Is autism genetic?

Hey, hey, DNA. I'm Kate Wilson, the host of All Access DNA.

Today, we are talking about autism and genetics with Dr. Chaya Morali. We discuss why someone may have genetic testing for autism, misinformation about being neurodivergent, and why empathy is essential in medical care. We also talk about the dangerous and dismissive messaging surrounding, quote-unquote, solving autism, and associating vaccines with autism. Dr. Morali is a pediatric geneticist and personal essayist in Houston, Texas. Let's get started. Music.

Today we are talking to Dr. Chaya Morali. Thank you so much, Dr. Morali, for being on the show. Thanks so much for having me. I'm really excited to be here. So first off, I know that you work with families and children who have genetic conditions. So I'm hoping you can just tell us more about the work that you do. Yeah, so I'm a pediatric geneticist by training. And so I see these patients and families in the clinic a lot.

And I actually got interested in genetics when I was quite young. I was 18 years old. And I lived in Houston, and I still work here, actually. But I was a volunteer at Texas Children's Hospital, which is now the hospital that I work at, which is kind of amazing. I was like, that's very cool. Yeah, it's very full circle when I stop to think about it. But at any rate, so I was a volunteer as a high school student there.

And they had a program that you have to apply for if you were a high school volunteer, where you could apply to be mentored by physicians who worked there. And so I applied once, I didn't get in. And I applied the second year and I did get in. And they randomly assigned me to shadow with three different specialties. And one of them was genetics. And before that, you know, I had been interested in science sort of generally. I really liked genetics.

And I actually really loved writing and reading. That was kind of my biggest passion. And so my parents were very eager for me to be a doctor because it would be a very stable career, but I wasn't necessarily so eager myself. But when I got interested or exposed to genetics through that one week of shadowing, I just totally fell in love with it. And I really felt like this is what I'm going to do if I'm going to do it.

And so when I got to med school, I knew that I still really loved English and writing. I studied it in college, but I wanted to find a way to integrate that with genetics. And so I was able to put together a program with some mentorship from folks in the genetics department, again, that I now work at, who helped me kind of put together a creative writing workshop series for kids affected by genetic conditions.

My initial goal was to have people, you know, kids join who actually were affected themselves, but often it ended up being siblings of children with genetic conditions. And we would just meet up with them and pair them with medical students and have them kind of write about their experiences. And so it was a way for these children to be in a place where they didn't have to explain and over explain their lives and have like-minded people talking with them.

And it was also a way for medical students to learn about people living with genetic conditions outside of the clinic. And so it wasn't just about their medical aspects or them suffering per se when they were kind of in the hospital or admitted, but it was about them as a person. And so that was a really special experience for me. And we were able to write that up as a paper in American Journal of Medical Genetics back when I was in med school, which was super cool.

And so ever since then, I've always kind of wanted to find a way to integrate my love of genetics into research that is about the lives of people with genetic conditions. And so a lot of my work has been, my research has been around quality of life and improving quality of life and lived experiences among people with genetic syndromes or diagnoses. I love that. I love that you were able to combine your interest in genetics with your passion for creative writing.

And not only for what you've been working on, but then to help that along with patients or their families, kind of as they're maybe adjusting to some diagnosis, or they're just kind of looking to get out some of the things that they have inside. That's exactly right. Yeah. You know, it's one of my long-term kind of one of my goals in Pipe Dreams is to design a larger study and really kind of try to prove that this is improving people's quality of life or their mental health.

One of the challenges with rare disease is that it's harder to recruit. And if you recruit a group of people with any kind of rare disease. Then there may be differences in their kind of baseline status and functional abilities that make it difficult to compare across a large group. And anyway, this is getting into a different topic. But all that to say that one day I hope to prove that it really does help people, but I can say kind of anecdotally that it's a wonderful thing.

And honestly, it's not just the families and patients who benefit, it's the people who are interacting with them as well, the medical professionals who have this community that we build. And in fact, now that same creative writing workshop I did when I was a medical student, I had to drop it. Of course, when I went to residency, I went to residency elsewhere and I was

much busier. But a couple of years ago, a medical student here at Baylor approached me and we started doing the workshops again and he ran them. And we really did find that there was this community that we were building that was really special. Again, it's hard to kind of keep up any project like that and recruit and get people to come regularly. Everyone's busy. But the times we've been able to do it have been really wonderful. Yeah, yeah.

And I love that it's been, like you said, full circle, but not just kind of you coming back to the place where you shadowed or interned, but now working with other people who are going through training and helping them kind of carry on some of these community groups and studies.

One of the things that people may not be aware of, you know, folks that are outside the genetic sphere, how does working with families and children with genetic conditions, how does that overlap with people diagnosed with autism?

That's a great, great question. So as it turns out, many people with various genetic diagnoses may also have autism or people with autism that doesn't seem like it's part of a larger syndrome, right? Multiple kind of parts of the body affected or things like that may have a genetic cause for their autism. And so one thing that I often tell families or people in the community that always surprises people is that a lot of people with Down syndrome also have autism and vice versa.

And well, not vice versa necessarily, but many people with Down syndrome do have autism because I tell families that autism can be a symptom of a genetic diagnosis. And so if you have Down syndrome, one of your symptoms can be autism. If you have Williams syndrome, which is another named syndrome, although it's much rarer, so many people haven't heard about it.

