BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay

[00:00:00] I'm Effie Parks Welcome to Once Upon A Gene, a podcast. This is a place I created for

[00:00:09] us to connect and share the stories of our not so typical lives. Raising kids who are

[00:00:15] born with rare genetics and drones and other types of disabilities can feel pretty isolating.

[00:00:20] What I know for sure is that when we can hear the triumphs and challenges from others who get it,

[00:00:26] we can find a lot more laughter, a lot more hope and feel a lot less alone.

[00:00:31] I believe there are some magical healing powers that can happen for all of us through sharing

[00:00:36] our stories and I'll take all the help I can get.

[00:00:43] Once Upon A Gene is proud to be part of bloodstream media, living in a family affected by

[00:00:48] rare and chronic illness can be isolating and sometimes the best medicine is connecting

[00:00:54] to the voices of people who share your experience. This is why bloodstream media produces podcast

[00:00:59] blogs and other forms of content for patients, families and clinicians impacted by rare and

[00:01:05] chronic diseases. Visit bloodstreammedia.com to learn more. Hey friends welcome back to the show.

[00:01:11] If you're new here, welcome. There are so many amazing episodes in our back catalogs. So go check

[00:01:16] them out. Text me if you're looking for something specific and I will send you a link. My name's

[00:01:21] Effie Parks by the way and I host this beautiful show and I'm so grateful to be able to

[00:01:26] be here with you and have these conversations about rare disease advocacy. So if you haven't

[00:01:31] joined the Once Upon A Gene therapy walking club yet, go check it out. What are you even doing?

[00:01:36] We're getting our steps in and we're finding strength in empowering each other, motivating

[00:01:42] each other and just really encouraging each other to take a little extra care of ourselves as

[00:01:46] caregivers. So go check it out. They're all over my Instagram, slash Facebook and the New Year's

[00:01:52] episode also delves into it so go check it out. Okay so today in this episode we are talking about

[00:01:57] the groundbreaking initiative called Beginnings which is a consortium that stands at the forefront of

[00:02:02] genetic sequencing and rare disease diagnosis. So we're gonna uncover its origin and the project itself,

[00:02:09] its critical phases and the vital partnerships that makes it all possible. So joining us today

[00:02:14] are the esteemed guests Dr. Stephen Kingsmore from Rady Children's, Tom DeFae from the Partnerships

[00:02:20] team at Alexian and the one and only Wendy Euler also from Alexian so together we're gonna have a great

[00:02:26] chat. We're gonna hear about their vision, the challenges and the hopes tied to this pioneering

[00:02:31] program. So buckle up here we go. This is an insightful conversation and I hope you enjoy it.

[00:02:37] Please enjoy my conversation with Dr. Stephen Kingsmore, Tom DeFae and Wendy Euler. Hello everyone.

[00:02:44] Welcome to the podcast. I'm gonna start out with a couple little brief intros. I have Wendy,

[00:02:50] Euler, I have Tom DeFae and I have Dr. Stephen Kingsmore so just just start out with a little who are you

[00:02:57] and give us a little brief intro. I'll start with you Dr. Kingsmore. Hello, I'm Stephen Kingsmore.

[00:03:03] I'm the president and CEO of Rady Children's Institute for Genomic Medicine which is a research

[00:03:09] institute located in San Diego, California. How about you, Wendy? Hi, Fee. My name is Wendy Euler and

[00:03:17] I lead patient experience at a rare disease company called Alexian. Tom my new buddy. Hi, I'm Tom DeFae.

