How Genomics Will Revolutionize Healthcare in the Next Decade

Episode Summary

Genomics is one of the fastest growing fields of medicine today, and our experience with Covid-19 has only accelerated developments. Hear from Harvard-trained medical geneticist Dr. Marsha Fearing and doctor of pharmacy Anna Dover, director of product management with FDB (First Databank), to get their perspectives on why and how genomics is about to change healthcare in the very near term. They explain how a patient’s unique genetic profile dramatically affects their response to medications and other therapies, and how physicians from all specialties will soon be able use genetic insights at the point of care, without disrupting or slowing their workflows.

Episode Notes


1:00 - 2:15 


2:15 - 4:12 


4:12 - 7:08


7:08 - 18:19


18:19 - 20:35


20:35 - 26:03


27:24 - 29:10


29:10 - 31:10


31:10 - 35:56


35:56  -  37:40


37:40 - 42:35

Episode Transcription

Title: How Genomics will Revolutionize Healthcare in the Next Decade

Guests: Dr. Marsha Fearing, Harvard-trained medical geneticist 

Dr. Anna Dover, Director of Product Management, FDB (First Databank)

Host:  Jennifer Ford,  Product Manager, Genomics, MEDITECH

Christine Parent, Associate Vice President, MEDITECH

Dr. Fearing: I think terms like 'MRNA' and 'sequencing the variants' - these aren't science fiction terms anymore. These are terms that the lay public understands even now, and so the question is how do we share with physicians what this can do and why genomics belongs in the EHR. 

Christine: Welcome to another episode of MEDITECH Podcast. We're the leader in healthcare technology empowering you to be a more informed healthcare consumer and provider. Hear the latest from our friends and colleagues on topics we think you should know about. I'm MEDITECH Associate Vice President, Christine Parent, and today I'm excited to introduce a topic that's guaranteed to have a dramatic impact on health care: Genomics. In moderating today's discussion I've invited Jennifer Ford, a Product Manager at MEDITECH with more than a decade of experience with our Laboratory products. I hope you enjoy today's discussion. Here's Jennifer.

Jennifer: Thank you, Christine, and hello everybody. As Christine mentioned, I am Jennifer Ford, the Product Manager of Genomics at MEDITECH. I have spent years working with a variety of parties across the industry to make precision medicine a reality within the Electronic Health Record and we're very excited for what we've accomplished. But I'm also enthused today to discuss a topic on the cutting edge of healthcare with two experts in the field - Physician and Medical Geneticist, Dr. Marcia Fearing, and Doctor of Pharmacy, Dr. Anna Dover. 

Dr. Fearing is a Harvard graduate who has completed fellowships in Clinical and Biochemical Genetics and has been in practice for over 20 years. She's also served as a CLIA Certified Lab Director who deeply understands the importance of genetic data to all specialties as well as the challenges that clinicians face in utilizing that genetic data today in the real world. 

I'm also excited to announce Dr. Dover. Dr. Dover is a Clinical Pharmacist and the Director of Product Management at First Databank. Dr. Dover has deep expertise in best practices for alerting clinicians in multiple different senses but has also spent many years working on pharmacogenomic interactions and how to make them a reality. I'm going to just start off with a rather blunt topic: why is there a need for this? Why is genomic data so important? And Dr. Fearing, I'll toss that over to you to start off with.

Dr. Fearing: The biggest reason is because molecular genetics, as we are rapidly learning in the era of Covid, interacts with every aspect of medicine. No questions asked. And I think a lot of the things that from when I began medicine over 25 years ago things that we used to say, 'Oh well this patient for example is resistant to this drug... or this patient is', we now know actually that they have an underlying genetic mutation that impacts the way they can metabolize those drugs and we have a lot of insight because technology has advanced so rapidly and become so accessible and far less expensive than it was when I first started. So now it really informs a lot of decisions on how to best target therapy, how your genetic makeup impacts both your ability to manage therapies but as well as the disease itself. It just gives us one more tool in our arsenal to better care for patients essentially. 

