It’s in Our Genes: Possibilities with Precision Medicine

Pharmacogenomics is a branch of precision medicine that allows providers to understand which medications and doses will work best for a patient based on genetic tests. Roseann Donnelly, PharmD, FCCP, BCPS, explains why more healthcare providers should be educated in precision medicine to make better, more personalized decisions. 

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Welcome to Massachusetts College of Pharmacy and Health Sciences Podcast, the Secret to Living to 200. My name is Jennifer Persons and I'm your host. In each episode of this series, we will explore different aspects of health and the factors that allow us to live longer, healthier lives with the help of a thought leader from the university. MCPHS is 200 years old, and what better way to celebrate our bicentennial than with a podcast about longevity and wellbeing? Joining me today is Dr. Roseann Donnelly. She is associate professor of pharmacy practice in the School of Pharmacy Boston, and faculty coordinator for the Precision Medicine graduate certificate through the School of Professional Studies. Welcome. Thank you so much for having me today. Thank. You for joining us. Before we dive into our conversation, we are going to start with an icebreaker. So my question for you is, if you had a time machine and could travel 200 years into the future or 200 years into the past, which would you pick and why? What a great question. Yeah, I think I would have to go 200 years in the future. Just being in this space of genomic medicine right now, there's been so many advances. I feel like we are just seeing the beginnings of this, so I would love to see in 200 years how far we have come in this field. So you mentioned our topic a bit, but before we really dive into it, could you just introduce yourself, tell us about your career and how you arrived at M-C-P-H-S? Absolutely, happy to. So in terms of my educational background, I completed my undergraduate degrees in chemistry and biochemistry at Worcester Polytechnic Institute, WPI in Worcester, Massachusetts. And then I went on to complete my doctor of pharmacy degree at MCPHS on our Worcester campus. So I completed the three year accelerated pharm D program there and then went on to pursue residency training within pharmacy. And so this is for pharmacists who want to gain more clinical skills. And so first I completed a general pharmacy practice of North Carolina Medical Center in Chapel Hill, North Carolina. And then I went on to pursue a specialty residency in clinical pharmacogenomics at St. Jude Children's Research Hospital in Memphis, Tennessee. And after that I moved back to Massachusetts to fortunate to join the faculty at MCPHS Boston after that. And I'm coming up to about eight years now on the faculty here at MCPHS Boston. That's amazing. When you were a student, did you ever think that you would come back as faculty someday? That was always my hope, yes. It was always in the back of my mind. I really wanted to be a faculty member and being at MCPHS was definitely a dream. And do you have a clinical practice in addition to your faculty duties here at MCPHS? Yes, I do. Yeah. So about five years ago I started the pharmacogenomics clinic at Brigham and Women's Hospital in Boston, which is one of the very first of its kind. And I work in collaboration with a physician and a genetic counselor. And so we see patients for pharmacogenomic testing. We have a two visit model where in the first visit we are learning about what brings the patient in to see us, what are their goals around what pharmacogenomic testing, what are the benefits limitations, the cost of testing, setting realistic expectations about what the testing can and cannot do, and if they choose to proceed with testing to order that test for them and then bring them back for a second visit where we explain the results to them and explain how the results may help inform why they've maybe had adverse reactions to medications in the past and how the information could be helpful for their current medication regimen or potential future therapy. So pharmacogenomics is the study of how our genes influence drug response. So essentially it's the combination of the fields of pharmacology, the study of drugs and genomics, the study of genes and their functions. And pharmacogenomics is really at the intersection of those two areas. And essentially why this is important is because we know in medicine that one size does not fit all. And we know that if we give the same medicine at the same dose to a group of people with the same diagnosis, we can expect to see different responses. We know that some people may have a benefit from that medicine at that dose, we hope that's most people, but we also know that realistically there's going to be a subset of people who are not going to get any benefit from that same medicine at that same dose, and still others who may experience severe or even life-threatening adverse events from that, again, that same medicine at that same dose. And so pharmacogenomics is trying to explore is there a genetic reason why we see this individual variability in drug response? And if we have that information upfront, can we use that to personalize someone's medication selection and dosing in order to maximize the chance that a drug will work well for somebody and minimize the chance of those adverse reactions. Can you. Give some examples of some of the patients you have seen who are good candidates for pharmacogenomic testing? Yeah, that's a