Confirm Before You Treat: COPD and Alpha-1 Screening

[Corrine Young] (0:00 - 0:32)

I would say don't assume, you know, we know only a quarter of smokers end up with COPD as the dirty little secret. I have oftentimes patients, again, gray hair, smoking history, they can't breathe, they're coughing, they're wheezing, and they get diagnosed with COPD, and it happens where they don't actually have COPD. You have to have the sprometry, and if they do have COPD, they have to have an awful one test.

I mean, again, just as important to rule out as it is to rule in treatment options or different for those patients. Access to interventions are also very different for those patients, too, because of how quickly disease progresses without the one.

[Tralisa Willis] (0:39 - 2:20)

Welcome to the Long Health Champion, YKAS, brought to you by the COPD Foundation. Each episode brings practical tips, expert insights, and a powerful lived experience. Today's episode is a part of our unobstructed series that focuses on technical insights from trusted healthcare professionals.

If you have lungs, you belong here. So let's take a deep breath together and get started. I'm your host, Traleesa Willis.

In this episode, we're discussing COPD screening from identifying patients and choosing the most appropriate test to interpreting and effectively communicating those results. Whether you're screening for alpha-1 anti-tripsin deficiency, COPD, asthma, or other pulmonary conditions, understanding what the results mean and what to do next is critical for improving patient outcomes. Pulmonary function tests, or PFTs, are the key to diagnosing the cause of respiratory symptoms and monitoring patients with respiratory disease.

These various tests give us data on airway obstruction and in preactivity, lung capacity, and how well oxygen can move from the lungs to the blood vessels, where it feeds the rest of the organs in the body. Joining me today are two respected leaders in pulmonary medicine. We have Dr. Charlie Strange, professor of pulmonary critical allergy and sleep medicine, medical director of alpha-net at the Medical University of South Carolina, excuse me, and Karen Young, founder and executive director of the Association of Pulmonary Advanced Practice Providers. Thank you both for being here with us today and sharing with us your expertise.

[Corrine Young] (2:20 - 2:22)

Happy being here. Thank you. It's a pleasure.

[Tralisa Willis] (2:23 - 2:39)

Okay. So let's just jump right in. Dr. Strange, I'll start with you. I'd like to start with the patient visit. Can you walk me through your process, kind of describe what grabs your attention and what makes you suspect a patient may need screening for COPD?

[Dr. Strange] (2:39 - 3:59)

Well, since COPD is the most important disease in the world, everybody needs to be trained for COPD and it is our most common pulmonary disease. And I think in our audience, we're obviously targeting providers here today, but there are a lot of different kinds of providers out there as everybody knows. And so at the primary care level, just remember that COPD makes up about 40 percent of your dyspnea patients, but it's not 100 percent.

And so if you just start screening or treating people just because of dyspnea without establishing the diagnosis, you often get it wrong and waste our expensive medications and other resources. And so, you know, the key here coming in the front door of every pulmonary practice in America, alt-to-be, is kind of lost some of its flavor the past few years as we've developed other really cool tests, but it's probably has to be the mainstay and I think increasingly as our primary care colleagues get busier and busier, they're losing, they're not doing spirometry as often on the front side of some of those visits.

And yet they are our professional colleagues here and we have to kind of reinforce often that spirometry getting the right diagnosis kind of gets us where we need to be.

[Tralisa Willis] (4:00 - 4:19)

Thank you so much for that, Dr. Strange. Corinne, I'd like to come to you for just a moment. Is there anything that grabs your attention visibly?

So are there things in the chart that you're looking for? Are there any specific behaviors that a patient might exhibit that makes you consider screening them for COPD?

[Corrine Young] (4:19 - 5:57)

You know, a good history taking is always where it's at. You know, unfortunately, Dr. Strange pulled out a great point of, you know, because they have gray hair and they smoke, doesn't necessarily mean that they have COPD, right? The only true way to diagnose it is through spirometry.

However, if I see, you know, even if they have a lot of occupational exposures, you know, they're working, we have a lot of mining, you know, where I am, we have, you know, patients who have a lot of exposure to industrial inhalants that can cause lung disease, it doesn't always have to be smoking also. So getting that good occupational history, smoking history, of course, family history, especially when you're looking at genetic causes for COPD, if they've got a lot of emphysema in the family or multiple members of the family having COPD or emphysema, those are all great red flags or triggers to think, do I need to screen this patient or not? Not all patients with COPD are symptomatic, especially in the early years.

