems ready to do things like that.
Speaker 2: Yeah, it's I mean, and it sounds like there are
Speaker 2: so many different avenues for the wider application of the
Speaker 2: type of screening that Guardian is doing, and then these
Speaker 2: you know, ethical considerations as you discussed, and then just
Speaker 2: research opportunities. I mean, there is It seems like we're
Speaker 2: really on or maybe even over the threshold of where
Speaker 2: genome sequencing will provide so many answers and also invite
Speaker 2: more questions. And this was just such a fascinating conversation
Speaker 2: and we really just can't thank you enough for taking
Speaker 2: the time to chat with us today.
Speaker 3: Yeah, thank you so much.
Speaker 4: It was a pleasure.
Speaker 2: Thank you again so much to doctor Milner for taking
Speaker 2: the time to chat with us about the future of
Speaker 2: newborn screening and the Guardian project. I just I love it. Yeah,
Speaker 2: so again, if you would like to know more about
Speaker 2: whole genome sequencing and Guardian, there's a great episode of
Speaker 2: Advances and Care and also all of the episodes are amazing,
Speaker 2: but this episode is called Newborn gene Sequencing, expanding early
Speaker 2: detection of treatable diseases again. It was released in March.
Speaker 2: It has some great information about about what this work
Speaker 2: has accomplished so far, which is a lot.
Speaker 3: I love it.
Speaker 2: I love it. Yeah.
Speaker 3: Well, if you also just want to know more by reading,
Speaker 3: we have a list of sources for Youah.
Speaker 2: We do, we do. I have a bunch of different papers.
Speaker 2: I'm gonna shout out three here. One is by Holtzmid
Speaker 2: and Watson from nineteen ninety seven called Effective Genetic Testing
Speaker 2: in the United States, Final Report of the Task Force
Speaker 2: on Genetic Testing, and this was where I got a
Speaker 2: lot of the history of newborn screening. And by slusec
Speaker 2: at All from twenty twenty two, Psychosocial Issues related to
Speaker 2: Newborn Screening, A Systematic Review and Synthesis, and then finally
Speaker 2: by mccandalis and Wright twenty nineteen, Mandatory Newborn Screening in
Speaker 2: the US, History, Current Status, and Existential Challenges.
Speaker 3: Aaron I also read that Psychosocial Issues one. I really
Speaker 3: liked that paper. Yeah yeah, I didn't talk about it
Speaker 3: because I felt like you did such a good job.
Speaker 3: But that's on my list too. I also have a
Speaker 3: bunch of papers just about, like you know, newborn screen
Speaker 3: I mean. One was called an overview of newborn screening.
Speaker 3: It doesn't get more straightforward than that. That was from
Speaker 3: twenty ten by Levy. There was also newborn screening from
Speaker 3: Clinics and parent Aetology twenty fifteen. I have a few though,
Speaker 3: like newer ones about the whole genome sequencing aspect of it.
Speaker 3: And then I also have a link to if you
Speaker 3: want to know you like, in your state, what are
Speaker 3: they testing for? You can go to babies First test
Speaker 3: dot org and they have a list of state by state.
Speaker 3: You can look up your state, figure out what they're
Speaker 3: testing for and all of that kind of stuff, which
Speaker 3: is great, and there is lots more there on our
Speaker 3: website This podcast will Kill You dot com under the
Speaker 3: episodes tab check it out.
Speaker 2: A big thank you again to the guests that were
Speaker 2: featured in this episode. Jessica your first hand account, thank you,
Speaker 2: thank you, and doctor Milner again, thanks for taking the
Speaker 2: time and providing such important context for this really amazing technology.
Speaker 3: Yeah, thank you, thank you so much. Thank you also
Speaker 3: to Bloodmobile for providing the music for this episode and
Speaker 3: every single one of our episodes.
Speaker 2: Seriously, seriously, seriously, thanks Dan. Thank you also to Tom
Speaker 2: and Leanna and Brent and Pete and Jess and Mike
Speaker 2: and everyone who is involved at exactly right and helping
Speaker 2: make this podcast happen.
Speaker 3: Thank you. We couldn't do it without you quite literally
Speaker 3: literally thank you. I mean to you at all. If
Speaker 3: you're listening still, I can't believe that you listened all
Speaker 3: the way to the end. That's wild. I thank you
Speaker 3: for doing that. And if you're watching, thank you for
Speaker 3: doing more.
Speaker 2: Van A White hands tell this is why I don't
Speaker 2: have a job as Vana White.
Speaker 3: But thank you so much for listening and watching, and
Speaker 3: especially to our patrons for your support. It really doesn't
Speaker 3: mean to watch us, even though I am being ridiculous
Speaker 3: right now. I love it.
Speaker 2: I love it well.
Speaker 6: Until next time, wash your hands, you filthy animals.
Speaker 2: Um um