Getting an autoimmune disease diagnosis can feel like solving a medical mystery. In this powerful interview, we explore why so many people struggle for years before finally receiving answers. From vague symptoms and misdiagnoses to medical gaslighting and gaps in conventional testing, we break down the challenges of getting properly diagnosed—and what you can do to advocate for yourself along the way. If you’ve ever felt dismissed or overlooked by the healthcare system, this episode is for you. I talk with a medical expert on the science of autoimmune disease diagnosis about why doctors can have such a hard time with autoimmune disease diagnoses.
Tyler O’Malley serves as Associate VP of Clinical Affairs & Market Access at Exagen Inc., a leader in autoimmune testing solutions. In his role, he oversees clinical trials, bioinformatics, and medical policy development for Exagen’s current diagnostic portfolio and pipeline of proprietary solutions.
With more than a decade of experience, O’Malley has contributed to more than a dozen clinical trials, focusing on clinical validity and utility evidence for autoimmune diagnostics. His expertise is widely recognized, with numerous publications in esteemed peer-reviewed journals. Notably, he is the first author of one of the largest clinical utility studies in lupus diagnostics.
O’Malley graduated from Georgia Gwinnett College with a Bachelor of Science in biology, concentrating in biochemistry. His eleven-year career in Research and Development and Medical Affairs encompassed medical science education, assay development, and clinical research coordination.
Transcript
AnnaLaura Brown: Hello everybody and welcome to today’s episode of Autoimmune Rehab. Today I am happy to be here with Ali. Tyler and I are going to be having a conversation around something that…
AnnaLaura Brown: if you’ve been dealing with any kind of an autoimmune issue for a while, maybe you’ve gotten a diagnosis or I know some of you maybe don’t even have your diagnosis yet. You’re well aware that getting diagnosed with an autoimmune condition can be a whole thing. before you even start working on your treatment or how you’re going to get better, you need to know what it is you’re dealing with. And sometimes that could be really hard to accomplish. And Tyler works with a company that is doing clinical trials and…
Tyler O’Malley: Not holding.
AnnaLaura Brown: technologies, few other things to try to help improve how people get their diagnosis with autoimmune conditions. So, welcome to Autoimmune Rehab. Tyler, why don’t you start by telling us a little bit about yourself, who are you, and what brings you here?
Tyler O’Malley: Great. Thanks so much for having me.
Tyler O’Malley: So my background is in biochemistry and the immune system is something I’ve always been fascinated with. going back to schooling and so forth and the company I work at now Exoggen is an organization that’s dedicated to finding solutions that help facilitate earlier diagnosis and more prompt treatment for patients who suffer from autoimmune diseases. And in my role at the organization I’ve done a lot of different activities in my time here at the organization over the past 11 years or so. but more recently I’ve taken on the oversight of our clinical affairs department.
Tyler O’Malley: So that involves our efforts to execute our clinical trials that help demonstrate the clinical validity the accuracy of our diagnostic tests and the utility of the tests. that is when the tests are provided to clinicians in the appropriate clinical setting. You know how those tests affect outcomes for patients and help those patients get to answers faster than they otherwise would with the currently available technologies.
AnnaLaura Brown: Yeah, sounds good. So, let’s ask this question next then. So, as I’ve mentioned before, a lot of our people when they start,…
AnnaLaura Brown: coming down with autumn symptoms or things like that, a lot of times they go to a doctor, they run different tests, they tell everything’s normal, it’s all good, but they still feel like crap and they really struggle to really get that diagnosis. What would you say is one of the main reasons why autoimmune conditions are so hard to diagnose in the first place?
Tyler O’Malley: One of the challenges with autoimmune testing is that oftentimes…
Tyler O’Malley: what we’re looking at whether you’re talking about an autoimmune condition like lupus or rheumatoid arthritis or primary shogrin syndrome just to name a few there’s many of them as your audience is probably aware of but generally speaking oftentimes what we’re measuring are antibodies that have your body has developed that are rather than serving their normal function of targeting pathogens like bacteria and viruses that all of our immune systems are designed to fight off.