When I used to practice at sea level, you know, it was always sometimes a surprise to patients that they had COPD when we did their spirometry. I'm at high elevation now. Patients coming to me very breathless, very early in the disease, so I tend to see them a little bit earlier.

But again, like Dr. Strange pointed out, not all distant patients have COPD, but a large percentage of them do. So again, starting with that good history taking, you know, that's a good place to start to think, does this need for me or not? And the gold recommendations, you know, really outline some great bullet points of who should be screened for COPD based, again, on exposures and smoking histories and family history as well.

[Dr. Strange] (5:57 - 7:01)

The other piece I like to throw in there is that COPD is a disease of the aging lung. And these days when we start indexing to Z score that is age adjusted, people can end up having dyspnea, but their spirometry is not as abnormal as it used to be if we were looking at it in a more traditional FEP1FVC perspective. And as you develop airspace enlargement with emphysema, and the CDC's data where they went and knocked on doors just suggested that a large number of elderly actually have COPD but don't complain of their lungs.

So there's a large burden of undiagnosed and the patients don't even come necessarily with that symptom to your attention. So that piece of COPD is just mixed in with all the other comorbidities of life as you get older and have heart disease and other aspects of your medical history showing.

[Corrine Young] (7:01 - 7:18)

And actually that brings up a point when you said emphysema nowadays a lot of patients are getting calcium screening scores or getting other CT imaging. And sometimes we may capture some emphysema on there before they're terribly symptomatic especially if it's very mild emphysema, that's always a great red flag to start screening.

[Tralisa Willis] (7:19 - 7:49)

Wonderful. So I'm hearing we do not want to assume we want to test, make sure that we are looking into our patient's history, understanding work environments and just looking at the patient as a whole. So I want to kind of follow up with that now that you've seen the patient, you've decided that you're going to screen the patient, how do you express the need to the patient?

And if you're met with any hesitancy, how do you navigate that?

[Corrine Young] (7:49 - 8:43)

Well, usually if they're coming to see me in a pulmonary practice, they're coming because they want answers, right? I think in the primary care setting, it sometimes might be difficult to convince them to do screening. If the handheld spectrometry is available, I mean that's a great tool where they don't have to have another appointment, go to another facility to do a lung function test that's often the copay or they're deductible, another visit, especially if they're working, you know, can be difficult for them or a barrier to them getting screened.

However, when they come to me at this point, I'm saying, you know, I'm suspecting COPD or at least I want to rule it out, if that's not what it is, and spirometry is really our only true tool to do that. It also helps me with staging. Patients do like to hear about what stage they're in or how far along or comparatively where am I at to other patients, and that, again, is our only way to really say is through spirometry.

[Dr. Strange] (8:43 - 10:00)

You know, one of my favorite comparisons is the comparison to hypertension. We define hypertension as a blood pressure elevation. Would you ever treat hypertension without a blood pressure elevation?

Probably not. And how many times do you get a blood pressure when you go to see the doctor? Oh, that's every time.

So, on the COPD side, you know, you're not going to die of hypertension today. You die of the strokes and the heart attacks 10 years from now, but to actually screen or think about COPD with a spirometry, also a test that defines the condition means that you're identifying a condition even in minimally symptomatic individuals and their respiratory failure might take 10 or 15 years the same way high blood pressure elevations take 10 or 15 years to manifest the important things that people care about.

But that concept of, yes, we're looking at your lungs. We're trying to keep you healthy. We're trying to improve lung health, and that's the reason we make the call of us spirometry rather than just passing out an inhaler to see if it works is the way I think about this and particularly talking to primary care, it sometimes sells when you compare it to hypertension.

[Corrine Young] (10:01 - 10:32)

Well, it's not normal for patients in their fourth to eighth decade of life to have three or four episodes of bronchitis per year. That should not be happening, right? So there's some other underlying airway dysfunction going on or some other inflammatory response or workup that needs to be done.

And again, spirometry to keep harpy on it is just the way to go to really define is this asthma. Is this COPD? Is it an overlap?

Is it, you know, what exactly is it that's driving these patient symptoms and exacerbations?