But if you have Williams syndrome, you may have autism. and in fact many people I think have been exposed to more people with autism through that Netflix show Love on the Spectrum which is so lovely and so heartwarming and there was a child or actually an adult who was on the show that I watched a few months ago the most recent season and I looked at her and I was like I really think she might have Williams syndrome and I sent it I took a picture of her

and I sent it to a friend of mine from training and I was like do you think this girl has Williams syndrome and she said yeah I bet and so you know it just goes to show that you can have different genetic syndromes and have autism as a as a symptom of it and so well there's that aspect of it.

And also, in general, anybody with autism, most professional societies that are kind of worth their salt, recommend that children who are diagnosed with autism undergo a genetic evaluation because there may be a genetic cause that's identifiable. And so I see patients kind of from both ends of the spectrum.

Either they have a genetic diagnosis and one of their symptoms is autism, or they just have autism to start out with and they come to see me to try to figure out if there's a genetic cause underlying it. Yeah, I was going to say that when I was doing a pediatric internship, I think that was one of the more common referral reasons or indications was often autism, unexplained autism, so something where they kind of had been evaluated, got.

Given that diagnosis, but didn't necessarily know what had caused it at that point in time.

Yeah, that's exactly right. Yeah. So can you tell me a little bit about kind of, is it a simple question to just say, is autism genetic? Is it inherited? I mean, is that a yes or no? I think that's a great question upon a question upon a question.

So what I would say is that I think if you ask any medical professional who at least has a little bit of knowledge about this, they would say that autism is at least partially genetic, if not completely explained by a genetic cause in many people who have autism. So there are other things that can predispose you to autism. For instance, being born premature, especially really premature, not just, you know, 36 weeks, but 24 weeks.

People who are born beyond a certain level of prematurity do have a high risk of autism. And there are other things that can increase your risk too, such as in utero exposures to certain substances and illicit drugs and things like that. But putting all that aside, aside from those kind of very clear non-genetic causes, there are many, many, many, many people whose autism is caused by a genetic cause. In fact, probably most people's are.

The trouble is that, well, maybe this isn't the trouble, but the limitation that we have right now is that if you test every single person on the street who has autism with all the available genetic testing that we have right now, we still can only diagnose about 30% of them with a known genetic cause.

If you add on other symptoms that those individuals have, so for instance, if you have autism and you have developmental delays, or you have autism and you have intellectual disability, or you have autism and you have seizures, then the likelihood of getting a diagnosis becomes higher and higher. But even with that, I think the highest is maybe autism and seizures, 60%.

So it's still not 100%. And what that tells me, it's not, that might, kind of an independent observer may look at that and say, that means that not everyone's autism is genetic, which is possible. I will allow that. And I think all scientists will always allow any possibility. But the more likely cause of that is that we just don't know how to look at the genetics in every single way we need to yet. So right now, what we're really smart about is doing genetic testing to find

a very obvious change from what's considered normal. So we have, you know, a certain spelling of our genes. And so this is a very obvious misspelling. Like if you imagine a gene as a recipe, changing sugar to salt. That's very obvious, right? That's a big, big picture change. And then we figure out that if you change sugar to salt, then that's a very clear cause of a genetic disease or a genetic problem, which could be autism.

That's what our genetic testing and our knowledge is calibrated for right now. What we're not calibrated for is something called polygenic testing or polygenic causes of disease. Or when I say disease, I'm using that term lightly. That can include autism, which is neurodivergence, right? But polygenic causes or polygenetic causes of things is more like maybe you have a recipe book that includes a recipe for pizza dough, pizza sauce, and the toppings, right? How to prepare the toppings.

And you don't have sugar change to salt in one of these recipes. But what you have is instead of maybe tomato sauce, you have tomato paste. Instead of maybe oregano, it says to do rosemary. And so there are all these subtle changes that kind of add up together such that the final product is not going to be what you expect. And so that's kind of what we're not able to detect right now with our genetic causes. And so the genetic version of that would be.

Multiple genes that interact inside your brain signaling or other parts of the body. And we know that the protein products of those genes interact biologically. And there are subtle changes in the coding for each of those proteins that doesn't look like a problem when you look at it in its kind of individuality. But if you were to look up the pathways together and say, okay, all these changes together make it such that this pathway doesn't work well.

And ultimately that might lead to autism or any other condition such as diabetes or other things that are common, but do tend to be inherited in families. I hope that makes sense. It was a little bit of wordy. Well, I think the takeaway is that it's not, yes or no, it's not black and white, right? There's some nuance, there's some complication. So I think some folks may think in terms of like, oh, it's a genetic condition.

That means we know the gene that causes it. We can test you for that gene. But for autism, there's no single gene, right? There's not an autism test. That's exactly right. Yeah, there isn't one single gene that we can test for, so it's not simple by any means. So that's one of the complications. And the other thing, you were asking if autism is inherited or if it was genetic. So we talked all about how it's genetic. And is it inherited? Yes, sometimes. No, sometimes.

And so there are certain genetic variants that can cause a person to have autism. That they might inherit that variant from their parent, but the parent does not have autism. And that is a concept in genetics that we call penetrance, like whether or not the genetic variant penetrates through and causes a symptom in the person.

