Episode 266 — Know SOONER, Help MORE
Guest: Dr. Jay Gargus and Michelle Majewski • Date: July 29, 2025
Episode Overview
This episode explores ASD Insight, a first-of-its-kind diagnostic that uses a skin biopsy to identify autism risk biologically before behavioral symptoms appear. Dr. Jay Gargus and Michelle Majewski from NeuroQure explain how earlier clarity empowers earlier action and better outcomes.
About Dr. Jay Gargus and Michelle Majewski
Dr. Jay Gargus is the Founding Scientist at NeuroQure and a world-renowned geneticist with decades of leadership in autism and neurological research. He directed UC Irvine's Center for Autism Research and Translation, overseeing a $28 million initiative that led to the development of ASD Insight. Michelle Majewski is the Vice President of Sales at NeuroQure and the mother of a thriving 5-year-old son with autism. Her personal journey fuels her passion for bringing earlier clarity and support to more families.
You’ll Discover
The Science Behind ASD Insight (8:51)
What Is The ADOS Test And Why Is It Performed Too Late (12:09
One Mom’s Personal Journey (16:05)
The Traps You Don’t Want To Fall Into (22:42)
The Importance of Calcium Channels (29:43)
A Walkthrough of The Testing Process and How to Approach Your Pediatrician (37:59)
Referenced in This Episode
Full Transcript
Len Arcuri (00:02.798)
Hello and welcome to Autism Parenting Secrets. If you're a parent on this journey or know someone who's just starting out, what you're going to hear today could change everything. What if autism risk could be identified at birth or as early as one month old? It's not a theory, it's now possible. And a new diagnostic called ASD Insight uses a minimally invasive skin biopsy to detect
Now I'll rewind. A new diagnostic called ASD Insight uses a minimally invasive skin biopsy to detect biological risk markers for autism before behavioral signs even appear. It's a massive shift from the way autism has traditionally been identified reactively, usually after months or even years of delays.
So this test offers a new path, one grounded in biology and available at the very start of life. NeuroCure, the company behind this innovation, reached out to me and while I haven't used the test myself, I felt compelled to bring this conversation to you. Joining me are two key voices behind the science and the mission. Dr. Jay Gargas is the founding scientist at NeuroCure and a world-renowned geneticist who's led breakthrough research in autism and neurological disorders for decades.
and Michelle Majewski is a healthcare leader and mother of a young son on the spectrum, her personal journey fuels her passion to bring early clarity to even more families. ASD Insight is now available and this discussion will help you understand how it works and why it matters. The secret this week is, no sooner help more. Welcome to you both.
Dr Jay Gargus (01:55.673)
Thanks. A great motto.
Michelle Majewski (01:56.651)
Thank you so much for having us.
Len Arcuri (01:58.35)
Well, every episode. absolutely my pleasure. And yeah, every title of every episode is meant to convey in a bottom line way, what's the key message? And yes, with ASD Insight and everything that I know you're both here to expand on, I don't think anyone would disagree. Earlier detection, earlier understanding what's going on can, help a parent take actions that help and
Dr Jay Gargus (02:27.247)
Absolutely.
Len Arcuri (02:28.11)
And so the earlier the better, and that's where that concept is understood. This is something that's pretty groundbreaking in terms of how early you can, as a parent, have some data that helps you make some really smart moves early on. So I'll hand it off to, let's start with you, Dr. Gargas, in terms of the research you've done, the areas, you know, I'm sure over decades you've solved on, you've focused on many problems, problems that you want to solve.
what led to you getting to ultimately the release of ASD Insight as an extremely effective way to help parents.
Dr Jay Gargus (03:08.527)
So the journey begins back when I was an MD-PhD student at Yale, and I was in the initial class of human genetics. It was just becoming a field of medicine at that time. And I became a metabolic geneticist. did residency and fellowship training at Yale in the field. And in seeing the kind of kids that we were seeing in metabolic genetics.
A lot of them had neurodevelopmental disorders. And early on, it became clear that a subset of them were having a variety of metabolic signals, mild signals compared to a lot of my patients. But that became the lead in where I started getting referrals from around the country to see these children who had what looked like energy deficiency problems. And I was giving a talk at
the National Academy of Sciences, which is here on our West Coast campus. And I was approached by a gentleman who I didn't know at the time. He said he was very interested in what I was doing. It turned out he was Bill Thompson, the CEO of PIMCO. And ultimately, after two years of working with him, he launched our center, the Center for Autism Research and Translation here at UCI.
put together a consortium of $28 million and launched the center and also saw to it that I was allowed by the university to actually spend the money through all the faculty who are working with me. had 60 faculty working as a team and that really then became the overriding focus of my work until I now have joined NeuroCure in retirement.