[00:03:26] Great to meet you, Fee. Really happy to be here. I am deputy head of Diagnostic Strategy and

[00:03:30] development for Alexian and I'm also deputy chair of the beginnings consortium which Stephen is the

[00:03:37] chair of. Excellent. Okay, so I have some I have three really amazing smart people who are all

[00:03:42] working together on a really important project so I'm excited to get this conversation going

[00:03:47] and share it with my rare disease audience here. Dr. Kingsmore, can you outline the idea that led to

[00:03:54] the creation of beginnings? The idea that led to the creation of beginnings was what if we could

[00:04:04] prevent or reduce the impact on children of rare genetic diseases? What if we for maybe a

[00:04:15] thousand genetic diseases? What if we could either completely prevent them or minimize the suffering,

[00:04:25] minimize the cost, minimize the delay? Rare genetic diseases as probably all of your listeners know

[00:04:32] are an immense health ecosystem challenge and the challenge is a timely diagnosis. So on average

[00:04:42] it takes 4.8 years to diagnose a child with a genetic disease and during that period

[00:04:51] children get worse and worse their symptoms get worse, their disease progresses, they may die in fact

[00:04:58] and during that period again as your listeners well know parents go from pillar to post,

[00:05:06] from specialist to specialist physician, test to test treatments are tried, usually symptomatic

[00:05:15] treatments until finally hopefully a diagnosis is made the right diagnosis and appropriate therapy

[00:05:24] is started. That's what we want to eliminate, we want to eliminate the 4.8 year average delay in

[00:05:32] diagnosis and effective therapy for every preventable or treatable genetic and infectious disease

[00:05:42] in every child in the United States. And Stephen and probably Tom when did the idea to collaborate

[00:05:50] with Alexion and establish this consortium kind of begin? Is this the tinkering phase still like how did

[00:05:57] that happen? So we've been meeting with Stephen and the Rady Children's Institute of Genomic

[00:06:03] Medicines regularly in San Diego about four times a year and every time we would go to those meetings

[00:06:09] we'd have a plan for how we could transform diagnostics in children's lives. And no matter what we did

[00:06:15] that plan would change after meeting and discussing for about a couple hours. And this was one of those

[00:06:20] cases where they about a year and a half ago now we came in with a plan about how to do rapid

[00:06:25] diagnostic screening, we said let's let's see if we can do this for newborns, let's see if we can

[00:06:30] take this to the next level it was it was a great discussion. Wendy, Alexion you know I love

[00:06:37] Alexion, their support for beginnings is so awesome it's so commendable can you explain why

[00:06:44] you found beginnings to be such an important initiative to back? You know Effie I think we all share

[00:06:48] the same vision for all of us that are connected to the rare disease community whether by choice

[00:06:55] or by chance and really ultimately that vision is a world where every rare disease patient receives

[00:07:02] the right effective treatment at the right time. And for us at Alexion this isn't just the diseases where

[00:07:09] we have research programs and even medicines but all rare diseases. And that starts with

[00:07:16] changing this diagnostic odyssey and ensuring an early accurate fast diagnosis.

[00:07:23] And the work that Steven's doing is has the potential to really deliver on this ultimate mission

[00:07:29] and vision. Dr. Kingsmore can you kind of go through it a little more in depth and highlight the

[00:07:35] phases phase one and two of beginnings. So phase one was the first phase obviously we went from a

[00:07:42] concept, the concept I just described to a working prototype that took about two years. We finished

[00:07:50] that 18 months ago phase one we published two manuscripts in the scientific literature describing

[00:08:00] the prototype and showing that it could work. The prototype was for about 390 rare childhood

[00:08:08] genetic diseases that have effective treatments or that can be prevented entirely by treatment.

[00:08:16] And a prototype means that it works, it works in a research environment but it's not scalable,

[00:08:22] it's not ready for commercialization, it's not ready to be put into practice. It's an experiment.

[00:08:30] So that was phase one and that finished as I say 18 months ago. At phase two is the phase that's

[00:08:37] just about to finish so it's now St. Valentine's Day 2024 and so over the last 18 months we've

[00:08:45] completed phase two. In phase two we re-examined every disease that we had it looked at in phase one,

[00:08:54] we had expert physicians and geneticists look over every single one, they threw away about 30 of the

[00:09:03] diseases that we didn't feel should be retained because they didn't quite meet the criteria

[00:09:10] and then we added about 50 more diseases and so our total at the end of phase two is 412

[00:09:19] diseases and many more treatments, it's about 1800 different treatments. In addition in phase two

[00:09:28] again we proved that it worked and we built the first diagnostic version. So the first clinical

[00:09:35] version of beginnings one that can be done in human subjects and we actually did a pilot study

[00:09:44] in 120 critically ill babies in our intensive care unit to prove out that it would work in practice.