I just think about what I was taught in medical school, like with SSRI's for example. It's like, 'Oh you know, on average most patients have to try three different kinds in order to find the one they're going to land on. But, you know it's going to be one of these three'. Well the reason that is the case is because probably 30 percent of patients will have a mutation that makes them not metabolize that effectively. So, wouldn't it be great if we could cut that down and instead of saying, 'Well you're going to have to probably try three different kinds before you find the right one', wouldn't it be nice to say 'If you have this mutation - don't take this take this', and then get it right the first time. Wouldn't that be great?

Jennifer: Multiple great points in there. I think a lot of times as patients we often think of Genomics in the Oncology space, but there's so many other areas that as a patient I'm not even aware of, that genomic data could be used to help treat and better treat. And Dr. Dover, I know Dr. Fearing made a few really great points in there about the metabolization of drugs and drug gene checking. Are there any specific use cases that you've come across where this could be used in daily practice from clinicians?

Dr. Dover: Yeah, absolutely. I think the science has evolved to the point that if you look at guidelines out there now you'll find that more than 60 percent of patients in a family practice setting could benefit in their medication therapy from this type of testing to preempt from a safety perspective and then also to get to that therapeutic effect faster. So common drugs that we think about like Simvastatin, which is used to treat high cholesterol, that's a drug that you could prevent a potential adverse effect with myopathy or muscle pain by doing this preemptive testing to make sure that you can prevent that ill effect with the patient ultimately improving their adherence but that cholesterol lowering med and long term improving their outcome for why they're treating that high cholesterol level.

Dr. Fearing: You know, Anna, you just made the case for it perfectly right there because that's not science fiction. I mean Lipitor, Simvastatin, drugs like that - literally every physician probably at some point in their training or career they've encountered those drugs they've encountered those situations where, unbeknownst to them, they really were dealing with a drug gene interaction. And just because you don't know that they have a mutation doesn't mean you don't have to think about it and that's where it gets complicated.

Dr. Dover: I think most folks may be unaware, but greater than 90 percent of patients out there would have some type of genetic mutation or difference that could impact one of their drugs and their drug therapy. It's a huge number that's out there really, so.

Dr. Fearing: That's a pretty crazy number, 90 percent of us, and as we know in genetics, we all have every single human on this planet has at least five mutations - genetic mutations somewhere in their genome. Maybe it's in a disease conferring area, maybe it's not, but the fact that there's been multiple studies that have shown definitely without question you have something in your makeup that impacts some drug you will take.

Jennifer: I think that 90 percent number just knocks you off your chair when you hear that because if that's the case we certainly know that 90 percent of patients aren't being tested for these items when they're being prescribed the medications. And as a patient myself, that gives me a little bit of pause because why isn't that happening and why do we think that there's been such a slow adoption with using this genetic data when we know that there's proven outcomes and that there's proven interactions with these drugs why isn't this being picked up as quickly?

Dr. Fearing: Because it's expensive. But when I first started in genetics, I mean to really look at this information, you would have to do some whole genome sequencing and the testing to do this just wasn't very practical and then as technology has evolved as we started doing things like microarrays and the technology has become better in molecular genetics, it's gotten more high throughput, it's gotten less expensive, I mean just by way of comparison - when I first started to look at the very few mutations we knew about in the Cytochrome P450 Pathway, which is the one that's responsible for the majority of drug metabolism, correct Dr. Dover, is that would you agree with that?

Dr. Dover: Correct.

Dr. Fearing: So in order to even just look at the few we knew about it was probably three thousand dollars. And now you can run a microarray for maybe a tenth of that and it's far less expensive, it's a lot less blood, and more labs are doing it and getting better at it and we have a lot more information about what the mutations mean. And there are so many mutations in the over 50 enzymes in the system that are active in the human species and these are not esoteric science fiction things. These are very common things we see in our lives. We see grapefruit juice, we see antipsychotics, antidepressants, SSRI's. We see there's a very common medication, Plavix (clopidogrel), which you know was widely used a few years back and both to prevent stent thrombosis and a few other things with anticoagulation. And, as it turns out, in the Caucasian population for example about 30 percent of people have a gene mutation that's going to impact the way you deal with this drug. So there really is a use case for being smart about what is a patient's genetic makeup?