It can also be what's called variable expressivity, where the parent may have ADHD because of that same genetic variant, but the child has autism because of that same genetic variant. And so it can kind of present differently in different families. So kind of the tendency for autism can be inherited, but just because your child has autism and you have the same genetic cause that caused them to have autism doesn't mean that you have autism. And that kind of goes across all genetics of autism.

What I tell families is it's not predictive. You know, sometimes people will say, well, if we know the genetic cause in a family, maybe we can test for it prenatally. Maybe we can prevent having a child with autism. And of course, that gets partially into the complications of, you know, disability rights. And is neurodivergence even a problem? And, you know, people with autism would just say it's not, right?

Autistic individuals say we are just different. And for us, it's normal. And we deserve to exist. Leaving kind of aside, and I don't disagree with any of that, but leaving that aside, even if you knew what genetic cause causes autism in a family, if you tested an embryo for that and found, yes, they have it or no, they don't, that doesn't necessarily tell you if they're going to have autism. Just because I have a genetic cause for autism inside of me doesn't mean I will

develop autism. And so it's layers upon layers of complication. But at the end of the day, what I'll tell families is if your child has autism, it can be helpful for them to have a. And then we'll go from there. Yeah. And I think that that's important to note is even if it is that percentage that has a genetic cause, it doesn't necessarily mean we can predict all the things that are going to come from that genetic change.

That's exactly right. Right. So it's all still going to potentially see how things develop in that person. And so you say that that's kind of the first step. So somebody comes in, their child is being seen by yourself, somebody like yourself in the clinic. So you talk about that you would recommend genetic testing, or a lot of the societies recommend genetic testing. What would be the point of genetic testing? So what does it tell the family?

Yeah, that's a great question. So one thing I always tell families to kind of be aware of is that, as it is with many genetic syndromes, even though we're making progress, for the most part, if we identify a genetic cause of anything in a person, we can't change it, usually. Even if we know it's a misspelling in this gene and people hear about CRISPR and they're like, can we go change it? Can we do this or that? Unfortunately, we're just not there with our technology for most genetic conditions.

And that includes conditions that affect the brain like autism. So that's one piece that it won't really help with, frankly. The thing that it can help is one big thing is kind of medical stuff. So if I find out that a person has autism from a certain genetic cause and it turns out that people with this genetic cause of autism also have a high risk of seizures or they have a risk of abnormal heart rhythms or kidney problems or whatever it might be. I'm just kind of listing off possibilities.

Then we are aware of that. The families can look out for that. We could send them to the appropriate resources or referral centers to get tested or surveillance to look out for those things. So that's kind of a very like obvious material benefit that can occur. And the other stuff is a little bit more squishy. It's more just about kind of the way you feel, which is, of course, what I'm really interested in research wise.

But one part of it is, you know, knowing the cause of the autism can sometimes be reassuring for families in general. I think a lot of families and a lot of parents, and it's natural, whenever anything is going on with your child that you're worried about, you might say, did I cause it, right? Was it something I ate or drank during pregnancy? Was it something that happened during conception? Was it, you know, the goofy things I did when I was a child, right?

You think about all these things as possibilities of what may have caused your child's autism or whatever their medical issue may be. But sometimes if we find a genetic cause, we can say, no, it's not anything you did. It's already, it's in the genes, right? They were born with it. Now, of course, I will say that even if we didn't find the genetic cause, I would still tell families it's not something you did. But sometimes that kind of concrete answer can be more reassuring.

I will say that if you look at the medical literature about kind of perceptions of families of children with autism, about genetic testing, some of them worry, well, if I find out that it came from me or if it came from dad, then we'll blame each other, right? And I get that. And I can't take that away. I will say that sometimes we find a genetic cause for autism, in fact, often that is not inherited from either parent.

All of us have genetic variants that make us unique and different from our parents. And so if that is a concern that families have, sometimes we can reassure them that it's possible that we won't even identify anything that has to do with either of you guys, but it just happened randomly in the child.

And then, of course, the last kind of benefit can be if you find a genetic cause that's specific, then sometimes you can connect with other families who have children with similar genetic causes or the same genetic cause for their child's autism, which can help build community. And so, like I said, some of these last kind of reasons are a little bit more squishy, but I still think they have real benefit.

And I think it's something that I'm hoping to quantify with some research I want to do in the future. And I would imagine that these are things that you discuss with the family, you know, during the genetic testing process is kind of, here's what we could learn. Here's what it could mean for, you know, not just me as the medical professional, but for you as the parents. Right. That's what I try to tell the families that, you know,

it's at the end of the day, it's up to them, right? They get to choose and that's their right. But I tell families that even though it might not help your child directly right this minute, it may help you in ways that you can't predict. And so, and I tell them some of the ways that we know that it could help. And one day their child may want to know themselves, right? Their child may want to know if they have a chance of having another child, having themselves a child with autism.

The parents may want to know if we carry something that may impact our child of chance of having a future child with autism. And so those things can be useful. Well, and today, too, you know, as you said, we're learning more about kind of parts of the genome areas to test, but we're also learning more about function and treatment and things like that. So there's stuff today that may be available 10 years from now that we don't have today.