[Tralisa Willis] (10:32 - 11:21)

Spirometry sounds like the way to go, right? We want to make sure that that's a regular part of patient care. Now, we've heard a great deal of information surrounding spirometry.

Up until this point from both Dr. Strange and you Korean. But we know also that there are multiple types of PFTs, right? They can be used to identify persons with respiratory diseases, as well as screening patients for alpha one.

Do you look at different tests for different people? For example, you guys have mentioned a few comorbidities and we've talked about hypertension. I love that comparison.

So when we think about different comorbidities and patients who have things like congestive heart failure, chronic kidney disease, congestive lung disease, or, you know, et cetera. Do you look at different tests for those patients?

[Dr. Strange] (11:21 - 13:35)

I think the point for many practitioners is that a lot of diseases we use. Some of them are restrictive. Congestive heart failure is the best example.

And what we're looking for before you prescribe inhalers that these days are sometimes increasingly expensive is that you want to see some obstruction. Asthma is reversible obstruction. You don't have to see obstruction to give an inhaler and wonder if episodic obstructions in the background in the mix.

But COPD is fixed obstruction. You're going to see obstruction and you want to make sure that your FEV1/FVC ratio is abnormal, either by Z-score or the fixed ratio of 0.7. And what you do beyond that will sometimes subtly help the endotypes, the subphenotypes after the diagnosis about how much is emphysema, how much is chronic bronchitis, or this whole mix of having an asthmatic component in there as well. And, you know, as we start looking at our blood tests and finding eosinophils and the other aspects of COPD that help us to find specific therapies, we have tests like lung volumes and the diffusion of the lung for carbon monoxide and nitric oxide sampling that help in that regard.

But the sprometry is still the mainstest, the way you get into your subsequent ordering. If you're not busy at this practice, sometimes you just do the whole shooting mix and I think patients don't like that as much first labes because they spend full 60 or 80 minutes in the PFT lab and they come out, but sometimes that's what's needed at least on first evaluation to really get a good feel of what disease we're dealing with because therapies do diverge over time. Not everybody just gets a triple inhaler and see you later.

And so I think that piece of trying to pick the right test for the right individuals is very individualized. And I think we can spend a whole hour talking about the value of each of those. But I think to start with this brometry and then go from there is the way that most people do that and it still has some good value.

[Corrine Young] (13:36 - 16:02)

Yeah, I think if you're new to ordering lung function testing, there's so many acronyms we're using and it can get very confusing. It's brometry basically is looking at your force bottle capacity, your force X toy volume in the first one second, that ratio between the two that tells us is it obstructive a dot. We love to challenge them with bronchodilator to see if that obstruction is reversible or not, or what kind of response in this they have or don't have.

The full pulmonary function test with the spirometry portion, lung volumes and diffusion, the gas exchange is very helpful because there are treatments that may be geared towards patients who have, if they do have a COPD and obstructive disease and they have a lot of air trapping and a phezema, they might be a candidate for endobronchial valves and that's one of the ways that we screen is through a full lung function test that gives us the reserve volume and total lung capacity.

If their gas exchange is extremely low and out of proportion to what we're seeing in their lung disease, you know, is there a comorbid heart failure or pulmonary hypertension or something else that's going on that's affecting their gas exchange because life's not fair and diseases happen together and influence each other. And I joke that, you know, we play tennis with a cardiologist all day long, whose fault is it? This patient's breathless when they have both heart and lung disease.

And we know that smoking is a risk factor for COPD but also for all sorts of heart disease and so oftentimes these patients have, again, that concomitant process going on that's influencing their symptoms and that spirometry, again, at least or the full pulmonary function test is really going to help guide you as to is their change in their lung function despite changing their symptoms and also will guide you towards phenotyping that patient a little bit further of what type of COPD, what types of treatments could be available for them.

I think, like you said, the lackluster spirometry and people doing less of them, something I've heard providers say is that, well, now that most of the inhalers are approved from both asthma and COPD, I know I'm covering them regardless of which one it is without knowing exactly what they have. But, you know, the ICS risk of pneumonia isn't zero for these COPD patients and if they don't have those elevated eosinophils of at least 100 or greater, are you really doing them any benefit, giving them that triple therapy or not, right? And then, of course, we don't want to miss out on ICS therapy if they're an asthma patient because that's our cornerstone management for those patients.