Jennifer: That's a really good point. I think, too, as you mentioned so many good points in that topic of what is the patient's genetic makeup, how do clinicians know, how do they use that in practice, and where do we go from here since we have all of this information. I know that from my perspective on the more technical side getting this data as if you can perform the testing and getting it into the Electronic Health Record has always been a little bit of a struggle because the foundation hasn't been there. And, I ask Dr. Dover now - How does that impact the physician's use if they don't have the best access to the data? And how can we make that better? And how can you, working towards as a part of First Databank make that better through clinical decision support?

Dr. Dover: Yeah, I think if you look at some of the challenges clinicians have faced over the years, in particular physicians and implementing this type of screening in the workflow, one of the great challenges is translating that genetic information into a clinical action, right? So you know Marcia is a geneticist so her background alone allows her to assimilate this into practice, but there's so much information, medical information in general out there. How do they know when it matters? How do we put it in the workflow to allow them to do that? 

So I think the first step is that translation of the lab information into a discrete way and then the next step is providing some type of clinical decision support in the workflow that is actionable and conveyed at a level that makes it easy to interpret and move forward. There's so much information thrown at clinicians when they're in software for many reasons - for safety purposes, for billing purposes, it's important that to move past this and convey the information in a way to a physician to want to act on it to be able to easily interpret and act on it. The messaging, the workflow point, and the ease of understanding what's expected of me with this information is really critically important and I think MEDITECH is on the path there right now, right, with interpreting that information so that we can get it where we need it in the workflow. 

Dr. Fearing: Anna, you are right on the money. I mean it's such obscure information to physicians and it's hard for them to manage it. You're exactly, exactly right. Because generally if it's even ordered or thought about it comes in this weird .pdf with a lot of terminology most physicians haven't thought about since medical school, whenever that was for them, and it's in this miscellaneous tab - is it send out lab? And they don't really know what to do with it and how to consume it. And it's not a part of it, it's not really in the EHR, it's not a part of it. And oncologists, of course, are really good at thinking about that - that's what they do, that's their bread and butter. They need to know that molecular genetics information both to diagnose, and to manage the treatment, and to even start therapy now. 

It's pretty standard in most cancer protocols that you have to get the mutations for rapid metabolizers because they can really easily make their patients toxic if they aren't aware of those things. So that's standard for them, but for literally everybody else in the practicing world this is something they thought that they could sort of leave behind after second year genetics and pharmacology class and it's just it's one of those things that went in and out the ear and it's understandable because this changes literally every week, you know. There's a new indicate and it's exhausting for geneticists.  

So for somebody that's not at the forefront, you're a thousand percent right. And how do you manage that information and how do you make it easy for physicians? Because EHR's don't know how to grapple with this information. It's in your germ line, which is you know what your constitutional makeup is, but then you can also have things go horribly wrong and like a tumor after you're born and so you've got to deal with this concept of somatic mutations, too. So right then it's like, well, I have this testing - what's it in? What does it mean? How do I interpret it? and then how do I translate it into prescribing? Right? So, I love what Jen Ford and the product team at MEDITECH has done to grapple with this because if it was easy we would have already done it. Everybody would have done it. And the simple answer is - it is not easy to manage that information. 

Jennifer: Yeah so from that background and, Dr. Fearing, what you touch on is the new genomic solution at MEDITECH, where the distributed data is brought in from the labs and served up to First Databank in order to provide those clinical actions at the time of that medication ordering so that the clinicians can have the best piece of information at the time of ordering. They have all the references as well. And I think it's a really good point that Dr. Dover had also brought up about making those pieces of data actionable and understandable because as Dr. Fearing, you were saying, there's so much information being thrown all the time at clinicians. They can't manage it. 