That's exactly right. Yeah, that's another thing that I don't often kind of cover in my counseling sessions, but I think it's really important for families to know that in any kind of any reason that you see a geneticist for, if we find a genetic cause now and we say there's nothing to do about it now, that might change in the future. For sure. One question that I find I get asked often is, okay, if autism is caused by. X factor, whether that's something in the environment, whether it's genetic?

Why is it more common now? Why are we seeing what people consider to be a rise in numbers of folks who have autism? That's a really great question. And I think it's a very legitimate concern that some people have based on just looking at the numbers, right? And it is true. I don't remember the numbers off the top of my head, but if you look at kind of the prevalence of autism over time, it has increased.

So I remember even in the last probably 8 to 10 years, it's gone from 1 in 59 to I think 1 in 36 is the most recent statistic. And I think some other sources will say other statistics, but it's fairly common, right? So I think in the United States, the number is about 1 in 36 individuals will have autism, more commonly affecting boys than girls. Although that's a little complicated. We can maybe get into that later. What I'll say is it does seem like autism is increasing in prevalence.

Now, the other thing I'll say is we don't think it's anything environmental. We don't think it's anything that people are doing. We don't think it's vaccines, which is unfortunately a very hot topic right now, and it just will never die. But we don't think it's anything that the children are consuming, are being given, anything like that. It's probably mostly because the definition of who is diagnosed with autism has changed over time.

And in fact, I don't remember when it was, maybe in the mid-century, maybe even the 70s or 80s, they used to call autism like childhood schizophrenia. They would have all kinds of funny terms for these things. And as we get better about understanding autism and what it actually looks like in people, we are changing the way we diagnose it. And autism, you know, we kind of touched on this earlier, but you can't diagnose autism with a genetic test. You can't diagnose it with any blood test.

You diagnose it based on kind of behavioral observation and testing that's done by a trained professional. Often that's a psychologist or a developmental pediatrician. And there are screening tests that your child may receive in their pediatrician's office that could kind of show their likelihood of having autism, but not necessarily diagnose them with it. You have to have a formal process to diagnose them.

But those processes have changed over time. And we've kind of changed our diagnoses and changed our kind of definitions to be more inclusive of people who are neurodivergent in different ways. Also, we used to call, autism used to be kind of differentiated into multiple different terms, like autistic disorder, Asperger's syndrome, pervasive developmental disorder, sensory integration disorder.

So there were all these kind of sub-sub terms that used to be used for autism, but it's almost like they went through a funnel and they all got funneled into the term autism spectrum disorder. And so somebody who was diagnosed with Asperger's 20, 30 years ago wouldn't have been counted in that 136 number, but now they are because Asperger's is part of autism. So that's one of the reasons that the numbers are increasing.

And the other reasons that I've kind of been thinking about, And to be fair, I need to look at the medical literature to see if this is actually proven or even a theory out there. But I think that part of it is that people tend to marry people who are like them. And people who are, for instance, many people who are high achieving are neurodivergent in some way. So they might have ADHD.

They might have some obsessive compulsive personality traits, not true diagnosis of obsessive compulsive disorder, but some of those traits. They may have autism or autistic traits. And so, you know how I mentioned that it's many people, their autism is not one genetic cause, but multiple little things coming together. So, if you imagine that you have two people who meet and marry and fall in love, one has ADHD, one has some autistic traits.

They don't meet independent full criteria for autism themselves. And plus, they're probably in their 30s and weren't even evaluated because it wasn't common back then. autism and their children, but they might not meet for autism themselves, but they have just enough little changes in their pizza dough recipe, in their spaghetti recipe, in their sauce recipe, right?

So all those things kind of coming together, and then they come together and have a child, and their child inherits multiple changes along the same pathway that might be subtle and might not be detectable on current genetic testing technology, but that's enough for their child to have a true diagnosis of autism. And so I think what's happening is that people who have neurodivergent traits are also marrying each other and having children more often.

And that also may be increasing the incidence of people with autism because we're just getting together with people who are like us. And for people who are neurodivergent, that might mean other people who are neurodivergent. And I think what I have found interesting over the last few years is that more folks who are adults are realizing some of them have neurodivergent traits. Some of them have, like you were saying, being diagnosed with like ADD.

I know that some of the families that I worked with, the kid was, you know, the kiddo was diagnosed with autism. And as we're chatting with the mom and dad, one of the parents is like. I've always had some of these traits or tendencies or something, and I never really thought much about it.

So I think that helps explain it, too, is that it's, one, probably picking up on some things that we didn't before, but then also, like you said, all these sort of buckets, these subsets are now kind of combined together into that one spectrum diagnosis explanation. And I was going to say, you actually said it in a way that I forgot to make clear. The other thing is that we're now screening more people for autism.

You and I are probably both in our 30s, maybe 40s. When we were growing up as children, I don't think anybody was doing the MCHAT, which is one of those questionnaires I was mentioning. When we were two or three years old and asking our parents, does your child make eye contact? Does your child do this or that? Those questionnaires that now families of children with toddlers or small children are very familiar with, we weren't getting screened for autism.

And so there may be, you and I may have some autistic tracer may have autism. There may be other people that we interact with in our daily lives who probably have autism and just never knew it and never were diagnosed. And then, like you said, people, many people now are getting diagnosed because their children get diagnosed. And they're like, well, that's funny. Like, I didn't even think of that as unusual, but I did always have a hard time in social situations.