So that's really where defining the disease is so important for these patients. They may miss out on treatment opportunities.

[Dr. Strange] (16:03 - 18:03)

Yeah, I agree. You know, it's that hope and I think there is also in COPD and over-diagnosis rate that is not insignificant, dyspnea happens from some conditions, particularly obesity, that that ends up having restricted spirometry, but they get the inhaler anyway. And in that situation, you're just wasting the resources and the patient doesn't get better.

They get frustrated. They go somewhere else. And to be able to actually get the right diagnosis, and now that we have GOP1s available, we can get the right diagnosis for your dyspnea, even without inhalers occasionally, depending on getting the right disease staying.

I think there's another piece here that we really hadn't talked about, particularly in primary care. And that's you get this spirometry. You've got one in the back office, and let's make sure that you learn how to interpret it correctly, because if you get it but you don't interpret it the right way, then people get frustrated as well.

Or if your skill set just isn't there yet, and it's a little bit complicated these days, we have two different strategies for interpretation with FEV1/FVC ratios, and Z-scores, and kind of this whole transition is going on, then one of our recommendations is just to bring the individual in the office or yourself to one of the laboratories that does university's spirometry and a leverage in the United States is going to welcome you in their doors, just kind of sit and observe with the patient's permission and kind of give the technique right, and then the interpretation strategy can be done at the same time where you just feel comfortable. And once you, if you don't feel comfortable with spirometry, then you don't feel comfortable with the interpretation, and then you don't prescribe the right medicine. So I think there's a lot of that that actually is an educational opportunity for all of us.

[Corrine Young] (18:03 - 19:37)

It's an effort-dependent exam, right, and the patients have to put in the right amount of effort to do it, the maneuvers have to be repeatable, and so if you're not spending time looking up flow loops that kind of give you an interpretation of the patient's effort, and they're a maneuver, and if it's a good one or not, and if it was repeatable, that is so, so important because you could get values that are very nonspecific, you're not sure what to do with it, and like you said, it kind of leads to frustration and clouding the picture of what's going on.

An example of that also would be if you're just doing this barometry without the lung volumes, and you have a low FEV1, a low FVC, a normal ratio, you don't have any obstruction there, oftentimes the machine will interpret it as restriction, and until proven otherwise, you kind of have to treat it that way, and I've seen patients have a huge zillion dollar workup for restrictive lung disease, and when we do their total lung capacity, it's actually normal, and maybe the reserve or ERV is low, and it's obesity related, right, or nonspecific ventilatory impairment that we use to call it, so again, having a full picture really helps understand that your pulmonary partners, you know, we're all very excited to help interpret these things as well.

If you don't feel comfortable, there's great opportunities of learning, spirometry, interpretation online, a lot of the institutions like CHEST have some great PFT interpretation courses to go through as well, their annual meetings, so lots of resources out there if you are interested in learning more about it.

[Dr. Strange] (19:38 - 20:46)

I think I'm going to dive into the Z-score versus the ratio here for just a second. You know, I grew up because I'm older, out with the FEV1FEC ratio, defining obstruction, and therefore giving us the impetus to prescribe inhalers, and I'm not so sure that primary care these days has made the transition to a Z-score minus negative 1.65 and understands the same degree of obstruction, and everybody can look at a green declines, but if you have age-related decline in lung function, this improved with spirometry, even if you're just like all the other 90-year-olds right besides you, I still think that's COPD, and we're under-treating our elderly with a Z-score only, is my personal bias here, and I could set up a whole storm in the COPD foundation around interpretation and spirometry. Corinne, what's your idea?

[Corrine Young] (20:47 - 21:50)

I'll quiet the storm for you in saying, you know, one of the things we learn in medicine is that numbers are numbers, it's not the patient, right? So you want to look at what fits your patient. So if the flow loops are very, you know, curved, I've got, I've got scooping in my flow loop, my Z-score is not quite there, my ratio is 0.69, patient symptomatic, they've got risk factors for COPD. You know, I'm just going to put the whole thing together, right? I wouldn't say get too hung up on it. What's nice about the Z-scores, you don't have to worry about doing math and worrying about the 1.645, you know, whatever you're looking at there, if they're falling outside that measure, but you can't look at that bar graph, which is great, and say, okay, they're falling within a normal range. I think if you do want to be a purist about the Z-scores, it's great, especially when we're looking at race-based, and a lot of our spirometry calculators that come with the equipment that we get, you know, some of them are still race-based. And so I think that's also where the Z-scores may help with interpretation there as well.