Dr. Fearing: And because you pulled that straight in from the laboratory you know, Jen, what that means is if it zips straight from the reference genetics lab, zips into the EHR itself and there's discreet information guess what - now you can do something about it. And, really, a busy primary care doc or a busy cardiologist - they don't, you know, really want to know all of the scientific background into why this mutation is disease conferring and all that. They want to know they're not going to kill the patient if they put them on a drug, right, that's what they want to know. They want to give the right care at the right time to the, you know, right patient. So one thing that I have noticed in my own practice life during Covid, certainly as well especially with my colleagues, is how does functionality, how does something electronic, how does it add or make your life easier? Because that's a really important determinant of functionality. Anything superfluous is not going to be a part of your life and if it's just that one extra mouse click that makes a physician quit - that's not tenable. 

And the benefit to Covid, I think, has been really illustrating how important molecular genetics truly is. I think terms like MRNA and sequencing the variants - these aren't science fiction terms anymore. These are terms that the lay public understands even now, and so the question is how do we share with physicians what this can do and why genomics belongs in the EHR? How do we convince them that it's not going to be additive to their burden - because they have a huge burden right now that is absolutely unprecedented. 

Myself and my colleagues, physicians are asked to know so much at baseline, without a doubt, and keeping up with your discipline if you're an orthopedic surgeon or if you're a primary care doctor keeping up with literally everything - how do you keep up with the standard of care which is genetics which seems really obscure and really something that is not going to apply to your practice life? It's not like delivering a baby, or you know, stopping a bleed. It's something that seems not really relevant to your daily practice. But the answer is - it is. It affects every aspect of medicine and it affects how well your patient is going to respond to a therapy or if they even are going to respond. It determines who is going to get sick, and maybe who is going to have a better outcome, and what drug would be the right drug for this person. We sort of know these things kind of by trial and error. Maybe this SSRI isn't right, maybe this person shouldn't drink grapefruit juice while they're taking this, but there's a genetic reason, for the most part, that explains all of this. 

But how do we incorporate that into our daily practice in a way that keeps pace with this rapidly changing science? And the answer is - you make it easy. The answer is - it should be a part of the daily workflow. It should be no more glamorous than checking for a drug-drug interaction. It should be a drug gene interaction. Because here's what I know - if you ask a physician to have to do something extra, right, now on top of everything else that's piled on them.. it's not going to happen. So it needs to be easy. That's the bottom line. 

So I love what First Databank does with this and what the MEDITECH genomics solution can do. You can marry those two things that have worked together for a long time on things like drug- drug interactions, drug-disease interactions and you demystify this whole field of genetics and you just make it a drug gene interaction. It should literally be that unglamorous. And I love what you guys do, Anna, at First Databank. You just make that information consumable for doctors. I mean talk about that. I mean how was it to really add this sort of brave new world of drug-gene interaction checking? 

Dr. Dover: I think it's been a fun journey. I've been with the company about four and a half years. We have a long tenure in our company. Our company has been around for over 40 years, so we've been providing this type of clinical screening for a long time. To your point with drug-drug interactions - with drug-gene screening one of the big differences, because we've learned a lot over the years and seen how alerting and medical information has grown vastly in the landscape, we really focused on how do we make this a concise message for that clinician to easily interpret? And we partnered with clinicians, a physician actually, who was leading a sync for genes project at a health system that when we started with our initial prototype of this alerting, and he pushed on us to say 'tell me why you're alerting, and tell me what I'm supposed to do'. And, so, based on that that's what we focused on. 

Our clinicians work hard. We limited it. We said okay no it's not how many characters fit in the display, it is you get five words or less. Now, we didn't necessarily hit five words or less on each statement, but it's pretty close. And I think just focusing on bringing it up to that very specific messaging, very concise, it allows it to be very interpretable across the healthcare continuum - whether you're a specialist and used to this type of screening like with HIV patients and abacavir screening, they've likely already been doing this. To the family practice physician that's just starting to experience some of the information available on uncommon things like antidepressants. 