But people just told me to, like, suck it up, you know? Right. And they realized that they have autism, their child has autism, and they just were underdiagnosed. And so that 1 in 36 number that looks like it's so high, and I guess we're calling children Generation Alpha now, could be the same in millennials. I don't even know anymore. Could be the same in Gen Xers, right? Right. But we just, those people just never had the chance to get tested. Right.

So again, it comes back to there are things that are always more going on behind the scenes, right, than at first glance. And so, again, it's not a simple kind of explanation. There's a few different things that feed into why we feel like we're seeing more cases or more folks these days. It's the combination of medicine and public health changing, right? Right. Right. And you had mentioned one thing I did want to go back to. You talked about boys and girls. Yeah.

To use terminology, with autism. So I wondered if you could tell us a bit more about that, because I know that's one thing that I heard. 25 years ago when I was doing my training. Yeah, if you look in the kind of medical literature classically, many things will say that boys are diagnosed with autism at a four to five times rate higher than girls. And that could be true. It could be that there is a sex prevalence of autism among biological males.

And there may be some true biological and genetic reasons for that. I think there's a lot of, we don't have to get into this now, But there is some thought processes about kind of a lot of genes are contained on the X chromosome and there are many X-linked intellectual developmental disorders. And males have one X chromosome. Females have one X and one, two X, excuse me.

And so often genetic syndromes that are related to the X chromosome affect boys more, more severely or affect boys where they might not affect girls at all. And so that could be part of the biological reason that there seems to be a higher prevalence of males with autism or other neurodevelopmental differences than girls. But another reason is probably that public health aspect as well, to some degree, or kind of just the societal perception.

And so it turns out that a lot of the symptoms that we think of as autistic symptoms that make us worry or think, not worry, that's not the right word, but think a child may have autism, a lot of those symptoms are the ones that have been observed in boys. But it turns out that females may present differently. And the same goes, for instance, for ADHD. We always think of, most people think of ADHD as the kid who's running around hyper all over the place, bouncing off the walls.

That's often how ADHD presents in biological males. But in biological females, it more often presents as inattentive, where they're kind of daydreaming, right? But it turns out they still have a difference in their neurological functioning that causes them to have challenges with learning because they're not paying attention. Right. That's that AD part, the attention deficit part.

And so as we learn more, and I'm certainly not an expert in autism diagnostics, but I think as we learn more about how autism presents in biological males versus biological females, we may see that number go up higher or we may see that ratio start to close, that there are more females being diagnosed with autism because we're now more attuned and aware to the way autism presents in females versus males. Okay, that's very helpful.

One of the things, too, that I know comes up a lot in clinic and working with patients and families is after the testing, after receiving some type of diagnosis, they're looking for support. They're looking to connect either with other families that may be going through something similar or just get more information. So can you tell me more about the support resources that exist for families that are navigating autism? them?

Yeah, I'm not certainly an expert on this, but I think one thing that can always often be helpful, you know, I work at a particular hospital system, and at our hospital system, the children who get diagnosed through developmental pediatrics have a really good resource through their clinic. Now, they're really, really busy, and their volume is high, so often they don't see the patients back for follow-ups, but they have a really robust kind of

support system through their online literature. They have a newsletter. They have webinars, all kinds of kind of developmental support resources for parents of children with autism or other neurodivergence or learning disabilities and so on. And so I think that I would encourage families to kind of look to their local developmental pediatrics clinics and see what resources are available just locally.

I know that the group Autism Speaks is often a source of resource of support for families, although I haven't looked at this myself, but I've given the impression that Autism Speaks is often a often frames a diagnosis of autism as something kind of catastrophic for a family. And maybe that's not true anymore, but I've heard that that was at least at once, at one time, their kind of framing of it.

And so that might not be something that's welcome to autistic individuals or parents themselves who are autistic. And so I'm not familiar with the other resources out there, but those are the ones I've heard about. And I've got some other ones I think that I've heard about through some other folks. So we can also put some of those in the show notes. I think one of the ones I'd heard a lot about is SPARC, S-P-A-R-K. Yes, I was just going to mention that too.

Yeah. So SPARC is called Simons Powering Autism Research for Knowledge. And they are part of the Simons Foundation, which is a private group that funds research into all things autism. And so SPARC itself is their arm that's interested in just enrolling families who have a child with autism, one or more children with autism, and actually doing genetic testing on them.

And so it's very similar to the genetic testing that we recommend clinically, but they do it on a research basis, which what that means is they're kind of looking at it in a different way. So they're kind of looking at it more slowly, magnifying.

You can think of it in kind of different ways of explaining it, but they're looking at it in a way that the clinical testing might miss certain things because we're only looking, the clinical testing looks for things that we already know about medically and in the literature. Whereas the research testing is saying, what can we discover? What are new genetic a cause of autism that haven't been identified before.

And so that's what Spark is interested in doing. And so if you hear about Spark from your genetics provider or even your developmental pediatrician, it's something that's at least worth considering. My understanding is that most of the time, all they do is get a cheek swab from the affected patient, so the child or children with autism and the biological parents that they're available. And that's kind of it. I think they offer like a small kind of amount of money,

like $50 or something. But Spark also does have a good website with lots of resources. And for families of children who are diagnosed with certain causes of autism, SPARC has, I think it's called the Simon Simplex Complex, or there's something. The Simon's Foundation has certain webpages with information about certain genetic causes of autism, as well as support groups as well.

