WEBVTT - Ep 189 Newborn screening: The future is here 0:00:00.120 --> 0:00:04.120 Hello. My name is Jessica. My second baby, Max, was 0:00:04.120 --> 0:00:06.640 born on my thirty eighth birthday in twenty twenty five. 0:00:07.280 --> 0:00:10.160 Max has one older sister, and both of my pregnancies 0:00:10.200 --> 0:00:13.640 were pretty normal. Because I was considered to be of 0:00:13.680 --> 0:00:17.320 advanced maternal age, we were offered genetic testing each time. 0:00:18.000 --> 0:00:19.800 We were able to find out the sex of our 0:00:19.840 --> 0:00:22.680 babies very early because of this, and we held our 0:00:22.720 --> 0:00:26.240 breath through each round of waiting for the other results. Luckily, 0:00:26.320 --> 0:00:30.640 no abnormalities were ever found. I had a scheduled sea 0:00:30.680 --> 0:00:32.800 section at thirty nine weeks and I was in the 0:00:32.800 --> 0:00:36.120 hospital for four days but doing really well healing and 0:00:36.200 --> 0:00:42.400 nursing Max. Doctors, nurses, pediatricians, and lactations specialists were all 0:00:42.440 --> 0:00:44.800 in and out of my room from the hospital and 0:00:44.920 --> 0:00:48.199 from my own insurance company. I felt like Max and 0:00:48.200 --> 0:00:50.440 I were very well taken care of and watched over 0:00:50.560 --> 0:00:54.880 during our hospital's stay. On day three, a pediatrician came 0:00:54.920 --> 0:00:57.960 into our room and sat down. As soon as she did, 0:00:58.000 --> 0:01:01.240 it felt like something was wrong. She began explaining that 0:01:01.280 --> 0:01:04.560 Max was given a newborn screening at twenty four hours old. 0:01:05.360 --> 0:01:08.240 She explained that newborn screenings are a series of tests 0:01:08.280 --> 0:01:13.120 given to babies in order to identify certain metabolic, endocrine, 0:01:13.200 --> 0:01:18.560 and hemoglobin disorders. These conditions are serious, but many are 0:01:18.600 --> 0:01:21.280 treatable if they are detected early in a child's life. 0:01:22.160 --> 0:01:24.960 She told us that Max had tested positive for a 0:01:25.000 --> 0:01:31.920 condition called phenyl kitenoria or PKU for short. She explained 0:01:31.920 --> 0:01:35.120 that in very rare cases, a person's body cannot process 0:01:35.200 --> 0:01:39.040 one specific amino acid that is found in protein. In 0:01:39.080 --> 0:01:43.280 these people, the amino acid, phenylalanine, builds up in the 0:01:43.319 --> 0:01:47.120 blood and can cause brain damage and severe developmental problems 0:01:47.200 --> 0:01:50.480 if the condition is not treated. She told us that 0:01:50.520 --> 0:01:55.080 a repeat test would be performed because false positives can occur. However, 0:01:55.160 --> 0:01:57.760 she let us know that Max's results were so high 0:01:58.080 --> 0:02:00.400 she really didn't need to give that second test to 0:02:00.480 --> 0:02:04.680 confidently say he had PKU. She also told us that 0:02:04.720 --> 0:02:07.560 she had never seen a newborn screening come back positive 0:02:07.640 --> 0:02:11.520 for PKU, and that it was very very rare. My 0:02:11.639 --> 0:02:14.359 husband and I both had to be carriers, and any 0:02:14.440 --> 0:02:17.240 children we had would then need to receive a recessive 0:02:17.280 --> 0:02:20.520 gene from each of us for the disorder to manifest 0:02:20.600 --> 0:02:24.000 in them. She asked about our first daughter, who would 0:02:24.000 --> 0:02:26.760 have also been given a newborn screening, but we were 0:02:26.760 --> 0:02:29.360 not informed about any results with her, so it was 0:02:29.360 --> 0:02:33.360 safe to say she did not have PKU. I was 0:02:33.400 --> 0:02:36.520 hearing the pediatrician's words and I can reflect back on 0:02:36.560 --> 0:02:39.240 them now, but mostly I remember a blur of not 0:02:39.360 --> 0:02:44.680 understanding what was going to happen to my baby. Sorry, 0:02:45.280 --> 0:02:47.320 I know. I cried for a good amount of time 0:02:47.639 --> 0:02:50.760 before finally