Dr. Fearing: On antidepressants - I want to jump in on that, because actually we did a demonstration for a psychiatric hospital not too long ago for the genomic solution and it's as though karma interceded perfectly in that moment, because literally the week before our demonstration, that's when CPIC, which is the governing body of.. Jen what does CPIC stand for? 

Jennifer: The Clinical Pharmacogenomics Implementation Consortium. 

Dr. Fearing: So the CPIC guidelines, which establish the standards of care and how we dose medicine based on what certain mutations are - they had literally just come out the week before with guidelines around Abilify, and if you have a 2D6 mutation, and this particular hospital almost all of their inpatients that were schizophrenic - many of them had some difficulty getting therapeutic on different medications, and their stay far exceeded the 60 days that they like to try to stick to, and the CPIC guidelines suggested that if you're starting a patient on Abilify you need to reduce your initiation dose by 25 and boom it updated in real time. And that's what I love about 1. Being a cloud-based solution, and 2. 

Our partnership with First Databank, because that real time guideline that came out First Databank manages, curates, puts in their guidelines, and it automatically updates in real time. I mean I didn't have to do a thing, you know, I didn't have to do a build, I didn't have to call IT, I didn't have to do anything as a geneticist. It just happened automatically and we were able to show that functionality to this psychiatric facility and boy that's a pretty compelling argument, because the whole management of some of those inpatients in that setting, you know, is really about getting the medicines right. So I can't think of a more perfect example than that situation that we were in, and what First Databank does in curating this information. 

Jennifer: You know, Dr. Fearing, I just got a little bit of goosebumps as you were talking because I think those use cases can be very personal to many of us in our lives with families and friends who have struggled with different issues in the mental health space, and even more common now throughout this pandemic. And how the prescription of these drugs are really just so important to get the right dose at the first time because a lot of times, you know, after dosage if you mess up the dose the first time, it's been proven in studies that only eight percent of patients receiving those medications feel that medications will help them in the future afterwards with their issues. So..

Dr. Fearing: Especially in mental health you know where all of those drugs, Dr. Dover feel free to jump in on this as as the pharmacology expert, but you know so many of the antidepressants, so many of the antipsychotics, I mean so many of them are exquisitely affected by cytochrome p450 mutations and these are super common in the population. I mean up to 30 percent of the patients that are receiving these treatments will have a mutation. You know, it's a pretty high number. 

Dr. Dover: Yeah, it's the human side of things, too, right, It's a quality of life issue if it takes longer to get to a drug that works for that patient, right. It's a delay in their care to get to that state that they need. It can impact adherence to any medications in the class to Jen's point. If they've had an adverse effect with one drug in the class initially that could have been prevented, then I think those are key things, especially when you get into the mental health side of things. They're challenging diseases in general, and so to try and treat them as expediently as possible it's very important. And you mentioned, on the length of stay issue, I mean you can see you, talked about the cost of testing that can be one of the challenges for organizations to overcome. Now think about if you can reduce length of stay on a patient because you got to their therapeutic state sooner - now you're already demonstrating a return on investment for your genetic testing program. So I think there's a lot packed in there just when we talk about one set of how we can help impact and improve care for patients in particular settings and then in general as well just across medicine. 

Dr. Fearing: And what's the cost of human life and quality of life, you know. And I feel sort of like the town crier because I want to take people who have not traditionally thought of pharmacogenomics and say, this affects you, too. And I've gotten pretty good at it in terms of - I had a surgeon say, why do I care about this? I'm like, well because if you know your patient happens to have an RYR1 one mutation, guess what? They're going to go into malignant hypothermia if you induct them with succinylcholine. And succs is pretty common in a lot of surgical hospitals. I had an ER doc say, why do I care about pharmacogenomics? I'm like, hmm you ever prescribe pain medicine? You ever have somebody come into your ER asking saying I'm still in pain, and you said you're a drug seeker subliminally in the back of your mind - and it turns out they have an inability to metabolize opioids and they're metabolizing it too fast so they're not getting the actual relief. Now that's not to say that maybe they really truly are an abuser, but there may be an underlying reason why they're having the reaction they are. And if we can take out that variable it just allows us to be more precise in our care. 