And so you can always just kind of Google your child's genetic cause of autism and the word SPARC or Simon's, and you might find stuff on the internet. And so that's another good resource. Okay. Yeah. And like I said, We'll put some more of those in the show notes.

I am going to shift gears a little bit to kind of go back to something that we briefly touched on about vaccines. So I think I pretty much know what you're going to say, but do vaccines cause autism? Absolutely not. Okay. I figured. So I think it continues to come up. I think you and I both working in the health care field have had times where it kind of goes away and then it kind of surges back again to the front of the conversation. Thank you.

Why do people continue to associate vaccines with autism, do you think? Well, the history is that in 1998, a study came out in a British medical journal called The Lancet, which is a fairly kind of well-descrusted journal. And it was written by a doctor called Andrew Wakefield, who was from England. I think he was practicing in England at the time. Basically, the study, suffice it to say, it was really, really poorly done.

It was kind of everything that you're not supposed to do when it comes to research, it kind of did. And it actually falsified some of its data. But at the end of the day, the study, what it said was that children who had gotten a certain vaccine, the MMR vaccine for measles, mumps, and rubella, had a higher likelihood of developing autism than children who had not. And that was the take-home message. And that just seeped out into the Internet. And it is everywhere.

And it has been for going on 30 years, unfortunately. For people's kind of knowledge, the study was later found, like I said, to have all these methodological problems and really research misconduct. Andrew Wakefield was disbarred is kind of what you would say for a lawyer, but he lost his medical license and he no longer can practice medicine.

I know in the UK, I think, unfortunately, he has now since moved to Texas and has like some kind of institute in Austin, which is really depressing as a person who lives in Texas. But what can you say? At least I don't live in Austin, I guess. Although Austin's a great city. I'm sorry that Andrew Wakefield is there. But I think that he continues to spread his misinformation. And unfortunately, he's not the only one.

There are many celebrities, many people who have no business talking about vaccines or autism or health or medicine at all because they have no authority, who are out there in people's ears telling them all these things. And unfortunately, honestly, I think it's a problem that we're having across society in general, right? Problem of disinformation and misinformation. How do you combat it?

I hope a researcher will figure it out and will be able to use the right techniques because everything we're doing doesn't seem to be helping. And I think the thing with vaccines now is that I think a lot of the people who are kind of anti-vaxxers like in that community are. I think a lot of them have given up on the vaccines cause autism kind of thing, but they're now on a different train. So vaccines cause other stuff, vaccine injury, vaccine this, vaccine that.

And so this is the way conspiracy theories work. They're constantly moving the goalposts and constantly kind of accusing the side truth of hiding things, obfuscating. And this is all very out in the open. There's nothing hidden about the way vaccines are approved, the way they work, all of this. And they also often use the lack of evidence as evidence, like just because there's no evidence that it causes autism, then they're hiding something, right?

And so it's just the same stuff that happens in all conspiracy theories, but it just continues in this one. And the sad part, I mean, all conspiracy theories, I think, can be harmful, but this one is particularly harmful because of the effect on public health and the stigmatization of people with autism.

Like, is it so bad if your child gets autism? But that's maybe a topic for a different time. But yeah, well, and I think it's hard, right? Because like, as as academics go, right? The physician was stripped of the medical license, not allowed to practice. The article was retracted, right? The Lancet put out stuff. And so it's like academically, all the things have been done. But once it's out there, it's out there.

Right. And it's kind of hard to pull it back. The other thing that's frustrating for me is somebody who's submitted things to journals, right, for review, is that it should be extremely stringent. And it usually is an insanely tightly controlled process that you have to go through in order to get anything published in these peer-reviewed journals. It really blew my mind how it got published. I'm sure there's stories out there about how that happened too, but it's.

And I think that's what's hard, too, is that folks, you know, who are trained in science, trained in medicine, have to say, yeah, that that did not go the way that it should have. And and, you know, so that's something we have to learn from is to make sure that we're still having those that stringent criteria and that peer review before something gets published in an academic journal.

And I think the other thing that that when it comes to conspiracies or like wellness claims or whatever about health, that's really in the ether now that a lot of times when you talk to scientists or physicians or medical professionals in general, our job is to part of the kind of training of medicine and science is to say that anything could be possible theoretically. Right. We we often have a saying in genetics that we never say never. Right.

And so if somebody asked me like, well, could this, the raspberry ketones help me lose weight? I'm like, I mean, maybe, but like, I don't think that's why you're losing weight. Right. So the same thing happens that we, we respond in a way that you wouldn't, a scientific circle to these questions and these claims, but maybe we should be responding more like you would in a commercial, you know, that no, definitely not.

Definitely not. Like I just, I guarantee you. Right. So that's what I tell people now. And I will say, I think it's been proven without a shadow of a doubt, but vaccines definitely do not cause autism. And it's definitely also not the inorganic food you're eating or whatever else it might be. It just happens. And it usually is genetic.