managing to ask her what life would look 0:02:50.840 --> 0:02:55.079 like for Max. The part about protein poisoning his brain 0:02:55.400 --> 0:02:59.640 and severe disabilities played on repeat in my mind. Luckily, 0:02:59.680 --> 0:03:02.919 for us, PKU is manageable with a very strict diet 0:03:03.040 --> 0:03:06.760 and medical formula. I could talk on and on about 0:03:06.760 --> 0:03:10.440 our experience with PKU and the low protein world that 0:03:10.520 --> 0:03:13.200 I never knew existed before this, but I will stay 0:03:13.200 --> 0:03:18.200 focused on newborn screening for this episode. Max just turned 0:03:18.240 --> 0:03:21.440 six months old and we are starting to introduce foods. 0:03:22.080 --> 0:03:24.600 He gets to eat almost all fruits because they have 0:03:24.800 --> 0:03:29.079 very little protein, and a specific list of low protein vegetables. 0:03:29.680 --> 0:03:33.720 Eventually he will get to eat some medical foods that 0:03:33.840 --> 0:03:38.240 have the fee removed from them, like rice and pasta. 0:03:39.200 --> 0:03:42.400 He is closely monitored with weekly heel pricks to test 0:03:42.440 --> 0:03:45.640 the level of feet in his blood. By his pediatrician, 0:03:45.960 --> 0:03:49.520 who had not encountered PKU since medical school, but has 0:03:49.560 --> 0:03:52.680 done an amazing job of research and reaching out to experts, 0:03:53.160 --> 0:03:56.280 and by our wonderful genetics team at Emory. Right here 0:03:56.320 --> 0:04:03.920 in Atlanta. Max is thriving and hitting every single milestone. 0:04:05.040 --> 0:04:08.120 He's even beaten his sister to some because she was 0:04:08.160 --> 0:04:12.640 a very late roller. However, absolutely none of this would 0:04:12.680 --> 0:04:15.760 have been possible if we had not caught this disorder 0:04:15.800 --> 0:04:19.120 as early as we did with a newborn screaming. I 0:04:19.160 --> 0:04:21.960 will never be able to express how grateful and privileged 0:04:22.000 --> 0:04:24.400 I am to live in a place and in a 0:04:24.520 --> 0:04:27.680 time where newborn screaming is the norm. If we were 0:04:27.720 --> 0:04:30.520 in another country, or if Max had been born sixty 0:04:30.600 --> 0:04:34.799 years ago, his life and ours would look completely different. 0:05:21.680 --> 0:05:24.480 Jessica, thank you, thank you so much for sharing your 0:05:24.520 --> 0:05:27.560 story with us. It is so meaningful. I feel like 0:05:27.600 --> 0:05:32.159 to hear firsthand the experiences of someone who is like 0:05:32.279 --> 0:05:34.799 this information completely changed my life. 0:05:35.080 --> 0:05:39.159 Yeah yeah, it's really truly incredible and powerful and something 0:05:39.200 --> 0:05:43.120 that we could never express without your help. So thank 0:05:43.160 --> 0:05:45.640 you so much for sharing yours and your family story. 0:05:45.720 --> 0:05:48.400 And we're so glad that things are going well. 0:05:48.680 --> 0:05:53.160 Yeah yeah, Hi, I'm Aaron Welsh and I'm Aaron Amman Updike, 0:05:53.400 --> 0:05:55.479 and this is this podcast will kill you. 0:05:55.839 --> 0:05:59.360 Welcome to Newborn Screening. To Newborn Screening. I don't know 0:05:59.360 --> 0:06:02.000 why I did. And white Hands, I liked that. 0:06:02.200 --> 0:06:04.560 I would like you to do more of that throughout 0:06:04.560 --> 0:06:08.120 the rest of our show. Thank you, thank you. I'm 0:06:08.160 --> 0:06:11.640 really excited for this episode, Erin, because I feel like 0:06:11.920 --> 0:06:16.480 it we talk a lot about individual things that are 0:06:16.600 --> 0:06:22.520 you know, individual conditions or medications or organs, gallbladder. But 0:06:22.680 --> 0:06:26.160 I feel like this has been a really interesting experience 0:06:26.160 --> 0:06:30.200 to learn about a screening, right, not like a diagnostic test, 0:06:30.200 --> 0:06:33.279 but like the process of screening and all of the 0:06:33.920 --> 0:06:38.560 good and weird and bad and you know, gray areas 0:06:38.839 --> 0:06:39.720 that come with it. 0:06:40.040 --> 0:06:43.719 I also am biased, but screening is one of my 0:06:43.720 --> 0:06:44.520 favorite things. 