Dr. Dover: Yeah and I think, you know, a key point too - patients are starting to seek this out on their own genetic backgrounds. But you can choose when you do one of those home tests to decide if you just want to find out your ancestry or if you also want to look for potential mutations that could impact your health. 

Dr. Fearing: Now you're going to make me say this - I have to put a caveat in there that some of those laboratories are not CLIA approved, and many of them do not have appropriate genetic counseling that comes with that. So sometimes that is irresponsible to really do that, because again there are things called polymorphisms which, yes, it's a mutation but it's not disease conferring. And I feel like giving somebody information without helping them to understand what that means is pretty irresponsible. 

Jennifer: I completely agree with everything that's being said here and it also helps us kind of transition into the next piece of our conversation - is there value with having that stored in the Electronic Health Record for your patients, and for patients to provide that information if they can so that we can have the data for clinical decision support and things like that. Is that value real and what does that look like? And Dr. Dover I can start with you as well to get your opinion. 

Dr. Dover: I think we get into discussions around reactive versus preemptive testing, So when you've done that type of panel analysis and it's available in your software, now as new evidence comes to light you have it at your fingertips when you're taking care of the patient. So Marsha mentioned that we had already updated our content around Abilify based on CPIC guidance - that's exactly what you get when you have some type of panel. Whether you need to have the whole genome versus, to Marcia's point, I think about finite resources and finances and medicine for a lot of sites. The idea that you can pick a panel and a lab system based on your patient population that you expect to take care of to make it more financially feasible for your organization, I think is great. And then as evidence grows, which it will, it's amazing how quickly it changes and evolves, that information is now in there and you've done that preemptive testing before the patient has a concern or an adverse effect around that drug. That information's there when you go to prescribe. It's not too late if it's reactive and you're getting the panel later - that information continues to carry forward for future prescribing, but the idea of having it there at your fingertips when you need it and you're caring for the patient when they need that drug, is really powerful. 

Dr. Fearing: The rate at which we are progressing with this science we need to be mindful about the ethics of it. And I think that one of the reasons that I actually like the MEDITECH solution for example, is because you consume that lab information directly from the lab, it's a straight Bolton, you know, you don't have this like third-party housing system or curated in that way, it's just a direct interface. And obviously you reduce human error by not manually putting the mutation information into like a IT-built workaround, for example, in the EHR for decision support; however, what we all need to realize this has a lot of power to match what the phenotype, meaning what the disease looks like in the patient to the actual genotype which is the genetic information. The EHR makes biobanks really possible and there's a lot of interest in that, but we really need to be ethical about what our responsibility is to that information. And I you know I would like to remind our listeners that there is a law in the United States called the Genetic Non-discrimination Act enacted in 2008, and it has been tested in case law. Canada has a similar instance as well that was actually just upheld by their supreme court last year, actually, that states that laboratory information around genetics is literally the most protected lab information there is and you cannot discriminate against patients. Employers cannot access this information, insurance policies and health care insurance, things like that. The ability to access that information once it's in the EHR, we need to be mindful of that, because that is very protected and secret to the patient. So that's one thing,  but at the same time we have the power to really make care better with it. I think that is really also paramount, too, I mean, Anna, how do you guys decide what is an actionable mutation? 

Dr. Dover: That's a great question. So our clinicians actually review a variety of sources, CPIC is one of them. They actually participate in CPIC, as well. They're reviewing the Dutch working group, FDA labeling guidance, clinical guidelines, and what we found is actually there can be differences in the different consortiums, how they rate the evidence and whether or not something is actionable. So our clinicians take all the information and summarize it and present back the range of evidence. In our content itself we identify if something should be interruptive or not. So if we feel it's interruptive then we feel the evidence is compelling enough that someone should take action right now. The other information is there if someone wanted it in a more passive workflow, or if they decided, in our organization we still want to show this - they could still display something that maybe we don't deem interruptive, it's more informational. So we have a editorial policy around what would be deemed important enough or compelling enough to make it interruptive, but there's a there's a process and Christine Cheng is our lead pharmacist in that space we can always bring her on some time to chat through some of her process, and how she's conveying it out and how they make those tough decisions, because it's a great point. How do you decide when it's actionable enough to move forward to stop someone and change their path. 