[Dr. Strange] (21:50 - 21:58)

Yeah, just realize there's a little bit of a controversy in the Pona community is there is actually to talk it out here.

[Dr. Young] (21:59 - 22:06)

Oh, within my own practice, we have 10 providers, and I would say it's you're on one side of the fence or the other. It's like 50-50 in our practice that will look at Z-scores or not.

[Dr. Strange] (22:07 - 22:10)

Okay. Should we move on to blood tests then?

[Tralisa Willis] (22:10 - 22:46)

Yes. So I was actually, as I was leaning on everything that you guys were sharing with me with us. I want to, I'm going to go back just a little bit.

We talked about your workflow and going from spirometry into further testing, and I wanted to kind of touch a bit on a population that is pretty under-diagnosed, and that's alpha-1. So I'd like to know at what point do you begin to consider including alpha-1 testing into your workflow, and then we can see where that takes us?

[Corrine Young] (22:46 - 22:53)

Well, the king of alpha-1 is here. So I'll let Dr. Strange start, and I will follow as a humble subject to discuss how I spring off.

[Dr. Strange] (22:53 - 25:57)

Oh, y'all saw it. The the topic of blood testing is not something we've historically done in COPD. You came to do the to the pulmonary practice, and they did breathing tests forometries.

We've been talking about forever, and you go to the liver doctors instead. How many blood tests do they order? They order like 25 blood tests to try and figure out what your liver disease is like, and they don't order the testing.

I think that there are three blood tests that every patient with COPD needs, and that's an alpha-1 test. We'll talk about which kind in a minute, an IgE level, trying to figure out how much is allergy, and an eosinophil count. Now that we have medicines directed against the eosinophils, and that's just a CBC with death, this is often already in the chart.

On the alpha-1 testing, we still have some controversies around just getting a level, which at my hospital is the $30 test, or versus trying to do a genotype, or use them on the free services. We do empower our pulmonary function testers, our respiratory therapists, actually test for alpha-1, particularly after they're giving their bronchodilator, and they're sitting there just chatting it up for 10 or 15 minutes to actually do a cheek swab with one of the free tests that are in the community, or two on the way out the door, go by the lab and get an alpha-1 level as testing. But our guidelines that have been in place in 2003 say that everybody with COPD needs a once-in-a-lifetime test for alpha-1, and we end up finding individuals that need further tests when we have intermediate levels, but we can, with a very low level, diagnose severe deficiency quite readily with a level alone.

It's just that there are a whole lot more carriers of one zeolule, and we know that those individuals, when they smoke cigarettes, are also at increased risk of COPD. So, many people feel that the genotype that gives you the two letters of your genetics of alpha-1 is a better test, and it just comes with a little bit more expense than what you use on the free testing services. So, given my choice, I'd rather have the combination of level and genotype, and that's what most people do, but it often ends up being buried in the chart, can't figure out, I've been there before trying to figure out if it's been done before because you don't really need a second one because your genes don't really change over the course of your lifetime, and the level will fluctuate a little bit, but it's really the genetics that define your risk for COPD. So, once in a lifetime, saves money, easy to do, and I love to do it at the sprometry level, not that we can't use AI and figure out all the patients in your health system that might be at risk for COPD a little later.

[Corrine Young] (25:57 - 28:11)

I'm excited about AI and how it may help us find these patients because there's over 100,000 of them out there likely. We think we may be closer to 250,000 or so, we don't know, but we only have identified how many are in registry now, like about 4,000 and something 5,000, 8,000. I can't remember exactly how many are on registry now.

So, you can't identify those alpha 1 patients without screening. You can't cherry pick who you're screening, nothing looks the same when it comes to alpha 1, and it's important to identify those carriers as well. There's more that we don't know about alpha 1 than we do at this point, and so collecting that data is so important, getting patients on registry, counseling them genetically is so important, and there are great guidelines out there.

The American Thoracic Society guidelines are what we follow in our practice. We put it in our PFT lab, we screen them in during visits. I like to at least the first visit.