0:06:44.600 --> 0:06:47.039 Like, yeah, it's amazing, it's. 0:06:46.880 --> 0:06:49.120 So incredible, and I love it so much, and we'll 0:06:49.120 --> 0:06:51.920 get to talk so much about it today. But yeah, 0:06:51.960 --> 0:06:55.720 and I love newborn screening specifically, So I'm I'm really 0:06:55.760 --> 0:06:57.039 excited about this episode. 0:06:57.320 --> 0:07:01.440 Yes, I'm also excited that we have a very special 0:07:01.440 --> 0:07:03.360 guest that we're going to be bringing on later, so 0:07:03.720 --> 0:07:07.760 stay tuned. Someone who's like literally an expert on the 0:07:07.800 --> 0:07:10.840 ground developing the future. The future is now, and the 0:07:10.880 --> 0:07:12.640 future of newborn screening is. 0:07:12.600 --> 0:07:15.600 Now is now and they're doing it. So yeah, kind 0:07:15.640 --> 0:07:16.240 of a big deal. 0:07:16.440 --> 0:07:18.400 But we will get to that in a bit. 0:07:18.880 --> 0:07:21.440 First, it is it's quarantiney time. 0:07:21.680 --> 0:07:23.520 It is Aaron. What are we drinking this week? 0:07:23.600 --> 0:07:27.400 We're drinking a drop of knowledge. We are the drop 0:07:27.440 --> 0:07:29.840 of blood in that. We don't need to explain it 0:07:29.880 --> 0:07:31.160 every time, do we. 0:07:31.160 --> 0:07:35.400 We don't. We'll get to it. It's a drop of blood, yeah, okay, okay, 0:07:35.880 --> 0:07:38.960 a drop of knowledge though, like the drink and drink. 0:07:39.720 --> 0:07:41.920 I was at a deli the other day and I 0:07:41.960 --> 0:07:44.720 saw that, you know, like the I think it's Doctor 0:07:44.720 --> 0:07:46.160 Brown's celery soda. 0:07:46.280 --> 0:07:47.920 Yeah, I don't. I don't know what that is, but 0:07:48.000 --> 0:07:49.200 I love the idea of it. 0:07:49.240 --> 0:07:51.320 I feel like you would love this. It's so good. 0:07:51.440 --> 0:07:55.200 It's celery flavored soda, which sounds weird and maybe not good, 0:07:55.240 --> 0:07:57.840 but it's actually delicious. And I thought, what would make 0:07:57.960 --> 0:08:00.920 a good cocktail with this? May be a little bit 0:08:01.000 --> 0:08:04.360 of a drop of lemon juice and if you would 0:08:04.440 --> 0:08:05.320 like some gin. 0:08:05.440 --> 0:08:07.920 If you'd like, if you'd like, why not, we'll post 0:08:07.960 --> 0:08:10.280 the full recipe on our website. This podcast willill you. 0:08:10.440 --> 0:08:12.760 You know, we actually haven't been posting it on the website. 0:08:13.080 --> 0:08:14.920 I know, I need to figure I don't know how 0:08:14.920 --> 0:08:16.360 to do the embedded videos. 0:08:16.560 --> 0:08:19.720 Yeah, I know that it's a simple Google listen. They 0:08:20.120 --> 0:08:22.240 they do get posted on all of our social media. 0:08:22.320 --> 0:08:26.040 I can't do so. 0:08:24.720 --> 0:08:28.280 Check it out here following us there, but on our website. 0:08:28.360 --> 0:08:31.360 Even though we might not yet have Quarantini and plasy 0:08:31.400 --> 0:08:34.720 Barta videos up there, we do have lots of other things. 0:08:34.760 --> 0:08:39.000 We've got transcripts, We've got links to merch to bookshop 0:08:39.000 --> 0:08:42.160 dot org, affiliate page, to our Goodreads list, to music 0:08:42.200 --> 0:08:45.880 by Bloodmobile. We've got a contact us form, so if 0:08:45.920 --> 0:08:48.640 you have any thoughts or episode suggestions, that's where you 0:08:48.760 --> 0:08:50.600 do it. And then we've got a first hand account 0:08:50.679 --> 0:08:52.880 form if you have a story of yours that you 0:08:52.920 --> 0:08:55.800 would like to share. We probably have other things too, 0:08:56.320 --> 0:08:57.240 So check out. 0:08:57.080 --> 0:08:59.600 This podcast would Kill You dot com. While you're on 0:08:59.679 --> 0:09:02.640 the in you can also check and make sure that 0:09:02.679 --> 0:09:07.560 you are subscribed to