Tyler O’Malley: in the case of individuals who are suffering from autoimmune disease, these antibodies are targeting something within yourself normal tissue that then leads to damage to your normal tissue and that’s what leads these symptoms the fatigue and the inflammation and so forth that we associate with autoimmune disease. What presents a challenge oftent times with developing tests that are very useful in these conditions is the fact that the antibodies that individuals form when they develop these diseases are not all the same.
Tyler O’Malley: That is to say, you can have two different patients who both have rheumatoid arthritis but they may be forming slightly different auto antibodies that are leading to their arthritis symptoms and the disease that they have. and so you’re trying to develop a test that is broad enough to capture these antibodies in a wide swath of people who have rheumatoid arthritis. but you also want the test to be specific enough that you’re more often than not only detecting people who actually have the disease rather than individuals who are healthy or may even have a different autoimmune disease.
00:05:00
Tyler O’Malley: So it’s a balance between these two concepts that we have in diagnostics that we call sensitivity which is when you have a test how often are you detecting the disease that you’re trying to detect in this example RA versus specificity which is how often are you correctly classifying someone who does not have the disease as negative with the test. And so you’re trying to balance these two things out. And in some cases, what can happen is someone who has, the early symptoms of a condition like RA forth, they may test negative for the standard diagnostic test for RA. but that doesn’t necessarily mean that they don’t have the disease.
Tyler O’Malley: and that’s where the clinician needs to apply their clinical judgment and go beyond the testing to help make that diagnosis. And so what we’re trying to do is close that gap between the performance of the biomarkers that we currently have and where we want to be in the future,…
Tyler O’Malley: which is tests that are, both very sensitive for these diseases but also very specific at the same time. Right. Right.
AnnaLaura Brown: Yeah, that’s a good point too…
AnnaLaura Brown: and the other issue of course with the world of autoimmunity is that it There’s many different variations of those conditions. And I’ve talked to people and guests that have been misdiagnosed as well. they’ve been told, you have one autoimmune condition when in fact they actually have something else entirely.” or, maybe they’ve been told they have one autoimmune condition and they’ve actually got two different autoimmune conditions, but they’ve only been diagnosed with one of them. So, …
AnnaLaura Brown: it’s complicated as I’m sure you’re aware and so is anybody that’s pretty much listening to this.
Tyler O’Malley: Yes, the immune system it’s a very delicate dance that is taking place in all of us every day. And when some of those elements of our immune system fall just slightly out of place, it doesn’t take very much for the immune system to start to fall into a cycle of perpetual autoimmunity and…
Tyler O’Malley: and ultimately to the symptoms that we associate with autoimmune disease. and so yeah, to your point, it doesn’t take very much
AnnaLaura Brown: Yeah, for sure.
AnnaLaura Brown: Okay, so let’s move on then and talk about I know that lupus is one of the autoimmune conditions that you’ve worked quite a bit with. So, what kind of innovations would you feel like Exoggen is doing and…
AnnaLaura Brown: maybe even other innovations that might be out there that you’re aware of to help improve early diagnostic in something like lupus and patient outcomes because anybody that’s been through that knows that lupus can really be I don’t want to necessarily say it’s the worst, but it can be one of those things that especially if you don’t get a diagnosis early on, it can really really cause severe issues later on, too.
Tyler O’Malley: Absolutely. …
Tyler O’Malley: what we’ve done in the way of innovation is we’ve developed several unique biomarkers that only Exoggy provides to rheumatologists that are more sensitive for lupus than current conventional biomarkers that are available. and so it goes to that idea of when you have biomarkers that are more sensitive you’re able to help in those cases where patients may find themselves at the rheatologist they may be at the very precipice of their disease and so they may not have all of the cardinal distinctive features of lupus that would be very apparent and obvious to a well-trained rheatologist.