[00:09:52] That's phase two, phase two has been successful. We will be publishing the results of phase two

[00:09:59] at some point during the next year. So it's currently and still only being done at

[00:10:05] Rady Children's, it's still kind of in that pilot phase. So we are still in the pilot phase

[00:10:11] of beginnings and it is being done only in patients in San Diego County, largely through

[00:10:20] Rady Children's Hospital System. I remember reading a paper or maybe I even heard you at a conference

[00:10:27] talking about the financial differences in what you're doing and how much money it's saving

[00:10:32] the system and families. Can you talk a little bit about that? When we think about how many

[00:10:36] dollars healthcare dollars we could save, it's really quite tricky to garner an estimate but the closest

[00:10:44] I can come is about a trillion dollars. That's the estimate it's not about five years old, it's a

[00:10:50] five year old estimate of how much healthcare expenditure goes into rare genetic diseases each year.

[00:10:59] We anticipate that more than a thousand genetic diseases will be impacted and so the potential

[00:11:07] savings could be as much as a trillion dollars per year. Of course we need to do studies to actually

[00:11:15] prove that. That's the best guess at present. Wendy, as you know, we always hear kind of a world

[00:11:23] where everywhere disease patient receives the right effective treatment at the right time. Can you

[00:11:27] delve into that a little deeper for us and into the vision and the implications of it for our

[00:11:32] patient communities that you're so close to? Wow, that's a huge, huge question but to bring it

[00:11:38] down a little bit to add on to what Dr. King's Mar was saying. The other thing to think about,

[00:11:44] whole genome sequencing can make it possible to also have test results in just a few days and

[00:11:51] when you think about that whole concept of knowing that there's something not quite right and

[00:11:57] wanting to get that answer, this all accelerates the process of getting to that answer

[00:12:03] and the more rare diseases that have a name, have a diagnosis, the more advanced research can be

[00:12:11] and the more quickly treatments can be discovered and developed. But it's very complex and not

[00:12:19] a great system today, so we have a lot of work to do. I think the other thing, you know,

[00:12:24] we're starting to hear a lot more about is there's a lot more about these conditions that

[00:12:29] is the same than is different. So where there are advances in one group of conditions like

[00:12:35] neuromuscular genetic diseases where potentially you can accelerate a therapy for one condition

[00:12:43] because you know a lot about it and the Jason condition. So a lot to come, but I do think everyone

[00:12:49] that's focused on early diagnosis, the reason for that is to make sure that these rare diseases

[00:12:57] are counted, have a name, and then their path to what do we need to do to treat it

[00:13:03] is a little bit more clear. Tom, wondering if you can elaborate more on the consortium mission itself

[00:13:10] and what your eyes are on the future for it? So this consortium, the beginnings consortium,

[00:13:16] you know we already have, I think it's 24 different partners, 14 different pharmaceutical companies

[00:13:22] and biotech have joined, sharing that vision of the right effect to treatment at the right time

[00:13:29] and our vision is exactly what Stephen articulated ultimately is to make sure that every baby born

[00:13:36] in the United States has the opportunity to be to be screened in this way for these devastating

[00:13:42] disorders. And I wanted to add to the discussion around the 409 diseases, this effort is so important.

[00:13:52] We really want to make sure that we move forward in sort of the most, in a cautious way

[00:14:00] but in a very effective way. So we want to focus on the diseases where the need is the greatest

[00:14:05] and make sure we can really roll this out in the right way. And that's why we're doing it

[00:14:09] a step by step way. I agree with Stephen, I think we're going to expand to the six or seven

[00:14:15] hundred disorders over time, but really getting it right for these 409 diseases would be an enormous

[00:14:20] step forward. And Effie, if I can add one of the things that I think really differentiates this work

[00:14:26] and the consortium in particular is the patient communities have been represented at the table from

[00:14:32] the beginning. And I can assure you that this was really important to Raidi and to the other

[00:14:40] pharma companies that joined the consortia. And we're super proud of this because we know that none

[00:14:46] of these pieces of work and solutions can be developed in isolation. And the patient community

[00:14:52] contribution has been from every step of the process, consent and questions around how you share

[00:14:59] information and ethics. It's been really impressive to have all of those voices at the table.