the podcatcher that you enjoy or 0:09:08.080 --> 0:09:10.679 the exactly Right YouTube channel, where you can also find 0:09:11.080 --> 0:09:15.680 video versions of my van a White hands worth It 0:09:15.760 --> 0:09:18.240 and that's why we do it, why we do what 0:09:18.280 --> 0:09:24.840 we do. The end, Aaron, can you tell us we're 0:09:24.840 --> 0:09:27.120 doing this a little out of order? Can you tell 0:09:27.200 --> 0:09:30.240 us about the history of newborn screening, because I know 0:09:30.320 --> 0:09:31.040 it's a good one. 0:09:31.280 --> 0:09:31.640 It is. 0:09:31.760 --> 0:09:33.840 Yeah, let's take a quick break and I'll tell you 0:09:34.000 --> 0:09:54.000 all about it. In the sixty years since the first 0:09:54.160 --> 0:09:59.040 newborn screening program began, these screenings have prevented death and 0:09:59.120 --> 0:10:03.960 disability in countless children across the globe, making it one 0:10:03.960 --> 0:10:07.480 of the greatest public health achievements of the twentieth century, 0:10:07.600 --> 0:10:13.240 alongside some of our other favorites like antibiotics, vaccine, fluoride, 0:10:13.600 --> 0:10:16.600 and seat belts, which we should do an episode on 0:10:16.679 --> 0:10:17.560 seat belts. 0:10:17.840 --> 0:10:20.280 I've never thought of doing an episode on seat belts, 0:10:20.320 --> 0:10:23.080 but I bet there's an interesting history there. Eric, Yes, okay, 0:10:23.120 --> 0:10:25.440 I'm adding it to the List's like a new episode 0:10:25.440 --> 0:10:26.520 that I get to learn about. 0:10:27.160 --> 0:10:28.760 I feel like there will be a lot that you 0:10:28.840 --> 0:10:30.400 will tell me about seatbelts. 0:10:30.400 --> 0:10:32.600 I'd have to learn about forces and physics and that 0:10:32.640 --> 0:10:33.480 sounds No. 0:10:33.440 --> 0:10:38.760 We don't have to do that, okay, or crash test dummies. 0:10:38.360 --> 0:10:43.040 Anyway, Yeah, okay, anyways, Yeah, going back to newborn screening. 0:10:43.400 --> 0:10:47.080 With one just one drop of blood, we can screen 0:10:47.240 --> 0:10:51.120 a newborn baby for dozens of conditions that we can 0:10:51.200 --> 0:10:54.280 treat or provide some other medical intervention for. 0:10:54.800 --> 0:10:57.480 It is like more than one actual drop, but like 0:10:57.559 --> 0:10:58.880 it's very few drops. 0:10:59.080 --> 0:11:02.480 It's a figurative. It could be one drop if it's 0:11:02.480 --> 0:11:08.080 a larger drop. Yeah, anyway, So, but children who end 0:11:08.160 --> 0:11:11.120 up receiving a diagnosis for one of these disorders are 0:11:11.640 --> 0:11:16.040 now given opportunities that simply were not available at any 0:11:16.080 --> 0:11:20.680 other point in human history. Newborn screening has grown steadily 0:11:21.000 --> 0:11:24.439 over those past sixty years as our technology allows us 0:11:24.440 --> 0:11:27.400 to cast a wider and wider net. In the early 0:11:27.520 --> 0:11:29.880 years of newborn screening, you'd find just like one or 0:11:29.920 --> 0:11:34.320 two disorders on the panel. Now dozens, There are dozens 0:11:34.840 --> 0:11:39.400 soon it could be hundreds and soon meaning like very soon, 0:11:39.880 --> 0:11:43.680 like kind of now. For some people, the enormity of 0:11:43.840 --> 0:11:48.400 information that is contained in that tiny drop or large drop, 0:11:48.520 --> 0:11:53.720 multiple drops, is staggering, and we are just now starting 0:11:53.760 --> 0:11:59.040 to realize it's full potential with whole genome sequencing, which 0:11:59.080 --> 0:12:05.040 is both excited and overwhelming, because determining whether a disorder 0:12:05.120 --> 0:12:07.320 should be included on the panel that can be tricky 0:12:07.360 --> 0:12:11.920 to navigate, and it involves weighing things like treatment options, 0:12:11.960 --> 0:12:15.359 the feasibility of screening, and the potential benefit to the individual, 0:12:15.520 --> 0:12:18.000 among other considerations. And I know that later on we'll 0:12:18.000 --> 0:12:21.480 talk more about the Wilson and Younger criteria, right totally, 0:12:22.120 --> 0:12:25.360 But going through that process for each and every condition 0:12:25.480 --> 0:12:27.880 that we have the ability to screen for, that takes 0:12:28.000 --> 0:12:33.960 an enormous amount of time, resources, and combined expertise. But 0:12:34.200 --> 0:12:38.400 it is necessary to ensure that we are utilizing newborn 0:12:38.480 --> 0:12:44.160 screening to achieve the greatest benefit and equitability Here in 0:12:44.200 --> 0:12:48.599 the US. Currently, we have a standardized list of disorders 0:12:48.600 --> 0:12:51.960 that all states are recommended to include in their newborn screening. 0:12:52.920 --> 0:12:57.439 It's called the Recommended Uniform Screening Panel or our USP, 0:12:57.880 --> 0:13:02.080 and it includes thirty eight core and twenty six secondary disorders. 0:13:03.000 --> 0:13:06.280 Two main bodies are involved in the decision making process 0:13:06.400 --> 0:13:12.000 for the RUSP. There's the Head of HHS and there's 0:13:12.360 --> 0:13:18.239 the Advisory Committee Inheritable Disorders in Newborns and Children. Ultimately, 0:13:18.600 --> 0:13:21.000 it's up to each state which disorders they screen for, 0:13:21.160 --> 0:13:23.440 but all have at least those core ones that I 0:13:23.520 --> 0:13:24.600 mentioned on their panel. 0:13:24.840 --> 0:13:28.679 Right, It's like the Recommended minimum, yes, yeah, and that, 0:13:28.880 --> 0:13:31.480 but that wasn't always the case, right, So, like before 0:13:32.240 --> 0:13:33.160 two thousand. 0:13:32.840 --> 0:13:37.040 And three, which is not that long ago, that is 0:13:37.160 --> 0:13:40.040 when the which is when the committee was unofficially formed. 0:13:40.040 --> 0:13:42.080 It was later like formalized in two thousand and eight, 0:13:42.160 --> 0:13:44.959 but before two thousand and three, some states maybe screen 0:13:45.080 --> 0:13:48.320 for just a handful of disorders while others had upwards 0:13:48.360 --> 0:13:51.120 of fifty on their list, and so that made newborn 0:13:51.160 --> 0:13:56.160 screening like quite uneven across the US. And so since 0:13:56.200 --> 0:13:58.640 its creation, one of the major things that the RUSP 0:13:58.760 --> 0:14:02.199 has done has been to newborn screening much more equitable 0:14:02.600 --> 0:14:07.080 across these states. And it has also provided and especially 0:14:07.160 --> 0:14:11.520 vital service as testing technology has advanced so very rapidly 0:14:12.040 --> 0:14:14.760 to like a mind boggling degree, right, So, like now 0:14:14.800 --> 0:14:18.960 we have whole genome sequencing on the very very near horizon, right, 0:14:19.520 --> 0:14:22.720 and we need to be prepared for how to handle 0:14:22.760 --> 0:14:26.600 this massive influx of information because if we could incorporate 0:14:26.840 --> 0:14:32.160 whole genome sequencing to newborn screening, which spoilers we are doing, 0:14:33.160 --> 0:14:36.520 our screening capacity will expand enormously. 0:14:36.680 --> 0:14:38.360 Oh, it totally changes the game. 0:14:38.400 --> 0:14:45.000 Totally, totally. Unfortunately, unfortunately, in April of this year twenty 0:14:45.040 --> 0:14:48.640 twenty five, the Department of Health and Human Services, headed 0:14:48.680 --> 0:14:53.200 by Robert F. Kennedy Junior, the one and only dissolved 0:14:53.960 --> 0:14:57.360 the Advisory Committee on Heritable Disorders in Newborn's and Children. 