Len Arcuri (04:56.206)
All right, fantastic. And in terms of, again, you've been at this for decades, the concept that this is only become a more prevalent condition, right, is not lost on you where this is, know, ASD has been around for a while now, but the pace at which it's exploding in terms of how prevalent it is, right, so that would be getting more of a case.
Dr Jay Gargus (05:18.309)
Absolutely. Yeah, I again, a simple vignette is when I was in the MD-PhD program, the chief of medicine would take the MD-PhD students to see the most exotic patients in the hospital, the most complex patients. And he took the team of MD-PhDs to see two boys with autism. Now, if I propose that to my medical students today,
they would say, what do mean? just walk up the street. don't need that. What makes you think this? So that just gives you, mean, what could be more crystal clear than that? Something is going on. think a lot of it is diagnostic, recognition. People know what it is now. They know to come about and see it. But there's no question that the frequency has gone up and we can't just.
completely explain that away. And I honestly don't know what the factors are. I don't think anybody knows what all is involved as the stressors, but they seem to be stressors of some kind. And that's basically all that I can know about that right now. It's hard to know the environment.
Len Arcuri (06:31.07)
Absolutely. No, everyone's got strong theories and I think it's probably safe to say, because again, I think any parent run from anyone who says anything with certainty on what's causing what's going on with your child. But the concept of a combination of some sense of genetic susceptibility, your blueprint, your wiring is such that perhaps with that susceptibility, which does not mean weak genes, it just means you have more of a susceptibility combined with
Dr Jay Gargus (06:57.039)
Yes.
Len Arcuri (06:58.254)
Toxins of all kinds like an environmental toxin explosion is what's happening and it seems to be it's the interplay of you know, basically epigenetics, right? It's your wiring coupled with what you may be exposed to in your row when you're young even before birth in terms of what the mother was exposed to some combination is likely to be behind why
Dr Jay Gargus (07:18.299)
A great explanation. Yeah, that's really a great explanation.
Len Arcuri (07:22.584)
Perfect. So with that backdrop, So we have a quote unquote problem or something that's happening at a much faster clip, all the more reason as a parent who again, when you have a child, all you want to do is to do right by that child, to make great decisions, to create a more helpful environment. And so with that being what every parent wants, talk to me a little bit more about ASD Insight.
and what went into development, how it works, Dr. Gargas. And then I'd love to hear Michelle's take in terms of her perspective as a mom. And I think our listeners would benefit from both of your takes on this particular diagnostic tool that truly is cutting edge.
Dr Jay Gargus (08:09.689)
Well, ASD Insight is really a first of its kind biological test that can identify autism. And it can identify it at the accuracy of the gold standard ADOS test, capturing the vast majority, not all, but the vast majority of children who carry the diagnosis of autism. And it's not picking up, it's minimally signaling.
on individuals who are neuro-typically developing. And what we are assaying actually is what we believe is a signaling focus through which all those variety of genes and pathways that play a role in neurodevelopment funnel. And it's a calcium release pathway. And we're able to have...
again, very sophisticated tools that can only be done by a couple of labs around the world, we were able to identify a specific molecular abnormality in how this channel is, how this calcium is handled in the cells. And that's the signal that we detect. And the thing that I think a lot of your families will tune to is that that mechanism, unlike the definition of autism that the neurologists give,
That same mechanism plays a critical role in how the immune cells get activated. It plays a critical role in how the gut motility and secretion work. Most remarkably, it even plays a critical role in the signals that come from taste buds. that it explains a lot of the food sensitivities and the skin sensitivities.
it plays a role in that kind of signal transduction. So I believe that autism is really this whole body syndrome. And I think that our mechanism that we're able to assay in a small skin sample, that that is probing sort of the foundational cause of what's going on as the inborn vulnerability.
Dr Jay Gargus (10:24.793)
that a child has. Again, we use the parallel like the cancer tests. If you detect that a woman has a breast cancer gene, she doesn't have breast cancer, she has a risk for developing it. And we think that's very much what we're trying to do here. We're trying to detect a vulnerability so people can take action early. And the earlyness is really important because so many, so many developmental steps
naturally happen in those first two years of life. And if you can cross those thresholds at a normal time, it makes a huge difference versus trying to do catch-up development to do it at a later date. So we think it's a real game changer that we're able to have a biological measure that can be validated. we have a whole variety of publications explaining how the test works.