[00:15:04] That's a really great point. So we've started a number of working groups to help advise

[00:15:09] and drive some key questions. And some of those working groups are being led by members of the

[00:15:13] patient community. And to me, this is critically important to make sure that what we deliver

[00:15:19] is valuable for the patients. Thanks for writing that. I was going to ask for an example. So I

[00:15:24] swooped right in there Tom. Dr. King's more. I'd like to go back on something you just

[00:15:28] barely mentioned about pediatricians. You know, there are frontline as families bringing

[00:15:33] your kids in, especially if they slipped that opportunity, if you will, to be in the NICU

[00:15:40] at birth and were sent home. How do we sort of educate our pediatricians on

[00:15:49] calling for these genetic tests sooner than later or even being able to call them themselves

[00:15:54] and order these tests? I know too, like the cost involved is so you said negative a moment

[00:15:59] ago in the scheme of things, but even now families I know every single day are being told

[00:16:04] that it's too expensive and insurance won't reimburse it. What are your thoughts on all of that?

[00:16:08] It's a great question. How do we educate our pediatricians to order genetic testing sooner?

[00:16:16] We have struggled a lot with this. By and large, the problem with rare genetic diseases

[00:16:23] and rare infectious diseases is they're not top of mind for physicians. Physicians are rigorously

[00:16:31] trained to think first of common diseases and in fact during our training, we are criticized

[00:16:40] if we think about rare diseases. We're taught rigorously to think common diseases and so part

[00:16:49] of the problem that we face in the rare disease community is retraining pediatricians and other

[00:16:56] physicians and healthcare providers to think in a new different way. We're not saying that they

[00:17:03] should ignore common diseases, but they should retain a high index of suspicion for rare genetic

[00:17:11] diseases in certain situations. One is in the most severe diseases. So for example, any disease

[00:17:19] that leads to a child being admitted to an intensive care unit any disease that occurs more severely

[00:17:26] than is generally seen. So for example, very severe seizures, but really any very severe disease

[00:17:34] or any disease that's not responding to typical treatments. So for example, we have first-line therapies

[00:17:43] for most common diseases and if the child isn't let's say a child has an infectious disease

[00:17:50] has sepsis and is not responding to antibiotics. All of these things should prompt a pediatrician

[00:17:57] to think about genetic testing and to order that immediately. So we have been working hard

[00:18:04] with various health systems and with policymakers to actually develop policies around when genetic

[00:18:13] testing should be ordered and in particular for genetic testing in hospitalized children.

[00:18:19] And I'm really glad to tell you that that is starting to gain traction, that in fact 10 different

[00:18:26] US states know how policies form Medicaid coverage of genetic testing by rapid whole genome sequencing.

[00:18:38] And that's so significant because genome sequencing has the potential to diagnose

[00:18:44] almost every genetic disease that's known. So one test for almost every genetic disease diagnosis

[00:18:55] and the fact that that would be covered by national health insurance by Medicaid for children

[00:19:00] is huge because over one half of the US population have their hospital bills paid by Medicaid.

[00:19:09] In addition, Blue Cross Blue Shield, one of the major payors' private payors has a policy

[00:19:15] to cover the same testing, rapid diagnostic whole genome sequencing for the same population.

[00:19:22] So for hospitalized children nationwide they're the first major payor to do so.

[00:19:28] We hope that over the next 12 to 18 months, that every other state will follow suit

[00:19:35] with the first 10 and every other major insurance company will follow suit with Blue Cross Blue Shield

[00:19:44] and allow this to reach every child in need across the US. That won't be the end of the problem though

[00:19:53] because as you asked me, we still need to educate the pediatricians to order the test early

[00:20:01] during a disease as opposed to late in the disease. If you had two major pain points that are kind

[00:20:09] of a barrier for you leveraging this idea, what would they be? So two major pain points in terms of

[00:20:17] newborn screening for all preventable genetic disorders and for broad use of rapid diagnostic

[00:20:27] genome sequencing are number one, what I just spoke about the fact that pediatricians tend to order

[00:20:36] genome sequencing rarely. So we estimate only 2% of the children who need this test get tested.