0:14:57.440 --> 0:15:02.040 This is the committee that weighs in on the RUSP. Yeah, 0:15:02.840 --> 0:15:06.600 the decision was quietly announced just a few weeks just 0:15:06.640 --> 0:15:08.960 a few weeks before the committee was set to evaluate 0:15:09.000 --> 0:15:12.640 two new conditions for screening so metachromatic leco dystrophy and 0:15:12.720 --> 0:15:17.720 Dusche muscular dystrophy. And so far no formal announcement has 0:15:17.800 --> 0:15:21.240 been made regarding whether this committee will be reinstated in 0:15:21.280 --> 0:15:24.560 some form or another and if those conditions will be 0:15:24.640 --> 0:15:29.760 added to the RUSP, which is hugely disappointing to say 0:15:29.760 --> 0:15:32.560 the least, I think for these advocacy groups, the medical 0:15:32.600 --> 0:15:35.680 practitioners and researchers who have worked so very hard to 0:15:35.800 --> 0:15:39.000 nominate these conditions for inclusion, to get them on the 0:15:39.080 --> 0:15:39.880 possible list. 0:15:40.040 --> 0:15:42.800 It's especially just so depressing to think about how so 0:15:43.000 --> 0:15:46.160 many of the advocates for every one of these disorders 0:15:46.160 --> 0:15:49.360 that ends up being added to the RUSP are parents 0:15:49.440 --> 0:15:53.680 of kids whose diagnoses weren't caught because these things are 0:15:53.800 --> 0:15:57.320 not on the RUSP, despite the fact that we do 0:15:57.400 --> 0:16:00.240 have tests for them and we do have tree it's 0:16:00.240 --> 0:16:04.120 available where if things were caught earlier, their condition could 0:16:04.120 --> 0:16:05.040 have been different. 0:16:05.400 --> 0:16:05.680 Yep. 0:16:06.480 --> 0:16:08.120 Yeah, So yeah, this is a big deal. 0:16:08.320 --> 0:16:09.920 It is a big deal. It is a big deal, 0:16:10.640 --> 0:16:13.280 and you know, I think, just to put some numbers 0:16:13.320 --> 0:16:17.880 onto this, every year, approximately thirteen thousand infants in the 0:16:18.040 --> 0:16:21.720 US receive a diagnosis for a treatable condition and it 0:16:21.760 --> 0:16:24.640 was initially detected through newborn screening. 0:16:24.920 --> 0:16:27.720 Thirteen thousands every year. That's a lot. 0:16:27.960 --> 0:16:31.520 Yeah, and that number has the potential to grow as 0:16:31.600 --> 0:16:34.960 we are able to capture more individuals, more. 0:16:34.920 --> 0:16:36.440 Things you add to the list. 0:16:36.400 --> 0:16:41.160 Exactly, especially with genome with whole genome sequencing. But for 0:16:41.240 --> 0:16:43.880 that number to grow, for the number of conditions that 0:16:43.920 --> 0:16:47.920 we detect to grow, and for newborn screening to grow equitably, 0:16:49.000 --> 0:16:51.960 we will need some sort of panel of experts to 0:16:52.040 --> 0:16:56.560 help sift through the tsunami of information that is now 0:16:56.600 --> 0:17:01.960 available thanks to genomic sequencing. Fortunately, this is like the 0:17:03.040 --> 0:17:05.960 hope on the horizon that does seem like it might 0:17:06.000 --> 0:17:09.680 be within reach because also in April of this year, 0:17:10.119 --> 0:17:13.720 so this is just before the announcement dissolving the Advisory 0:17:13.720 --> 0:17:18.200 Committee came out, the NIH Common Fund announced a research 0:17:18.240 --> 0:17:24.639 opportunity titled the Newborn Screening by Hold Genome Sequencing Collaboratory Initiative. Okay, 0:17:24.720 --> 0:17:26.720 like a lot of words like, yeah, what does that mean? 0:17:26.920 --> 0:17:29.760 What does that mean? Yeah, So what it means is 0:17:29.760 --> 0:17:32.520 that the NIH has set aside a pot of cash, 0:17:32.920 --> 0:17:37.160 so four point eight million dollars per year over three years, 0:17:37.240 --> 0:17:41.480 so totally fourteen point four million dollars. Okay, that's what 0:17:41.520 --> 0:17:43.919 the NIH has set aside to figure out how we 0:17:43.960 --> 0:17:48.840 can incorporate hold genome sequencing into the existing state based 0:17:49.080 --> 0:17:53.280 US public health newborn screening programs. So basically, this money 0:17:53.320 --> 0:17:57.879 is saying, okay, different programs, please apply to be the 0:17:57.880 --> 0:18:01.800 ones to help us, you know, use our existing infrastructure 0:18:02.400 --> 0:18:07.440 to develop and implement hold genome sequencing for newborn screening 0:18:07.600 --> 0:18:08.520 across the US. 0:18:08.720 --> 0:18:10.520 It's like, help us figure out how we're going to 0:18:10.600 --> 0:18:13.840 convert from what we have now to hold genome sequencing 0:18:14.000 --> 0:18:16.080 at some point in the future. Yes, and we're going 0:18:16.160 --> 0:18:18.800 to do it at these sites that we pick based 0:18:18.840 --> 0:18:21.240 on whoever applies to this to. 0:18:21.280 --> 0:18:25.080 This initial collaboratory fund. Yeah, okay, iniative. 