Len Arcuri (11:22.392)
Got it. No, that's helpful. maybe just to rewind a bit, just in case anyone's listening. So you started out talking about the ADOS test, which is basically, and I'll let you maybe explain it better than I can. And I'm pretty sure my wife and I did it with our son. I don't even remember what the results were. seemed like every test we did were train wrecks in terms of where my son wasn't. But with the ADOS, that's basically an assessment, kind of like the standard to assess whether
a child is perhaps on the spectrum and it's all based on behavioral observation and it usually happens around age two. Is that all correct?
Dr Jay Gargus (11:59.225)
Yeah, it cannot be validated used earlier than age two. People stretch it down to 18 months, but the validity that's been published is at age two. And it involves an appointment with a clinical psychologist or neurodevelopmentalist. And again, those wait lists, those wait lists, you know, they're nine months to a year all around the country. It's not something you can walk in the door and do. And so even once a family becomes worried,
They have a long wait to be able to get in the door and have somebody test. So we think making it easy to have a very fast, simple test will, it has to have an impact on shortening that critical part of the odyssey. And I think that's a really very fair way to describe what happens. I think Michelle could tell you about what that process is like for families waiting to get a diagnosis made and how important it could be to have it done early.
Len Arcuri (12:58.06)
Yeah, no, let's go there now, but we'll quick comment on something that you said, right? This test isn't predictive. It's not definitive. basically is giving you information. And so that's where, yeah, let's go to Michelle and I'm going to tee this up for you in a different way, Michelle. So we're both parents. The right answer, right, would be for parents to be making moves early on without even needing a test like the ASD Insight test to clean up the environment.
Michelle Majewski (13:12.372)
Thank
Len Arcuri (13:27.758)
you know, get themselves healthy, do all kinds of things that set their child up for success. But often as parents will do something, but not maybe go full throttle, feeling like it's enough. the way I look at this test is that, you know, all parents know there's a risk that their child might have a condition like autism. And they know the things that they need to do, but a test like this might help you really sense, wait, I really got to take this seriously and not just hope that
you know, my child doesn't wind up on the spectrum. So with that as a backdrop, tell me about how you came to NeuroCure and a little bit more about your backstory supporting your son.
Michelle Majewski (14:08.19)
Yeah, and I think it's interesting the way you just said that, like, we all know the right things to do, right? How to eat a clean diet and keep the toxins out and the products that we use. But we, you know, feel like we're doing the best that we can until there is this maybe diagnostic test that just says you have to drop everything and do it better and faster, right? Because now we're in the critical times. And the way you introduced that, I liken it to,
what Jay mentioned earlier in the kind of cancer genetic testing. I previously worked for a genetic testing laboratory and when you get a test result that you have a pathogenic mutation in a specific cancer gene, then it's, sure you should have been doing everything great before, but once you have that diagnosis of that mutation, now it's like an extra push maybe.
to make better choices in your life. Now, when we're talking about your child, now you really step into action, right? Because they always get your focus. You take care of yourself last when you have a child.
So my son was diagnosed when he was 20 months. At the time, he was the child that we really felt would probably live at home forever. We brought him for a hearing test. We thought that he had lost hearing. And I'll never forget the feeling when he was in that sound booth and the sounds were going off and he started looking at where all the sounds were coming from and I started crying.
Because at that time, I thought that him being deaf was a better outcome than something else because I felt like there wasn't somebody in there. And it was a sad, awful time. Now, that being said, I'm extremely grateful that my son is not deaf because now the lights have turned on.
Michelle Majewski (16:19.646)
We got that diagnosis so young that we got to do all the things. You know, he didn't, we got to change his diet. He's five and a half now. And if you were to meet him today, you likely wouldn't know that he had a diagnosis. I think I mentioned that earlier. He's five and a half. His favorite food is salmon. Now he's an incredible eater. The average age of diagnosis in the United States, it's five years old right now.
How do you change a five-year-old's diet that has sensory things and you can't change the texture of their food? And now they're going to continue to eat processed chicken nuggets because your child needs to be fed. So while I'm so grateful that we had all the things, we had all the services, the dietary changes, we did some more holistic things, more conventional things, we did...
Literally everything. He's an only child for that very reason. I often look at what if he was diagnosed even younger? At the time, that was certainly not a possibility, but now it is. And how would things be different? now I, man, when I heard about ASD Insight, it's truly like a mic drop for the autism community. There's just no other way to describe it.