[00:20:46] Can you imagine only 2% we estimate the need to be 200,000 families a year and the only

[00:20:57] probably 4,000 tests are currently being ordered per year. So that's a major pain point and the

[00:21:05] second one is that even when testing is ordered it does not always translate into the optimal therapies

[00:21:16] for those children and there still can be delays in giving them life saving treatments. And that's

[00:21:22] especially painful as we have new treatments such as gene therapies that can actually cure a genetic

[00:21:31] disease. And so the idea that testing can be done, we can rush the results back to a physician

[00:21:38] and then there are still delays to get life saving treatments in place is also a major pain point.

[00:21:46] Oh, I think every parent is nodding along to that one. I think we'll personally celebrate a day

[00:21:51] where panels are not the go-to like at all. It wastes a lot of time and as your financial report it

[00:21:57] wastes a lot of money but it's you know it's our kids' lives and time is brain as a lot of them would

[00:22:03] say. Tom I think there's some seats at the table in the consortium for some pediatricians.

[00:22:09] Yep yep absolutely. Yep go ahead and put that on your list. Can you explain exactly what whole genome

[00:22:15] sequencing is? Sure so you know you probably have been hearing about whole exome sequencing where

[00:22:22] you're you're sequencing portions of the genome. Whole genome sequencing is exactly as it sounds.

[00:22:28] It's sequencing the whole thing. Now when we sequence the whole genome we're only examining like

[00:22:34] we said those 409 diseases that have treatments available but as we go through this work we can

[00:22:42] add additional diseases simply by looking at that portion of the genome and going after it

[00:22:49] and also the technology around whole genome sequencing allows us to run some additional tests

[00:22:55] that are difficult to run in the in the whole exome way. So it's just a it's a more sensitive test

[00:23:00] it's a more complete test and it allows us to scale more rapidly as we add additional

[00:23:05] disorders that have treatments available. Thanks Tom. Stephen are you analyzing all the data

[00:23:11] and doing doing those reports like at your facility or are you handing them off to a third party

[00:23:17] and if you aren't would it be more efficient to do so so you can concentrate on what y'all are

[00:23:22] doing or are you keeping it in house for a reason? Yes we are analyzing genetic test results

[00:23:30] at our lab, at our institute at Rady Children's Institute for Genomic Medicine and in fact we had

[00:23:37] a milestone last week and that was that we added our 100th hospital. It's Trinity Hospital,

[00:23:46] it's a Children's Hospital and it's the 100th Children's Hospital to join our network

[00:23:52] and to order rapid diagnostic genome sequencing through our lab so we now have 100 different

[00:24:00] partner hospitals from all over the United States and also from Canada and this year we will test

[00:24:09] roughly 1200 families so it's mum's, dads and babies or older children. We are very excited

[00:24:19] because that will be about a 30 or 40 percent increase over last year and in fact our run rate

[00:24:28] so far in 2024 is higher than we expected and I hope we may actually get up to 1500 families

[00:24:39] who get an answer this year. So for the second part of your question we're still working really

[00:24:45] hard to make this more efficient and by more efficient I mean that we want to increase the rate

[00:24:52] of diagnosis so about one in three families will receive a diagnosis. Some of those diagnoses

[00:25:02] are something that your listeners will have heard about it's so-called variants of uncertain

[00:25:08] significance these are variants that we don't really know whether they're causing disease or not

[00:25:13] we're keen to eradicate those we're keen to have unambiguous results so that yes your child has

[00:25:20] a genetic disease or no they do not have a genetic disease we're still working on that that's

[00:25:26] something that we need to become much more efficient at. We also want to increase the rate recently

[00:25:32] we switched on testing for what we call repeat expansion disorders one of those is myotonic