Well, and I think that that's one of the things I want to explore because it's wrong scientifically, right, to say vaccines cause autism or this, you know, like you said, inorganic food or whatever. But I also want to dive into, it goes just beyond misinformation, but it borders to me on being like dangerous and dismissive almost to state for, you know, RFQ Jr. To sit there and say, we will have a solution for autism by September of this year. Yeah.

One, it's impossible, but two, again, dangerous and dismissive to individuals and families who are neurodivergent. Yeah, I mean, it's problematic on so, so, so many levels. I think that announcement, I think he said that they would find the cause of autism and a solution for it, right? And it just really angered me, if I'm being honest. I mean, never mind all the scientists who've spent decades, their lives dedicated to studying autism.

That alone, right? All of a sudden, you know, you're quack scientists who aren't really scientists are going to suddenly discover the cause and the solution for something that people have been studying for decades. It doesn't make any sense. It's very dismissive of science, which is kind of the whole point of this whole administration right now.

So mistrust and that's been going on. Unfortunately, those seas have been there for many, many years through all the conspiracies that are out there in our in our world. And yeah, it's really harmful to people who are neurodivergent. You know, there are people who are neurodivergent who deserve love and respect and to be in the world just as much as people who are neurotypical. And to say that, you know, they need a solution, you know, that's.

I mean, it borders on eugenics, which is actually, I will say, I'm a geneticist who's very interested in genetic causes of autism, but also the lives of people with autism.

And one thing that I've become aware of in the course of actually peer review for a paper that I wrote about parents, the kind of perception and expectations about genetic testing for kids with autism, I was made aware by one of the reviewers of the view of people with autism, autistic people, and they often refer to call themselves autistic people, who say that we don't want any genetic testing for autism.

And they're against Spark, for instance, you know, because their perception, and it's a valid one to their point, their perception is that if we are working on discovering the causes of autism, then that means that we're working on discovering how to get rid of autism in the world. And so I also have respect for families of children who say, you know what, I've heard everything you want to say, and I don't want to do testing.

I have respect for people who are autistic and say, who think that what I'm doing may be harmful because it may be ultimately used to, you know, eliminate people with autism from the population. It's not something that I want to do, certainly. I just want to understand better. But I respect people who want to say that.

And so I, what I, it's all that to say that, like, what I'm doing is kind of made many orders of magnitude different from, of course, what RFK Jr. Is suggesting, which is that we have to just get rid of people with autism. And I think it's just, it's cruel. It's dismissive. It's wrong. It's impossible.

Well, and I think to me, too, I go back to if we switched it out for another condition, like say Down syndrome, right? So I used to practice prenatally. And that was one of the things is people would say, well, why would I test for Down syndrome? I don't care if my child has Down syndrome. I'm going to love my child. And I'm like, that's fine. Then you don't have to, like, you don't need to test.

It's not something, again, it's always up to the parents. But I think folks in that community have had similar conversations to the folks in, that identifies you know as autistic people and it's sort of like you know if we're testing for it is this something we're trying to get rid of and i'm saying that in air quotes but again i i just was like nobody would say that i don't think about a lot of these other conditions, so and again i i also get confused whether you're talking about right to life

and supporting that that everyone has a right to life but then trying to eradicate people who are different conditions So like you said, it really is veiled, maybe not so veiled, eugenics. Yeah, absolutely. And I think, I mean, it also gets back to one of the core principles that I want people to know about genetics of autism. You know, just because you have, like a person can have a genetic variant that has been associated with autism and never develop autism.

That happens all the time. And so even if we discover the single cause or multiple causes of autism, I'm still not going to be able to know no professional medical professional with worth their salt who is not a quack is going to tell you that I can predict if your child is going to have autism in utero. Right. And so what are they suggesting? Are they suggesting testing, you know, fetuses for the genetic causes of autism? And if they do suggesting abortions, is that like possible? It's not.

It's not possible because just because you have a genetic cause that can cause autism doesn't mean that you will. And so it just, I always tell people that genetic testing for autism is not predictive. And even like if I diagnose a child who has autism with a genetic cause for their autism and they have a younger sibling, parents may ask, can we test their younger sibling? And I'll say, no, not unless they have autism. If they have autism, I'm happy to test them. But if they're unaffected,

it's not appropriate, right? Right. Because we wouldn't know what this result means. And we couldn't tell you if they're going to develop it or not. Right. Right. So I guess with all the misinformation, disinformation, and kind of the sowing of mistrust, how would you vet a source or how would you know who to trust when you're looking for information about autism? I think that's very difficult in this day and age. You know,

I think often I used to tell people look for .org, look for .gov and the end of websites. But I think there's a lot of disinformation from many nonprofits and from the government now. And so that's not a good yard, a yardstick.

Like one thing that I often tell families, and I think this is kind of a little bit separate from what we talk about, but another problem that occurs a lot of times in the autism community is families are told that if you give them the supplement or if you do the stem cells or if you do stem cells don't work for autism, by the way, if people are wondering, it's not it's not a thing.

Please try to avoid it. But if you're I always tell families, if someone's telling you that they'll be able to give your child the solution for whatever it is, but only they can sell it to you and it costs a lot of money, you should be skeptical. So that's what we always tell families, that these families are vulnerable. Yeah. Because they have children who are maybe struggling in different ways, and they want their children to be as happy and healthy as possible.