So I just feel so passionately about this task that I had to weasel my way into neuro care. I heard about the science about a year ago and I reached out to Dave Justice, our CEO immediately and just said, thank you so much for the work your team is doing. It's life-changing and that is a fact, life-changing for these families.
And then we just continued to keep in touch and I just had to be a part of it because it's life changing. I keep repeating myself, there's no other way to say it.
Dr Jay Gargus (18:18.501)
Well, think, Michelle, you made an interesting point of just sort of saying it in passing, and it happens a lot. said, of course, he's an only child for that reason. And we think really one of the very important places where ASD Insight can play a role is because of this high recurrence risk that families have. And again, we know current published studies show 20 to 25-fold increased risk if you have one child or the other child.
And we think that's going to be a very important barrier that we can help address that you can know early. I mean, even that the obstetrician can know that if you're having the child circumcised, he's not going to throw the tissue away. He's going to put it in a tube and send it off to neurocure and we'll be able to work on that and get a diagnosis back to your doctor, you know, within a matter of weeks.
to know that kind of information that you will be able to know very early on in another child's life. I think it might change that whole dynamic. I don't know. I think that's going to be a real target audience that will be very interested in the test.
Len Arcuri (19:33.614)
Yep. Yeah, no, think there's so many, I mean, we don't have enough time to talk about all the ways that just having this information, right? This data can really inform changes that you can make. And again, some of those changes may be harder than others. Some may be super simple and easy to work in. yeah, Michelle, I love how you talked about from a diet perspective, because there is no question if you polled parents and said, okay,
you know, with kids who are, let's say older, in a five, six, seven, whatever, what's your biggest challenge? It's amazing how many times picky eating and diet issues come up. And it's because, yes, the foods that most kids are served are super addictive. You know, they're designed that way and they have very little to do with nourishment of a body that needs nourishment more than anything. if, yeah, just as that one thing that maybe you do, say, you know something, we're going to take diet seriously, eat real food.
not eat food that has poison and chemicals and pesticides on it. Just that one move can make a gigantic difference. so, and then again, there's toxins of all kinds and we don't have all the time to go through all that. But at least in my mind, yeah, having this information would have at least for me said, okay, I need to at the very least play better defense. And our daughter was born about a month after our son was diagnosed. And I wonder if it was later.
further my wife would have decided not to have another child. we had learned enough about what we were seeing with my son that we did start making changes early on with my daughter that made a huge difference. So again, more information can help in so many ways. And it's not like a test where other tests that you can do even in utero where you make a decision on what to do about the baby. We're not talking about that at all.
Dr Jay Gargus (21:26.659)
No, not at all.
Len Arcuri (21:27.906)
These kids are gifts. These kids are incredible souls here on purpose. But if you get screened and have a better idea that your child's more likely to be somewhere on the spectrum, again, I think it just, it would put me over the hump of saying, okay, I can't roll the dice. And now it's time. It's the time fraction is now as opposed to being reactive to some diagnosis or some behaviors that
Okay, now you got my attention. So this is experience attention earlier.
Michelle Majewski (22:01.482)
I'm a huge proponent of knowledge is power. And it's so easy to put your head in the sand when it comes to your child and try to ignore things or listen to what you want to hear of, a lot of kids are delayed or they'll catch up. It's just easy to kind of fall into that because it's hard to get your head wrapped around. But the earlier you have the information,
it's the more you can do to give them the tools to live their best life, right? You know, I allowed myself to kind of grieve, you know, the child that I thought I would have for a couple of days. And then I was like, all right, let's get to it and go into research mode and all of the things that can make a positive change. And because we did it so early and did the hard thing and changed his diet.
You know, his outcome has been incredible. And now the child that we thought was going to live at home forever, we had him IQ tested. He has a gifted level IQ. He's in pre-K and he reads. He's funny. He's joyful. He's an amazing child. And I just want to clarify when I said we had one kid and only one for that reason, it certainly isn't because he's on the spectrum. It's because of all of the things that we had to.
you know, hurry up and put together and do it. But now I think, you know, now I'm old and won't have another child. But, you know, if I were 10 years younger and this technology was available, it would not stop me from having another child because things have changed and there's more information out there and we could know earlier on. And I just think that it's this test is a gift to families to be able to just really get their kids on the right track and have.
you know, more positive things to look forward to.
Len Arcuri (23:57.934)
Right. No, that's great. Well, thank you for that clarification. Yes, I totally get where that diagnosis and you receive that and then all your energy, your time, money, all that, it's going to be focused on responding. so, that is not lost on me at all. I think one other just way of just me kind of characterizing this, again, I'm going to personalize it.