Tyler O’Malley: but rather they have non-specific symptoms for example in the case of lupus an unexplained fever for a long period of time two or 3 weeks not necessarily something that most of us would probably associate with autoimmune disease right away but if you’re perpetually running a slight fever for an extended period of time and you don’t have the flu or a cold or something that would explain that fever, that’s a sign that your body has chronic inflammation that’s elevating your overall body temperature. And so that’s where we’ve tried to provide some clarity with our proprietary diagnostic tests.
Tyler O’Malley: And as an example this year in January we were able to begin to offer new biomarkers that look at cellbound proteins on C cells. So C cells are one of the major white blood cells that are involved in adaptive immunity. the part of our immune system that remembers past pathogens and bacteria and viruses that you’ve encountered before. And in lupus patients, there’s a part of the immune system known as the compliment system that when it’s activated, it leads to the degradation and formation of proteins that get left on the cell surface and they will build up on the cell surface in a way that we can measure by flowcytometry.
00:10:00
Tyler O’Malley: And ultimately these biomarkers have proven to be a much more sensitive way of detecting lupus than the typical approach that’s been employed by rheumatologists for many decades to look at compliment dysregulation where you just look at falling levels of the compliment protein in the Instead, we’re actually looking at the buildup of the activation products on the cell surface.
Tyler O’Malley: And we’ve been able to demonstrate in a study that was published just in January that these biomarkers significantly outperform the conventional tests and have the potential to help patients get to an answer sooner and critically to your point get them on to the right treatment faster than they otherwise would because as you correctly noted in the case of lupus there is this phenomenon that once you begin to accumulate organ damage from the disease your risk of future organ damage increases substantially.
Tyler O’Malley: So there is this sort of window of opportunity very early in the disease to get control and to get on the right treatment and get on the right plan that will help in the long term prevent you from incurring some of the more devastating impacts of the disease.
AnnaLaura Brown: Yeah,…
AnnaLaura Brown: for Absolutely. And I’m thinking of, I mean I know people that have lived with lupus successfully, people that have even been able to put their lupus into remission, had a few that I’ve talked to on this podcast, but I also had a neighbor years ago. I mean, it’s been quite a while that she’s been gone now, but she ultimately died from lupus. It was that severe.
AnnaLaura Brown: And so, it can be really a big deal if you don’t get it under control.
AnnaLaura Brown: So, how would you feel like Exoggen and maybe even other companies too are working to try to help in areas, where maybe some people with their autoimmune disease, they try a lot of things, whether they’re taking different kinds of drugs or maybe take also supplementing, doing alternative stuff, diet changes, all these kinds of things, but yet they’re still not quite getting what they need. How would you say that you are helping to try to bridge that gap with things that they might still need that maybe they’re not getting?
Tyler O’Malley: here. Thank you.
Tyler O’Malley: Right. So the future of autoimmune diagnostics is the key to the future for better outcomes for patients with autoimmune diseases is I think to follow the model that’s been very successful in oncology. you look at how oncology has evolved over the past several decades where we’ve developed very very sophisticated treatments to treat many different types of cancer. But we haven’t just developed very successful treatments.
Tyler O’Malley: We’ve developed very targeted, precise tests that will help align patients very specific forms of cancer with the very specific type of treatment that’s most likely to lead to a good outcome for that tient. In rheumatology, and you can apply this to other autoimmune conditions. We have developed over the past few decades very targeted treatments, biologics. if you’ve watched any amount of TV, you’ve seen these commercials for these treatments.
Tyler O’Malley: But the difference between rheumatology and oncology is that we haven’t yet developed the tests that help align patients to the treatments that are most likely to lead to the best outcomes for them. And so what’s happening right now is that we have fantastic targeted treatments that we don’t use in a targeted fashion whatsoever. we have great rheumatoid arthritis biologic drugs, but we treat RA patients as if they all are the same. And it’s very obvious and apparent if people who p patients who have RA, it affects you in different ways. Some individuals have RA that’s very aggressive. Others have rheumatoid arthritis that can be very well managed.