0:18:25.160 --> 0:18:26.400 That's great, it's great. 0:18:26.400 --> 0:18:29.639 It's great. So, yeah, the focus of this initiative is 0:18:29.680 --> 0:18:32.600 not like, how do we best develop whole genome technolo 0:18:32.680 --> 0:18:35.679 hold genome sequencing technology. We have that technology for the 0:18:35.680 --> 0:18:38.200 most part, but it's just how can we best fold 0:18:38.240 --> 0:18:41.360 it into the screening programs that we already have. So 0:18:41.560 --> 0:18:44.800 the the other good news thing about this is that 0:18:45.080 --> 0:18:47.960 it's moving pretty rapidly. So applications were due in May 0:18:48.600 --> 0:18:52.120 and the earliest start date was September one, twenty twenty five, 0:18:52.160 --> 0:18:54.760 so it's possible that by the time this episode is released, 0:18:54.800 --> 0:18:59.000 the project is already underway. So that's that's pretty that's 0:18:59.040 --> 0:18:59.480 pretty good. 0:18:59.520 --> 0:18:59.720 Right. 0:19:00.320 --> 0:19:03.320 There's still this issue though, of the dissolved advisory committee, 0:19:03.400 --> 0:19:06.239 so like what does it mean in light of that? 0:19:07.560 --> 0:19:11.720 It does seem that part of this new initiative involves 0:19:11.720 --> 0:19:15.600 determining a target gene list, so, in other words, genetic 0:19:15.600 --> 0:19:18.440 conditions to include on the screening panel. 0:19:18.359 --> 0:19:20.199 Which is really important and we'll talk in a lot 0:19:20.240 --> 0:19:22.200 more detail about how those decisions are made. 0:19:22.600 --> 0:19:27.480 Hugually important, hugely. Yeah, and so this could conceivably supplement 0:19:28.080 --> 0:19:34.240 or eventually replace the RUSP as genomics sequencing supplants traditional 0:19:34.280 --> 0:19:38.159 newborn screening greatly. Expanding the number of conditions that we 0:19:38.200 --> 0:19:42.320 screened for in that process. Okay, and so this project 0:19:42.359 --> 0:19:45.360 seems like it would go a long way towards bringing 0:19:45.480 --> 0:19:47.720 or it will go a long way towards bringing newborn 0:19:47.720 --> 0:19:51.880 screening into this new era of whole genome sequencing. And 0:19:52.560 --> 0:19:56.000 the panel that was dissolved would probably have had to 0:19:56.080 --> 0:19:59.560 change to incorporate this new technology at. 0:19:59.440 --> 0:20:03.960 Some point the future, once it exists already. 0:20:03.840 --> 0:20:06.399 Right, So that's that's that's the sort of the question 0:20:06.480 --> 0:20:09.800 is like, is this a perfect replacement? It doesn't seem 0:20:09.840 --> 0:20:11.960 at this point like it is, right, Like I the 0:20:12.080 --> 0:20:15.159 questions that I still have are what happens to the 0:20:15.280 --> 0:20:19.879 RUSP while this project slash collaboratory gets up and running. 0:20:20.720 --> 0:20:24.719 Will those two nominated conditions or or any others that 0:20:24.840 --> 0:20:27.160 come up in the you know, in the next few years, 0:20:27.160 --> 0:20:31.000 will those be evaluated and added? You know, what happens 0:20:31.000 --> 0:20:34.880 if we're still a decade away from genomic sequencing being 0:20:34.960 --> 0:20:37.959 the norm at state public health departments like our state's 0:20:38.000 --> 0:20:39.200 on their own until then? 0:20:39.400 --> 0:20:39.560 Right? 0:20:39.640 --> 0:20:45.200 What happens? Also after three years when this project ends, 0:20:45.480 --> 0:20:47.120 will the funding be renewed? 