Dr Jay Gargus (24:09.721)
Exactly.
Len Arcuri (24:23.968)
I think this is similar to what was happening with my son with respect to, mean, yes, he had moderate borderline severe autism. He's wildly unrecognizable now, but you know, so we had autism ASD that were challenging, very challenging. And we also had life threatening allergies for my son that were also and still are a huge challenge.
Dr Jay Gargus (24:44.133)
And it's very common to have things like
Len Arcuri (24:47.98)
Right, very much. And we could probably have a separate episode just on the reasons why that's the case. But the way I look at this and the analogy I'm going to try to put out there is that knowing who I was back then, if somebody told me, hey, listen, you got to clean up the diet, gluten-free, dairy-free, glyphosate-free, whatever case may be, I would have been trying to find every reason not to do that diet because, I'm Italian heritage, lots of ...
Michelle Majewski (25:14.378)
you
Len Arcuri (25:15.414)
gluten dairy or kind of mainstays, Italian diet. But I would have said, you know, the diet thing may not, it may not be anything there. Let's not take it too seriously. My wife was fully ready with the food thing and she led the way there. But, but I guess what I'm to exactly. Yeah. I like to think her and I together. Yes. One plus one was three in terms of responding, but no, we each brought different things to the table. But with my son's allergies, I would not have taken it as seriously.
Dr Jay Gargus (25:17.04)
Hahaha!
Michelle Majewski (25:27.956)
Way to go, mom. It's always the way, us moms. We got you, kids.
Dr Jay Gargus (25:29.345)
You
Len Arcuri (25:44.064)
If we didn't then have blood work that showed that not only does he have sensitivities to those foods like gluten and dairy, but he had true IgE allergies and particularly with peanut, it's the highest possible level. So basically those IgE blood labs for me said, okay, guess what? You have no choice but to take this seriously and to change the diet. It's not optional. And that's why I always applaud parents who clean up the diet and remove inflammatory foods for their...
even without knowing that they're truly allergic, right? And I think that's where this test comes in, where if you get a test like this and there's clear indications that you need to start taking action now, you can take action now. I mean, that I think will prompt action, whereas I think most parents would be like me saying, yeah, I'm not going to be in that percent that falls on that spectrum. And again, fingers crossed approach, which does not work.
Michelle Majewski (26:41.634)
Rain.
Dr Jay Gargus (26:41.849)
Yeah. And I think, and maybe it even helps to know that this signal that we're looking at actually plays a critical role in all these, IgE antibody activation. That happens through signals that the cells receive. This signaling abnormality perturbs that exact process. The exact process of how taste buds handle
different food substances, that signal gets sent abnormally. So it's not surprising that they have abnormal food preferences. Foods don't taste the same because their sensory signals aren't the normal sensory signals. And again, I think it's just such a disservice to the autism community to say, those are separate problems. That's not...
his autism, that's something else that's going on. think more than anything, identifying this signaling abnormality tells us, you know, it's all part of it. The energy deficiency that we see, we know that that mitochondria energy comes by being controlled by these calcium signals. All these kinds of things that seemed like very disparate little pieces of a puzzle, well, they all work through this same common
signaling pathway that's found in all the cells of the body. So I think it helps the parents understand that as well, that they're going to be addressing the core problems that are fundamental to all the different kind of manifestations that they see in the child.
Len Arcuri (28:28.238)
That's great. And if people want to better understand the science and behind this, right, in terms of the calcium signals on your website, you have a lot of that research.
Dr Jay Gargus (28:36.481)
We have all the publications there and I'll be glad to go through it if someone wants to hear the details. But it takes a while to go through all the details. But I can just tell you that it took a team of 60 scientists working for eight years to put together the process that the University of California ultimately patented and that NeuroCure took as a licensed patent.
Len Arcuri (29:00.43)
Perfect. All right. Well, I appreciate that. And as you're talking, my brain's spinning only because, you know, going back to this idea playing better defense, one way of playing better defense is also kind of doing what you can to reduce EMF exposure, electromagnetic fields for a child, right? Who again, much more susceptible to harm. And I know that the way EMF exposure actually does wreak havoc in the body, not just in the child with autism, but all people.
has a lot to do with these voltage gated calcium channels within the cell. we talking about the same type of thing or is that a different calcium signal?