And for some of them, that means wanting their children to be neurotypical. We can debate the right and wrong of that. But that's how some families feel, right? And if someone's telling them that they can make their child neurotypical by giving them this expensive medicine, that's when you should start to have distrust. I think you should always look at what are the motives behind what someone's doing.

And so if a parent is at the pediatrician, the pediatrician is saying, you know, your child is due for vaccines. The pediatrician doesn't make any money off of that. You know, they bill for the work they're doing because we live in a system where we have to bill for our work. And that's a totally different conversation for a different time. Yes, but they're not making money off of that.

Whereas if you're on the internet and someone is saying I have this, you know clinic where we do stem cells for children with autism, and they get all better, the stem cells cost $5,000 a pop and you have to do once a month for a year. You know, your antenna should go up. Well, and I think, too, it's like, you know, are these people required by law to give disclosures, right, to talk about conflict of interest?

Because I think that's one of the things that still I should I should probably not be surprised anymore. But I'm just like having worked in the field, if I don't disclose certain things, I mean, that's it. Your career is over. And so I think that's what's that's another thing is I kind of you have to do some more digging, unfortunately. but it's trying to figure out, like, what's the conflict of interest? Do they have something they're not telling you? Like, do they have investments

in these supplements? Are they going to be making money from it? Yeah. Right. Exactly. Is there anything that you would say to families or anything that you have maybe said yourself when talking to someone who believes a lot of this misinformation about autism? It can be very difficult. And I will say, I think the families I encounter in the clinic are usually families who are not quite in that misinformation stage because they've come to the genetics clinic, right?

So they already have some belief that genetics is part of the cause of autism. But what I think often works is that is validating their desire for their child to be happy and healthy. I think because a lot of times I think for these families, when a medical professional says, that's nonsense, I can't believe you believe that, that makes them feel dismissed.

And so I think it's important to acknowledge that like I know that you want to do all this because you really care about your child but what I can tell you with my medical knowledge and what I've learned and my years of experience is that. This is not the cause, or this won't help, or, you know, you didn't cause it. So I try to kind of talk to them on a human level in that way.

And I remind them that, like, it's always useful to think about, like, if someone's selling you a certain test, how, you know, are they the only one who could sell you that test? Like, why is no one else doing that test? And, you know, are they making money off of this in a way? And I think, you know, one thing that, again, happens often in conspiracy world is that people will say, you know, they don't want you to know about this.

Then why are you the only like but but why do you say that you know what what what do what do we gain by not telling you we as the medical community gain by not telling you certain things and so I think be skeptical and always think about other interests someone else may have and also you know I have empathy for you wanting your child to be better but I really don't think this will help and you know for instance some families will travel

for like stem cell infusions and stuff but those things can be contaminated they can be dangerous and so I tell families like you know be careful that you may cause harm too you know and another thing i tell families.

Is that not necessarily about misinformation but some families say you know i know that whenever i give my child red dye they just you know their behavior really changes or we follow a gluten-free diet and that really helps with this or that symptom of their autism now tell families if this is something that's helping you and you find that it's not super restrictive and it's not making you crazy to follow this diet or whatever it might be by all means be

my guest but if you're finding one that it doesn't help or two that it's making you completely nuts to do it you have my permission to quit you don't have to keep doing something just because it's joe schmode on the street said it really helped their child with autism you decide what's right for you and if it's too restrictive then that's bad for your mental health and a parent with mental health challenges is going to be difficult i'm going to make life more difficult for any child including

a child with autism yeah and i think it comes back into you're talking about like we started off talking about siblings and children being able to express themselves, but there's this emotional component to a diagnosis, an emotional component to these types of things. So I think, you know, saying, having empathy.

Talking to them about, you know, agreeing we want what's best for your child because it's not just, I think sometimes providers can get into this, here's medical information and just spewing the medical knowledge. But there's also this very emotional side to practicing medicine and communicating science. Yeah.

And if you meet someone on a human level, they're more likely to hear what you're saying, whatever it is, right? Whether it's the science or the medicine. And so, and even when there's encounters that you think are going to be difficult, meeting someone on a human level makes those encounters more easier. More easier. Makes them easier. Yeah. Yeah. Yeah. At the end of the day, we're all humans. We're all hoping for the best for our loved ones.

Exactly. Exactly. I think you said it perfectly. I know we covered a few different things during the conversation, but if our listeners walk away remembering one thing from our talk, what is it that you hope they remember from this conversation? I might have a top three to five. That's okay. I've had a few folks that have said that. They're like, I can't pick just one, so that's fine. So one thing I would say, the first thing I would say is that autism is genetic for many people.

In fact, we think that autism is genetic for all people, although we don't always find the genetic cause for people with autism. The other thing I would say is that autism genetic testing is not predictive or diagnostic. And so don't trust someone who will tell you if they can tell you if your child is going to have autism in the future. That's not true. Maybe true in the future, but it certainly isn't right now. And three, I would say that you didn't cause your child's autism.

Whatever you think, whatever's on your mind, whatever's on your list of things that may have caused it, it wasn't something you did. It wasn't something your partner did. It just happened. Well, I just appreciate you so much for taking the time to talk with us and to answer these questions. Yeah, of course. It was such a pleasure. Yeah, I just love talking about these topics, and I hope this reaches people in a way that's meaningful.

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