Dr. Fearing: So here we talk about like population genetics. So, like, if I know intellectually that like, okay so Plavix could affect about 30 percent of the population; however, if you actually have the mutation it is definitely going to 100 percent affect you. Does how common something is ever impact some of the thought process? 

Dr. Dover: Yeah I think it's how common it is, as well as the severity of the potential interaction as well. Right, so you think about something like abacavir in HLA-B5701.. 

Dr. Fearing: What happens there?

Dr. Dover: A severe hypersensitivity reaction. So you really want to avoid that with a patient - meaning a bad allergic reaction, right? And so that, you want to avoid. That could be potentially life-threatening. It's not a comfortable reaction for the patient, so if we can avoid that by testing that's key. Now that's been done in practice with infectious disease physicians for  over a decade in a lot of places because the evidence has been compelling for a long time. But it's been a manual process where they get the .pdf results, you know, the report, they're reviewing it and it's part of their prescribing process because it is such a severe reaction that you're preventing. Clopidogrel is an interesting one. You think about someone going in for PCI or a heart cath.. 

Dr. Fearing: Or getting a stent placed, for example. 

Dr. Dover: Yeah. And a lot of those are elective procedures. If it's not elective and the patient doesn't have the the genetic information on file it's going to be hard to stop and wait to cast someone if they're having an acute event but if it's an elective procedure that they're going in and they may end up having a stent, that's the perfect time for the cardiologist to go ahead and send out the test the patient will be in you know in you know what 48 hours something like that they do all their pre-op testing. Now they have the information so if they do end up stenting them, and they find out that they have this mutation that will make that Clopidogrel less therapeutic, that could ultimately lead to them having a future cardiac event that could have been prevented. Now they can make a different choice with a drug and this patient has a great outcome.

Dr. Fearing: Well, and sadly, that's kind of really what happened in practice, right, you know. So if you had that CYP2C19 mutation, for example, people were poor metabolizers. They never went to the active drug and they got thrombosis and versus another cross section of the population that's like CYP2C19 mutation where they bled out because they metabolize the drug too well. So if you put those two mutations together that's roughly about 30 percent of the population. So what is that, like, one in four of their patients that they're stenting, you know, is gonna have a problem if you put them on that drug. That's pretty frightening when you think about it in that context. 

Jennifer: So, there's one or two more things that I want to ask here. I want to definitely circle back to that ethical piece that you were talking about, Dr. Fearing, a few minutes ago and dig into that at the end of this to flush it out a little bit more. But, Dr. Dover, I guess from your perspective not being from the MEDITECH side - what is so groundbreaking? I know I hear all the time people tell us that the solution that we've developed is really groundbreaking, it's really different, and it's it's going to change the way that clinicians can practice medicine. And I'd like to hear from your opinion why we keep hearing that. 

Dr. Dover: I think it's the audience that you're  serving as far as clinicians and the patient populations. When you look across the country to see who has genomic programs, who has pharmacogenomic programs in their health systems - they tend to be academic medical centers that have invested in it, not all but many. Right, and put that time in with custom decision support and custom lab interfaces - you've taken that work off of them now. You've made it possible for folks to have in their software the ability to interface in the lab information, as well as have decision support already constructed for them. I mean, that is removing some major barriers to implementing that pharmacogenomic information in clinical practice. 