Dr Jay Gargus (29:34.181)
So it's not the convey... Ours is a very tricky channel to be able to see. The ones that people classically talk about as voltage-gated calcium channels are found in the membranes and they play a critical role in heart arrhythmia disorders, seizure disorders, things like that. This channel is inside the cell. It's an organelle. It's inside and it couples directly to the...
to the mitochondria, the energy producing factory of the cells, and it controls the rate at which the mitochondria make energy. So it's a very fancy technique. It really involves three different Nobel Prize winning technologies coming together to allow us to study this intracellular calcium channel. while it does have, it's structurally very similar to those channels and it plays a role.
a lot like those calcium channels, but this is the final push that gets the vesicles to fuse with the membrane and push the signal across the synapse in one nerve cell talking to another nerve cell. So it's a final effector pathway. The voltage-gated calcium channels, know, a lot of medicines are directed, and that's what we think is a very hopeful sign, is a lot of medicines can be targeted.
ion channels. And while we're not in that world right now, we're hoping this is a step in the direction of giving a mechanism against which one might be able to find some kind of therapeutic. Certainly, we've already discovered drugs that know how to close ion channels, and we've discovered drugs who know how to open ion channels. So again, I think that's going to come with time, but we thought
The important part right now is we have something that can identify the disorder. already are very good therapies in place to start treating kids. Now, maybe someday in the future, there will come to be a drug that actually attacks the machine itself that's not working normally. But that's not for right now. For right now, we just wanna know and empower the parents to know that they need to start acting.
Dr Jay Gargus (31:57.925)
as soon as possible.
Michelle Majewski (32:00.274)
And then they can use personalized medicine from there, right? Every child is different. child has different needs. Everybody's healthcare providers are going to follow a different type of philosophy. Every family has a different philosophy, but they have now the information they need to start, you know, their own diagnostic odyssey, you know, in whatever works best for their family. But no harm is going to come from
cleaning up your lifestyle, right?
Len Arcuri (32:30.51)
Yeah, no, but the ASD Insight is a data that didn't exist before that could be added to, again, whatever you might be doing with your practitioner from a personalized functional medicine or a maps doctor, which many of our listeners are maybe working with a maps doctor, like a biomedical or a functional medicine provider. So again, there's lots of data that you can get on your child. This is now one that didn't exist before. And maybe Michelle, in terms of your prior...
role, my guess is still having some functional genomic testing about the blueprint, how your child's wired. That would also be useful to have, again, as you're piecing together what's going to help your child the most. Would you agree?
Michelle Majewski (33:13.822)
Yeah, I mean, I'm not a medical doctor. And I know that your show is not to give medical advice. But I very much believe in whole exome sequencing and whole genome sequencing to help guide your decision making. Again, because of personalized medicine, we know that autism is not solely a genetic condition.
Len Arcuri (33:16.492)
Yes, very perspective.
Michelle Majewski (33:41.097)
Right? But at the end of the day, we also only know about what 25 % of the genes in our body even do. You know, there's still so much more research that's happening, which is really exciting. And so, you know, with my background, I'm always a proponent when it is appropriate for the person to have genetic testing done without question.
Dr Jay Gargus (34:05.039)
But I want to make the point, my center was one of the 10 centers involved in the Autism Sequencing Consortium. So all of the gene discovery happened, mean, overwhelmingly through our team. And it's very clear in publications that you can't just read DNA sequence and make a diagnosis of autism. It doesn't do that. We think there's a tremendous synergy between doing that and our test.
and might guide you in different kind of ways. But again, the whole notion that one can read DNA sequence, and again, we had 185 genes identified as being very importantly involved in the numbers, probably three times that in work that's coming out now. So you can't safely, you can't meaningfully, you can't scientifically read DNA sequence. And there are a number of papers that explicitly
say that from groups that do a lot of the DNA sequencing. So I just wanted to set that pretty clear.
Len Arcuri (35:06.072)
Right.
Yeah. And that's what makes us a little bit tricky as parents try to figure out what's out there, what might be helpful. But again, any kind of functional genomic testing that you might do to just get an idea of what your child's blueprint is, this is information. These are clues. It doesn't mean it's anything, again, not determined because your genes are your genes, but if you don't have certain environmental triggers, no genes may not be an issue whatsoever. that's where, right? Yeah.
Dr Jay Gargus (35:25.317)
I think that's a fair way to say it, yes.
Michelle Majewski (35:35.498)
Ding ding ding ding ding, yes.
Dr Jay Gargus (35:38.415)
Yeah, yeah.
Len Arcuri (35:38.604)
And that's different than some of the early genetic tests that are done in terms of looking for specific conditions. So it's such an evolving, rapidly changing field, again, with a lot of promise. But again, any practitioner is going to say definitively, here's the test and now I know exactly what you need to do, that's probably not somebody who's really got the...