00:15:00
Tyler O’Malley: it affects different types of joints. and not all patients will respond to the same drugs, as others. And so that’s a key part of moving forward here and getting to better outcomes for patients is making sure that we’re personalizing medicine such that we’re treating patients as individuals and making sure that we are getting as granular as we can with the information we have to align patients with the treatment that’s most likely to lead to the best outcome.
AnnaLaura Brown: Yeah, that’s a good point too…
Tyler O’Malley: Sure.
AnnaLaura Brown: because yeah, and that’s another challenge, with autoimmune and medicine is that it’s doing things personalized is a must and that’s not something that Western medicine as a whole has been very good at traditionally. And, generally speaking, holistic medicine does a better job, but even then, sometimes they fall and fail on their face, too. So, it’s tricky.
Tyler O’Malley: E easier said than done for sure.
AnnaLaura Brown: Yeah, So, obviously, one of the things that you guys are doing is clinical trials to try to help that be more effective.
AnnaLaura Brown: How do you feel like these studies are helping to make it so that people can get an earlier diagnosis and then ultimately, better treatment?
Tyler O’Malley: With these trials,…
Tyler O’Malley: we’re trying to show that again, depending on the trial that we’re doing, in the first phase, you’re just trying to show that your assay or your test, is performing, that your test has a certain level of accuracy that’s worthwhile. but the critical part of these studies that are not often done or not often done well is demonstrating that these tests actually benefit patients. it’s one thing to have a test that is very elegant and provides an answer.
Tyler O’Malley: It’s another thing entirely for that test to be utilized and for that test to actually change the trajectory of someone’s disease. And so that’s what we call clinical utility. And these are the trials where we enroll patients and follow them prospectively. we test patients and we follow them and we collect outcomes and that’s what we spend a lot of time thinking about how to do that effectively, how to do that in a way that’s efficient for patients because it’s a balance, right?
Tyler O’Malley: in that we want to make sure that we’re developing good solid clinical evidence that support our tests, but we also can’t be doing this for 10 15 years because that means in all that time the patients don’t have access to solutions that can help them. So it’s a balance in trying to find the best way to do that.
Tyler O’Malley: And it’s something we work on, pretty much every day.
AnnaLaura Brown: Yeah, for sure.
AnnaLaura Brown: Absolutely. Yeah. how do you envision going forward, the emerging trends, technologies, how do you see different things that are coming out influencing…
AnnaLaura Brown: how autoimmune diagnostics work and how patients get their care? What do you think it’s going to be like, 20 years from now? Hell is that going to change?
Tyler O’Malley: I’ll go back to a prior comment I made. the treatments that we have now are getting increasingly precise in how they affect these diseases. And as an example of this there’s what’s known as CARTT therapy which is a form of treatment where you take tea cells from the patient who you’re treating you take the tea cells out of the patient you modify these tea cells so that they then target particular types of immune cells that are
Tyler O’Malley: imbalanced or that are helping to perpetuate the disease process in the patient. And these cells will then you reintroduce them into the patient after you modify them to target the immune cells in the patient and the tea cells will go into the patient and target these immune cells and help restore balance to the immune system. it’s an idea that’s been borrowed from oncology that was super successful and has led to huge breakthroughs there.
00:20:00
Tyler O’Malley: here in rheumatology. it’s very early days with this. it’s only been in the past few years that CARTT therapy has really taken off for lupus for example. But some of the early results are very encouraging that you may even be able to put patients into a state of remission for some period of time. It’s unclear yet, how long patients will be in remission, whether they’re, susceptible to flaring again later or what risks there might be down the road.