[00:25:40] and in the first three or four months of adding that new test to our menu for rapid diagnostic

[00:25:49] whole genome sequencing we had one new diagnosis every month so there are still significant

[00:25:55] gains to be had in terms of the proportion of children who will get positive results

[00:26:02] and that means that even in families who've had a negative result it makes sense to retest them

[00:26:09] to reanalyze that data after a period of time we're keeping this in-house currently for a couple

[00:26:16] of really important reasons first of all we are a not-for-profit research institute and so we are

[00:26:23] motivated not not-for-profit but out of a mission to alleviate human suffering as part of a hospital

[00:26:34] system and that gives us a different lens to look at this through and it means that we can do

[00:26:38] testing in certain circumstances for free for families who can't afford this because we don't

[00:26:45] have to make a profit. In addition it allows us to do a lot of research just as I describe with

[00:26:52] beginnings to make what we do more efficient faster and better and there continues to be a

[00:27:00] need for that even if that's not commercially viable but we are considering how we close the gap

[00:27:08] right I told you earlier the only 2% of children who need this are getting this test this year

[00:27:17] we need to close that gap we have 98% gap to fill and so we are considering strategically what are

[00:27:26] our options to go from 2% to 100% of that need being met. Are there any findings from phase 2

[00:27:38] that you're allowed to share publicly or they are excited to share publicly? Yes so that there

[00:27:44] are there certainly are one of the most exciting findings is that this test really works and I'll

[00:27:52] give you an example of that so we've been doing rapid diagnostic genome sequencing now for almost

[00:27:59] 9 years at our institute and one case that I remember really well we published in the New England

[00:28:07] Journal of Medicine and actually said a world record for fastest diagnosis was a little boy who was

[00:28:15] seizing in our intensive care unit and we found that he had a very rare genetic disease

[00:28:24] called baton thiamine responsive basal ganglia disease that was causing his seizures and we were

[00:28:31] able to make that diagnosis in 13 and a half hours which allowed us to start treatment before

[00:28:38] he incurred brain damage and he went home and he should do really well however his sister had

[00:28:46] died 10 years earlier of the same symptoms so severe seizures that were unremitting and she died

[00:28:55] at less than one year of age. So as part of our phase 2 beginning study we looked at a thousand

[00:29:02] babies who had died over the last 15 years in San Diego County and one of those babies

[00:29:13] was a little girl who had exactly the same disease so baton thiamine responsive basal ganglia

[00:29:21] disease what a mouthful with the same variant the same causal mutation that is almost certainly

[00:29:30] that little boy sister so we were able to identify that now tragically she had died but what that

[00:29:37] tells us is that our new test would have saved her life had it been available so she's one of many

[00:29:46] many cases that we studied in phase 2 because we re-studied about seven and a half thousand genomes

[00:29:56] that we had already done diagnostic genome sequencing in as well as a thousand babies who had

[00:30:03] died of unknown causes as part of this study and we found in fact a couple of hundred babies

[00:30:12] who would have benefited so that's very exciting we've proven out that this test beginnings

[00:30:19] will work well when we are able to test every newborn for a thousand treatable and preventable

[00:30:27] genetic diseases and if I could add to that a little bit you know the this newborn screening test

[00:30:34] is a screen you know there's newborn screening behold genome sequencing it's a screen

[00:30:38] and it's really important for the doctors also to have information around what is the next step

[00:30:44] in the process to confirm the diagnosis and to make that information available as well because

[00:30:49] ultimately the physician involved needs to be making the diagnosis after after we do the screen

[00:30:55] okay so let's talk about hopes for the future Tom Steven what are your aspirations and the trajectory

[00:31:02] for beginnings well we now lead a consortium of about 30 different organizations and that they include

[00:31:11] rare disease advocacy organizations they are parental support groups for rare genetic diseases

[00:31:21] they are healthcare systems policy makers experts in academic medicine biotechnology companies who

[00:31:30] are inventing new genome sequencing methods new infirmatic and artificial intelligence methods

[00:31:37] and pharmaceutical companies who are developing new treatments for rare genetic diseases so that's