If I know they're coming to me with a PFT, they're already diagnosed. I've confirmed the diagnosis. Based on their findings, I asked them that very first visit if they've ever been screened.

We used to do the finger poke for a lot of patients, which was great because it gave us the genotype and the level, which was great. Levels are concerning because they're so variable, and if your patients acutely exacerbated at the time, those numbers can be falsely elevated in patients. The new buccal swab, cheek swab that we have only gives us genotype, and it's only 14 alleles, I believe, and so things could be missed there, but I'd rather have that screening than nothing, but we do want to make sure we're screening.

I agree with the blood test. A CBC with DIF is very important, not only for the eosinophil count, because we do have their piece now for exacerbations in patients who have type 2 inflammation and COPD, but also looking at their H&H. Sometimes we have anemia that can explain some of their dyspnea.

Sometimes that can affect your diffusion capacity, also if you're not correcting for hemoglobin, and then also gives us an insight of maybe if this patient has polycythemia, do we have some hypoxia? We have an address in those patients as well.

[Tralisa Willis] (28:12 - 28:45)

I'd like to edit a question into what you guys have shared. So we're discussing alpha 1 screenings. How should clinicians approach a patient with an abnormal alpha 1 screening result?

I'm just going to tag a little bit a little more to that. Is there ever a time that we are possibly missing an alpha diagnosis even with the screening? Is it possible that we could have a negative result and the patient does in fact have alpha 1?

[Dr. Strange] (28:46 - 30:37)

But so we make the diagnosis of alpha 1 by blood tests. And so it's one of you can't look at somebody and figure out if they have alpha 1 or not. It's only done through serologic testing.

And so we define alpha 1 by a low alpha 1 level. And alpha 1 levels move up and down. And so just recognize if you have one normal so-called M gene, that level with stress will go up and down.

The Z gene will move just about 10% within that. So the majority of people have a large response or change over time or not ZZ individuals, the most severely deficient form. And so their level will always forever be low.

And so if you're only screening for ZZs, then a level test that's very cheap is adequate. But there is value to knowing who has one Z gene and during extreme stress or an exacerbation, their levels can be above the normal range. And so that's the reason to add the genotype to is recognize that there are 10 tons more MZ individuals than ZZ individuals just on the basics of the genetic distribution.

And we've got to remember that 3% of all Americans have at least one Z gene and 3% have one S gene. And so you will find abnormal genes if you start testing regularly here. What to do about them is the topic of the next podcast because that's the whole right here around treatment versus just recognizing one of the risks that they have for COPD and being able to explain it, explain the family risks, and translate some of that out to lung health and the larger family and into the community.

[Corrine Young] (30:37 - 31:50)

Yeah, I think if you're screening, even at the level level, you're not going to miss the severely deficient patients who qualify for augmentation treatment or other therapies. You're going to miss the carriers, right? And we know that MZs, for example, tend to be more symptomatic, they tend to have more exacerbations, they just tend to be more problematic patients that you're going to see more frequently.

I like knowing they're an MZ because I'm like, okay, this patient's going to need maybe a lot more education on exacerbations and how we're going to treat them and do they live in a remote area, you know, in Colorado where patients that live way out in the mountains hours away. Is this somebody I want to have antibiotics and prednisone on hand at their home because they, you know, because of exacerbations and that. But, you know, also those carriers are important.

Sometimes our transplant centers even take that into consideration when they're looking at transplant and stratifying, you know, different COPD patients and who they're looking at for transplant. So I believe getting that phenotype is important just to really understand your patient a little bit better and what therapies they may or may not qualify for. Just as important to roll it out as it is in.

[Dr. Strange] (31:50 - 32:21)

Yeah. Now I would add that if you're dealing with any degree of liver disease, remember that alpha and patients get liver disease and lung disease that the liver disease absolutely needs the genotype because even one Z gene adds meaningfully to the risk for liver disease, usually with another condition, most common being mash or metabolic syndrome associated with the hepatitis and and the liver disease risk is very real these days with all the obesity epidemic that's striking America.

[Tralisa Willis] (32:22 - 32:59)

So there are a couple of things I've heard but I want to share it just a little bit more. There's so much great information. Now we know alpha one, alpha one patients, you know, they're a positive alpha one screening results, excuse me, could have potentially have familial impact, right?

So just how important is is it for patients to have the genetic counseling or patient family education fees? How important is that?