Dr Jay Gargus (36:00.445)
We're certainly not there. But you know, and I think a very important paradigm is the situation that we had as a metabolic geneticist with the disease PKU. People have probably heard about that. That's the test that started all the newborn screens. It was one of the very common causes of autism and low IQ. I mean, it was a devastating disorder. And then you change the environment, one little change of the environment.
to eliminate, to minimize the phenylalanine, one of the amino acids, and now fixed, all better. So, I mean, it is a remarkable, I think, useful paradigm that we already have a lot of diseases for which we know, yes, it's a genetic disease, yes, there's a genetic risk, but you can change the vulnerability of that child by just making...
critical adjustments to the outside world. So yeah, I think that's a useful story anyway.
Len Arcuri (37:07.224)
No, it makes sense. makes sense. Well, this has definitely helped me just, again, better understand this particular test, again, where it fits in, how it can help, in terms of parents who are intrigued and want to move forward. know they can go to your site. I'll include everything in the show notes, but it's relatively simple, is my guess. Maybe you could just talk about the process, high level, what it looks like. And I know this is early on.
Whether this is something that the parent invests in this test, whether it's covered by insurance or not, that's probably to be determined, right? Something that's in the works.
Dr Jay Gargus (37:42.723)
I think it's better if Michelle started on this one,
Michelle Majewski (37:45.693)
Yeah, so with any new diagnostic test, it does take time to get insurance coverage, of course. I feel really, really good about how we have been able to reduce our patient out-of-pocket costs, knowing that patients were going to be paying out-of-pocket. We know it's not going to be affordable for the entire population, but we do know that it's less expensive than going through a neuropsych evaluation.
that your insurance isn't covered on. So the cash price is $949. And I just, I think there's a lot of families that are going to find a way to afford it because it's life changing. We certainly have high hopes that it's gonna have insurance coverage. Unfortunately, nothing comes out the door with that. We're working really
We have an amazing team of people that are working towards that. I'm forgetting the other part of your question. Sorry.
Dr Jay Gargus (38:49.797)
Well, it's a test that's ordered by a physician. So can either be one of the physicians who's already treating your child, but if you're sort of stuck, if you don't have anybody who's willing to listen to you, we have the ability to have the family themselves contact through the website. And we have a team of a thousand physicians around the country that can do web-based visits with them, order the test,
We have nurse practitioner teams that will go out and do the test at your house and send it in. you know, the results then come back to the physician and they share the information with you. We have a team of 40 genetic counselors to support the physicians. And then after the physician gets the information and conveys it to you, he can make those genetic counselors available to answer your extensive questions.
So we think, you know, and we also like to put people in contact with information services like yours, like TACA, like Autism Speaks. We think that those are all important sources for people to get all the support information that they can.
Len Arcuri (40:06.136)
Perfect. Yeah, no, I appreciate you painting that picture a little bit. Yeah, Michelle.
Michelle Majewski (40:07.017)
out
I'll also add we're working really hard to educate providers. So general pediatricians, OBGYNs and the like. But just remember they're tasked with so much. A general pediatrician is doing all of the things. They're treating strep throat and ear infections. So don't wait for them to...
pick up on anything that might be different about your child. You're their parent, you're their advocate. And if you learn about ASD Insight and ask them about it, and we haven't had the opportunity to educate them, don't stop there. There are other resources for you, but also, you can take that opportunity to direct them to our website and educate themselves. And Dr. Gargis is always willing to.
You know, do the education, it's again, way above my head. I don't understand half the words that come out of his mouth, but every provider that we've talked to, we've done a lot of grand rounds, they all very much understand it and are fascinated with the science. You know, I think I've said it over and over and over again, it's a mic drop to the autism community, but don't wait for somebody to bring it to you and don't be.
know, alarmed if your general pediatrician is unaware or unwilling to support you in this endeavor. Everything that is new takes time.
Len Arcuri (41:41.902)
Yeah, that's very true. And yes, with your relationship with your pediatrician, you again, you can raise this with them, get their input, but I found it's a really good, not a litmus test, but a good way of screening whether you have the right pediatrician. Is that person curious? Do they keep up on what's happening or are they still kind of just providing guidance based on what they learned 20 years ago? You know, so I think having that right pediatrician is key.
And I would think the right one would be open to hearing about this and perhaps wanting to better understand it. And it's great that you're set up in a way to do that education, which has to be a big part of how you help these providers become better aware of what you do.