0:20:48.280 --> 0:20:48.679 I don't know. 0:20:49.359 --> 0:20:53.520 I don't know, So, like I this. I mean, this 0:20:53.640 --> 0:20:59.560 initiative is a really exciting and necessary step forward to 0:20:59.640 --> 0:21:03.960 meet the informational challenge posed by genomic sequencing technology, because 0:21:03.960 --> 0:21:07.600 the future is here, and this project will help us 0:21:07.720 --> 0:21:11.960 navigate that future carefully, thoughtfully, and with evidence to support 0:21:12.000 --> 0:21:15.439 our decisions. I still don't know what happens to newborn 0:21:15.480 --> 0:21:16.880 screening in the meantime. 0:21:17.240 --> 0:21:19.639 Yeah, I feel like that's what sounds very scary about it. 0:21:19.680 --> 0:21:21.360 Is it's like, yeah, we're gonna get all ready for this, 0:21:21.800 --> 0:21:24.480 but then it's like, so we're just what are we 0:21:24.480 --> 0:21:29.080 We're just gonna stay stagnant. Is one state maybe like 0:21:29.119 --> 0:21:33.399 advisory board gonna take over like supplant the thing just informally? 0:21:33.560 --> 0:21:35.960 I don't know, Like, yeah, is every state just gonna 0:21:35.960 --> 0:21:38.000 have to work harder to decide if they're going to 0:21:38.040 --> 0:21:40.360 add things to their newborn screening list in the meantime? 0:21:40.640 --> 0:21:43.760 Right, will one state emerge as a leader and say 0:21:43.880 --> 0:21:45.880 these are the things that we should be screening for? 0:21:45.960 --> 0:21:46.119 You know? 0:21:46.160 --> 0:21:52.720 Will someone take up that, right torch? I guess yeah? Yeah. 0:21:52.760 --> 0:21:55.480 But okay, so now that we know what the future 0:21:55.560 --> 0:21:58.240 might look like, even if you still have questions about 0:21:58.240 --> 0:22:02.879 the present, shall we take a peek at the past 0:22:03.000 --> 0:22:06.200 to see the origins of newborn screening and how far 0:22:06.280 --> 0:22:10.160 we've come since then. Yes, let's okay, okay. On November 0:22:10.200 --> 0:22:13.280 twenty fifth, nineteen sixty one, a letter to the editor 0:22:13.320 --> 0:22:17.359 appeared in Jamma with the title quote blood screening for 0:22:17.480 --> 0:22:19.720 fetal keytenuria end quote. 0:22:20.240 --> 0:22:22.840 That's it. That's just the whole title. The whole title. Okay. 0:22:22.880 --> 0:22:24.840 This is a letter to the editor. By the way, So, 0:22:25.040 --> 0:22:27.920 in just over six hundred and sixty words, doctor Robert 0:22:28.000 --> 0:22:31.439 Guthrie described a new technique for testing newborns for a 0:22:31.480 --> 0:22:37.400 condition called feenal keytinuria. Briefly, it's PKU. I won't keep 0:22:37.400 --> 0:22:41.919 saying that because it's difficult. Erin, could you give us 0:22:41.920 --> 0:22:43.879 like a brief rundown of what PKU is? 0:22:44.040 --> 0:22:46.040 Oh my gosh, really, how on the spot? 0:22:46.320 --> 0:22:46.760 As sure? 0:22:49.480 --> 0:22:53.800 So PKU is as a metabolic disorder where babies are 0:22:53.840 --> 0:22:57.720 not able to break down certain amino acids and so 0:22:57.800 --> 0:23:00.560 then they build up in their bloodstream and can end 0:23:00.680 --> 0:23:01.480 up being toxic. 0:23:02.000 --> 0:23:04.600 That's the shortest way to say it. That's great, okay, perfect, 0:23:04.680 --> 0:23:08.000 thank you. I probably should have written something out, but 0:23:08.080 --> 0:23:09.320 I was like, no, you did it. 0:23:09.560 --> 0:23:12.240 I have nothing. My heart rate spike. 0:23:12.520 --> 0:23:17.119 Oh no, I'm sorry. It did great, A plus A plus. 0:23:18.440 --> 0:23:21.760 So yeah. But this, this test that Robert Gouthrie had 0:23:21.960 --> 0:23:25.000 written to the editor about examined a spot of blood 0:23:25.040 --> 0:23:27.080 to see if there was an excess amount of an 0:23:27.080 --> 0:23:31.040 amino acid called phenylalanine. It was not a diagnostic test, 0:23:31.440 --> 0:23:34.800 but it indicated which individuals needed to be tested further 0:23:35.160 --> 0:23:38.800 to confirm that they had PKU. The blood screen was 0:23:38.920 --> 0:23:42.199 it was inexpensive, it was easy to administer, and it 0:23:42.280 --> 0:23:46.840