[00:31:43] our consortium it's the beginnings consortium and our hope is that we will increase the size of

[00:31:51] that consortium to over 50 different organizations if you're listening and you'd like to get involved

[00:31:59] please reach out to Effie and she'll put you in contact with us because we want to grow this it's

[00:32:06] an open organization and we need every voice we need every race every ethnicity every ancestral

[00:32:15] group every geographic region we need every social economic status and we need every genetic disease

[00:32:23] to be represented in our consortium we need to raise the finances to be able to do our pivotal

[00:32:30] clinical trial we estimate that we will need to test over 15,000 babies so another strong aspiration

[00:32:38] is to raise grant support and funding from our consortium to be able to complete this

[00:32:46] and to be able to actually commercialize to productize beginnings as a test and to deploy it

[00:32:54] and our strong goal is to deploy it for the first time in a US state or in a large health care system

[00:33:04] and reach the majority of the babies served in that region in that state or in that system

[00:33:12] and to do that within the next five years so that's by 2029 that's our single biggest hope

[00:33:21] and aspiration for the future for beginnings. Amen! I mean seriously. Effie every time I hear Dr.

[00:33:30] Kingzmore talk about this potential I think about Ryan Shede's story and the binder and how so

[00:33:38] much of the responsibility on rare disease families moves immediately from the physician to the

[00:33:46] parent and the parents have to become disease experts and management experts and seek out alternative

[00:33:53] therapies for care and if we could solve for that alone in the way Dr. Kingzmore describes

[00:33:59] it just would be a huge step forward. Thanks Wendy yeah I do understand grown-up land in all this

[00:34:07] oh however I am in team like a patient advocacy org who's contributing to research is a form

[00:34:14] of a treatment may it not be medical of course and then also I think about those babies that got sent

[00:34:20] home like my son who shouldn't have been sent home and so in the perfect world this is also the

[00:34:26] the curtails that gets to jump on this as soon as it's finally widely accepted and is the norm

[00:34:32] like Dr. Kingzmore mentioned. And we have a sense of urgency you know we don't want to have this

[00:34:37] happen in 30 years the technology exists now we can make this happen now and so we're working

[00:34:44] very hard to try to make this a reality as soon as we can know for every child in the United States

[00:34:50] could happen as early as 2030 that's a stretch it's an audacious stretch but it's something we would

[00:34:57] we'd like to become a reality. Yes Wendy in your Wendy way do you have anything warm and fuzzy

[00:35:04] to leave for our patient community any opportunities you'd like to leave them with or just

[00:35:11] some hope. You know you asked a question about what is the dream and I think the dream really is

[00:35:19] to end the diagnostic odyssey for all of these rare disease families and we hear the same

[00:35:26] traumatic story over and over and over about the seeking information process

[00:35:34] and if we can make that better and provide a community for families where they actually

[00:35:41] have an immediate place for connection and information and then get to the world where there

[00:35:47] is a treatment to me that's the dream. Thank you three so much for all of your work

[00:35:52] in I champion you and I know that this will get into the ears of everyone who actually does

[00:35:59] see a pediatrician and who even is a pediatrician and I think just the more people that are aware

[00:36:05] that this is real this isn't science fiction that it will just get louder and there will be

[00:36:10] more advocacy surrounding it from conversations like this so thank you all so much for taking

[00:36:15] the time to talk with me a little bit about it and I'm just so thankful for the work that you're

[00:36:20] doing. Thank you. Dr. King's more and the team at Rady Genomics are inviting once upon a gene

[00:36:26] listeners to their annual Frontiers in Pediatric Genomic Medicine Conference may first and second

[00:36:32] in La Jolla, California. This seaside conference features research presentations about the ways

[00:36:38] genomics is reaching beyond the NICU and informing care and behavioral health and neuro oncology.

[00:36:44] The conference also includes a family panel where parents will share their first-hand experience

[00:36:48] with whole genome sequencing and genomically informed care. If you can't join in person

[00:36:53] there's also a virtual option so for more information on the conference and to register go to

[00:36:58] radygenomics.org slash Frontiers and I'll also have it linked in the show notes.

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