Tyler O’Malley: But that said it’s exciting because to this point we’ve been dealing with a lot of treatments in lupus that are effective but in some cases have a lot of downsides associated with them that make it difficult to manage the disease and to live with it day. So, I think ultimately, …
Tyler O’Malley: as we get more sophisticated with how we treat patients, there’s tremendous potential for our ability to help relieve a lot of suffering that patients are living with. Now,
AnnaLaura Brown: That’s awesome.
AnnaLaura Brown: That’s cool. It kind of reminds me of kind of similar but maybe not exactly the same to things like stem cell technology or doing different kinds of …
AnnaLaura Brown: what do you call it? not a blood transfusion, but where you do they take you your plasma injections and other different kinds of similar technology types of things. Yeah.
Tyler O’Malley: like plasma feresis.
Tyler O’Malley: Yeah. Yeah. yeah, it’s incredible what we’re capable of doing. it’s one of the things that u maybe isn’t as well understood generally, but the immune system doesn’t just fight off foreign pathogens like bacteria and…
AnnaLaura Brown: Yeah. Yeah.
Tyler O’Malley: viruses and fungi and things like this. Part of your immune system’s function is also to target and destroy abnormal cells within yourself. So, we all produce tumor cells on a daily basis, but your immune system, if it’s functioning properly, will find those tumor cells and destroy them. and so it’s sort of borrowing from that concept. if we have immune cells that can target tumor cells, why can’t we take these immune cells and just reprogram them to target the problematic cells that are helping to perpetuate the disease?
Tyler O’Malley: So, it’s very much along those lines and it’s really cool when you think about it.
AnnaLaura Brown: Yeah, that is really cool.
AnnaLaura Brown: Yeah, it’s sounds very futuristic, but it is to some degree, but yeah.
Tyler O’Malley: Yeah. Absolutely.
AnnaLaura Brown: So, anything else you want to share with people? And how would somebody get in touch if they want to learn more or do you have resources that people can read more are there studies from PubMed or, what would you recommend that people that want to learn more about it what can they do?
Tyler O’Malley: So we have a tremendous amount of literature that’s been published over the past 101 15 years. Probably about a couple dozen or so eer-reviewed studies. there’s a couple of different ways you can find this. like you said, PubMed is a good way to search for this. a lot of our studies focus on cellbound compliment activation products or CB paps techn technology. So that’s a good kind of keyword search term to look at. another way of finding a lot of this information in a kind of a collated organized fashion is looking at Exogen’s website. We have all that information tied together in a nice little publications page.
Tyler O’Malley: So, it’s easy to find. but there’s a variety of ways to engage with this content, but ultimately I’d suggest, looking at some of the keywords like CBCAPS or…
AnnaLaura Brown: Cool.
Tyler O’Malley: novel lupus biomarkers. it’ll help to kind of guide you to some of the literature that we’ve been able to publish over the past few years.
00:25:00
AnnaLaura Brown: So, anything else you want to share with people at all?
AnnaLaura Brown: You think people should know that we didn’t cover?
Tyler O’Malley: I think as someone…
Tyler O’Malley: who does not have the experience of living with an autoimmune disease,…
Tyler O’Malley: but I feel some kinship I think from working in this space and interacting with physicians…
AnnaLaura Brown: What’s happening?
Tyler O’Malley: who treat individuals who suffer from this disease. I just would encourage folks just to keep the hope up when you’re facing some of these challenges and when you’re looking for answers because there are some great folks out there that are working to find answers. And we’re getting better and better every day with tools that we have to diagnose, the tools that we have to treat. And one of the ways that we get better even faster is by patients who have these conditions participating in clinical trials.
Tyler O’Malley: So, I would say, I would encourage patients to take that opportunity up because it has the potential to benefit many people
AnnaLaura Brown: Cool.
Tyler O’Malley: if we’re able to get the right information and the right data to prove that tests and treatments that we’re developing can impact the disease. Thank you.
AnnaLaura Brown: Thanks for coming on and everybody else, we will catch you soon on another episode of Autoimmune Rehab.. Thank you.
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