Jennifer: I love that, Dr. Dover. I just, I think... Everybody here knows how important I think that is and how important this data is going to be with transforming the way that clinicians practice medicine in the community space and even further. So I'd like to just go back to something Dr. Fearing was saying to close this out, and that is the patient privacy, confidentiality, ethical pieces. I know Dr. Fearing talked about the law that's out there. I think we've had this data now, this whole genome sequence, for 20 years even though we're learning more and more about some of those promoter regions and other areas that we haven't necessarily fully understood yet. But for a lot of patients out there not in this space, this still seems a little bit like sci-fI to them. It's not necessarily real life that we can understand what differentiates one person from another and that there are actual interactions with drugs and other specific areas for that. And how do we as leaders in this area or people who truly understand it help to get people to understand that there are privacy concerns to socialize it? That this is something that they should be pushing their doctors to look at if they are getting prescribed certain medications and things like that. Where do we go in that space, and is that a responsibility that we have? 

Dr. Fearing: You know, in my clinical experience, the barriers tend not to be the patients. The patients actually have a pretty good understanding and interest in this and are actually pretty savvy consumers and they're interested in knowing why their medicines don't work. It's actually more to the point of getting physicians, and clinicians, and healthcare providers, nurse practitioners, people who are sort of on the front lines of health care, for realizing - I mean they're so busy. They're just so busy, especially in this day and age, that they need it to be easy. And they're still thinking that pharmacogenomics information is the science fiction stuff that just belongs in tertiary care hospitals, but that's not the case. I mean it's permeating everywhere. Like let's say that that rural primary care doc who's got a newly diagnosed patient with hepatitis c - super common, happens all the time. They prescribe. They have to deal with hep c patients frequently. You have to know what the patient's genome is now before you start them on therapy because there are genome targeted treatment therapies now for hepatitis c. Long gone are the days where you just throw interferon alfa at these patients. We have targeted therapy and you have to be savvy to the genetic information. So, it should be easy. It should be easy to manage this and it should just be easy for those folks. How we put protections around that patient information is really up to the EHR - but if you don't think about it, you're not doing it. And I'm happy to say that we're thinking about it at MEDITECH and that's a good thing. 

Jennifer: Yeah. And, Dr. Dover, do you have anything to add to that as well? 

Dr. Dover: I think putting it in the context of why we have to be so careful with the genetic information versus other types of labs is that you know these are not transient values; these stay with you and follow that patient through their care and their lifetime. So I think it's important to think about that. It's not just the information that it can convey, but it's long lasting. And so I think that's important when we think about those privacy components of why we want to protect that information for our patients. 

Dr. Fearing: Right, and people want to access it for not always altruistic reasons. That's, for example, why the Canadian supreme court really said, no one can access this information on the patient. Because, you know, you had employers' healthcare insurance policies wanting to know if they had a disease-conferring mutation, if they were going to have something that was a late onset, you know, xyz. Did they have something that was possibly going to indicate they developed worsening diabetes. There's been sort of some potentially more nefarious, you know, interest levels in people's genetic information, and folks shouldn't be discriminated against. That information should just be used to guide their therapy. 

Jennifer: And it's great to know that the laws are now in place, that can't be done anymore. And I think that patients should be understanding that those laws are in place, they are protected, and I can speak for MEDITECH as an EHR that we are doing everything in our power to think about this in the most ethical setting and light as possible. You know, when do we release results to patients, when do we provide the right guidance, what physicians are able to access the data, all of this is extremely important and needs to be thought about. 

Dr. Fearing: Not to mention, the electronic footprint, right, Jen. I mean we know if anybody's accessing information that they should not and you can put those safeguards into place.  

Jennifer: Exactly. Well, I just would like to thank you, Dr. Fearing and Dr. Dover, for joining today. This has been such an incredibly informative and interesting conversation. I think it affects clinicians and patients alike. It's really going to be absolutely astounding to see what happens in the next five years in this space, never mind 10 years, and I look forward to future conversations maybe in a few years and we can come back and circle back and see where we are now. So thank you so much for joining me today and I look forward to talking in the future.

Dr. Fearing: Thank you. 

Dr. Dover: Thank you for inviting me.

Christine: Thanks for tuning in. Stay informed and subscribe to MEDITECH podcast and be sure to check out our resource page for links from this episode. We'll talk to you next time.