[Corrine Young] (32:59 - 34:08)

I think there's levels of genetic counseling. I think a general provider could say, you know, you have an abnormal allele, maybe just one and you're considered a carrier and if you have siblings, you know, they should likely also be screened because if both parents were MZs and your patients in MZ, there's possibly that one of their siblings is a ZZ, right? That got two abnormal alleles from their parents.

So just saying that that is an option, there's now opportunities to have kits, you know, because oftentimes their siblings may not live in the same state. So giving them resources of like how they can get kits mailed to them to be screened. A little deeper genetic counseling can happen through alpha net, which is a great resource.

I try to give even my carrier's information for the alpha one foundation and there are patients that they can talk to there. There's genetic counseling opportunities through alpha. I'm a community practice and so you know, we don't have genetic counselors available to us for this here locally, you know, despite as being a CRC, but I have national Jewish in my backyard and so, you know, I send some patients up there occasionally.

But I'd love to hear how you're doing it, Dr. Strange.

[Dr. Strange] (34:08 - 36:01)

Yeah, I think you're doing it exactly right because there aren't enough genetic counselors to go around in America and to spend an hour and write out the whole family tree and figure out all the great uncle Bob's medical story is not done very often. So I always recognize that alpha one is a genetic disease and this topic of screening the family is important even if they live in another state. And it's hard these days.

So we don't really have, I don't think we have the right tools to be able to do that. The Alpha One Foundation has just set up an independent laboratory called Alpha Detect, and they have a playbook by which they think they can do a little bit better at family testing and try to figure out exactly what the messages are and have some remote testing to different states that is easy. It's just hard to for the average busy practitioner who gets 10 minutes to kind of talk about testing a brother or sister in another state and giving them the tools and in the short visit times that people have.

But that's actually what's done. If you tell the patient to tell their brother that they need testing for and they don't even remember the name of it, then it just never works. So there's some just boots on the ground sort of playbook issues that are available out there.

And I think it's one of these seals where announced their free tests and and they're over the counter now as the first genetic over the counter test. This has been FDA approved. It means that there's really not a good excuse for anybody not getting an alpha one test if there's an alpha one patient in your practice and they have families.

So just out there is available. It's a good message for all practitioners to screen your alpha one families a little bit more extensively.

[Tralisa Willis] (36:01 - 36:23)

Well, as we prepare to close, I want to thank you guys for such an amazing conversation. But I want to give you both a moment to if there's anything that you would want a provider listening to your conversation today to walk away with in regards to appropriate screening and interpretation of results for patients, what would that be? And we'll start with you, Dr. Strange.

[Dr. Strange] (36:24 - 37:07)

I would like to see a high level accurate and appropriately interprets for rometry on every patient that has COPD written in their chart in America. That tease, I think if we did that, we would improve COPD detection because now everybody would have to get sproutering. You'd figure out that some people that have COPD written their chart don't have COPD at all.

And therefore, you would improve the lung health of all of America does have that in every single practice that has COPD written in the chart. It's hard to get it out of the chart once it's in there, I get it. But that's my golden wish.

[Corrine Young] (37:07 - 37:46)

Yeah, I would say don't assume. We know only a quarter of smokers end up with COPD as the dirty little secret. And I have oftentimes patients, again, gray hair, smoking history, they can't breathe, they're coughing, they're wheezing, and they get diagnosed with COPD, and often, not often, but it happens where they don't actually have COPD.

You have to have the sprometry, and if they do have COPD, they have to have an awful one test. I mean, again, just as important to rule out as it is to rule in treatment options are different for those patients. Access to interventions are also very different for those patients, too, because of how quickly disease progresses with alpha one versus patients who don't have alpha one.

Wonderful.

[Tralisa Willis] (37:46 - 38:25)

Thank you both again for sharing your expertise and practical insights with us today. But today's discussion highlighted that screening results are a very important starting point, not an endpoint. Accurate interpretation, appropriate follow-up, and patient-centered communication can help clinicians identify disease earlier and improve outcomes for both patients and their families.

If this episode resonated with you, check out the resources linked in the episode notes and share this episode with someone who needs to hear it. Thank you for listening to the Lung Health Champion podcast. Until next time, stay informed, stay engaged, and continue championing lung health.

[Voice Over] (38:27 - 39:25)

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