Dr Jay Gargus (42:23.993)
but even a very engaged pediatrician may not have the three hours that it takes to do the ADAS test. And he might be able to very easily in a short period of time order ASD Insight and you can at least start the conversation there.
Len Arcuri (42:32.003)
Right.
Len Arcuri (42:39.394)
We'll see if he comes back.
Len Arcuri (42:47.726)
Are you back, Dr. Gargis? Yeah, you kind of froze up a little bit.
Dr Jay Gargus (42:49.283)
Yes, I'm sorry. Was I the one who got dropped? I'm sorry.
Len Arcuri (42:52.814)
You just froze up, but this is easy to edit. No worries.
Dr Jay Gargus (42:56.145)
okay. Yeah, I'm sorry. What I guess the answer I was giving is that, you know, even the right pediatrician might not have three hours to do an ADOS test to give you a definitive diagnosis. So we feel that just the simple availability of the test will be life-changing for the child. And, you know, we've so far talked about this in terms of young children, but what a lot of
newspaper articles recently have been talking about is this huge increase in the prevalence of autism among young adults. And there the hurdle is huge because nobody's watching their neurodevelopment. There's not going to be some kind of an issue. But if there's a readily available test that could alert practitioners to this risk, it again can...
shorten the odyssey. Again, that's always the problem. People are bouncing around from doctor to doctor to doctor trying to figure out what is the problem. Well, at least get a start on it. Maybe it is autism. Maybe that's what you are looking at and you can get a you know, a quick peek as to the vulnerability for that problem.
Michelle Majewski (44:11.732)
I think it's important to also mention the community piece of this, especially as it relates to adults being diagnosed. There was the article, I think that Dr. Gargis is speaking of in the Wall Street Journal recently that speaks to this, but it gives these people.
little bit of grace maybe to help them understand why maybe they've had challenges or maybe they're a little bit different than their peers. So from a mental health standpoint, it's kind of an answer that can help them with like their inner peace if that's been an issue for them. But also the autism community, when as you know is unbelievable. I mean, it is an unbelievable group of
kind humans that want to help and support each other and being part of that community. You can ask all the questions and get answers and understand that what you don't know, you don't know, right? Because people are there to kind of support you along the way. So as Dr. Gargas mentions, it's not just the pediatrics. This happens at any age.
Of course, know, pediatrics when it comes to early diagnosis and brain develop and all of those things, but that doesn't mean that it's not also impactful for other age groups.
Len Arcuri (45:36.69)
I appreciate that clarification. again, there's lots of applicability to this for a parent, regardless of what your child's age is. And yes, anything that's cutting edge or new, it's going to take time. And really it comes down to, you know, return on investment. You know, is knowing earlier, how important is that? How, how worth it is having that information, whatever it is. And, and that's where.
You know, the things that made the biggest difference I know for my son required an investment and my wife and I then taking action. And so what's great about this is as it becomes more established and maybe the cost comes down and it becomes something that's covered by insurance. But I would just invite listeners to just weigh that question. What are costs and what are the potential benefits to having this information earlier?
And I found, yeah, in many areas, the ROI was exponential and this very well may be one, particularly for parents who are just starting out. I really...
Michelle Majewski (46:39.998)
And what is the cost of not doing it? Because that comes with cost as well.
Len Arcuri (46:46.35)
No question. And what I've found, as long as we're diving into this, whenever it comes to decision making, I think a big error parents make, and I say this because I made it too, is even if you get to the point where you're making a cost benefit decision, it's easy to focus on the short term and to ignore the long term. Not only the long term costs, the long term benefits. And if so, if you take a long view, I think whatever moves a parent can make early,
Dr Jay Gargus (47:07.673)
That's.
Len Arcuri (47:15.758)
You know, again, that have that potential for a long-term benefit that exceeds the costs. Uh, you know, that's where, you again, every parent can decide what's right for them. Uh, but if you can remove yourself from the day to day and the tactical and just play the long game, uh, some decisions become much, much more clear. uh, no, I really appreciate you expanding on this opportunity. Again, new cutting edge. There'll be plenty of links in the show notes for people to.
Michelle Majewski (47:34.73)
great advice.
Len Arcuri (47:41.61)
learn more and just really appreciate you both taking the time to expand on this for our listeners.
Dr Jay Gargus (47:46.821)
Thank you so much, Really, yeah, it's very, very helpful. Thank you.
Michelle Majewski (47:48.532)
Thank you for having us.
Len Arcuri (47:52.387)
Thank you.