great question. So honestly, we see anybody and everybody who's interested in this space, so we don't have any restrictions on who we see and who will test for pharmacogenomic testing. This is really a unique area where anybody could theoretically benefit. We know from studies that 99% of people when they get tested for a pharmacogenomics panel of different genes that affect medication response, 99% of people will have at least one positive result come back. That could affect at least one if not more medications. So we have patients who come to us who may have experienced a lot of trial and error with medications, have had a lot of adverse reactions or med failures, and they're kind of wanting to look for maybe an explanation as to why they've that and give their doctors additional information they can use moving forward to hopefully prevent those issues in the future. We also see people who are generally healthy and maybe don't have any medications that they're taking currently, but they've heard of this area and want to be proactive about their health and just get this upfront so that in the future when they do need a medicine, their doctors already have access to this information. We also see people who may be wanting to start a new medicine like for depression for instance, and are maybe nervous about the side effects that could happen and we can do some pharmacogenomic testing that may help doctors narrow down to which antidepressants could potentially work better for somebody or at what doses. It's certainly not the magic answer for all medication related problems, and we definitely have to really educate our patients about that, but it is an additional tool in our clinical toolbox. Would you say that this is still an emerging. Field? I think it is definitely an emerging field. As I mentioned before, my pharmacogenomics clinic is only one of a handful in the country right now. I think as we move forward, we are seeing more and more places kind of developing pharmacogenomics clinical services and investing resources into that. A lot of times that as kind of concentrated at academic now, but it is sort of branching out into more community health centers in some cases. And even within the community pharmacy setting, I've seen examples of independent community pharmacies types of services for patients as well. So it really can apply across a variety of different health system settings. Wow. Can you explain what precision medicine is and how it relates to what we've been talking about? Precision medicine is an umbrella term and it's defined as an emerging approach for disease treatment and prevention that takes variability in one's biology like our genes as well as environment and lifestyle for each person. So pharmacogenomics is kind of underneath precision medicine. So put simply, it's really tailoring healthcare to you as an individual and by doing that, we are hoping to maximize the chance of a favorable health outcome for you. So you're not just the average person, everybody is unique, has a unique circumstance, has unique biology and genetics. How can we incorporate more of that into our everyday medical practice instead of using a one size fits all approach? Right now the US federal government is funding a really major precision medicine study called the All of Us Research Program, which some people may have heard of or even enrolled in themselves, but they are looking to recruit 1 million people from diverse backgrounds from across the United States in this precision medicine study and they're doing genetic testing and they're getting electronic health record data and survey data and basically putting this all into this big database where researchers can go and explore that information and learn more about how all of these different factors influence health and how we can better prevent disease and treat disease, taking into account all of these individual factors one. Another. And you mentioned in your clinic at Brigham and Women's, you work with other providers. So can you talk about what kinds of providers should learn about precision medicine and study some of these emerging technologies and practices? Absolutely. From a pharmacogenomic standpoint, I think any healthcare provider who's prescribing medications really should get up to speed on pharmacogenomics. It is tough, and this is a gap in the field where we do need more education of healthcare professionals in this space. It's something that's really on the cutting edge and just coming out now, so many healthcare professionals didn't have this education when they went to school or they went to residency training. And so really need to do a lot of continuing education because we have the research, the data is there now we just need to take it that one last step, how do we actually get this to the patient? And that really does start with education. Absolutely. Can you talk about just the results you've seen from doing some of this work and how the patients are responding to it? Patients are definitely very interested in this space and really the value of this type of testing can be looked at in a few different ways. One is kind of looking backwards and saying, can our results help explain against somebody's history of adverse reactions? And I've had many patients come to me saying, I'm the one who's really sensitive to medications. I get all the rare reactions. Sometimes they say, my doctors are telling me it's all in my head or I'm just overreacting. And then when we do find a pharmacogenomic test result, that does explain that, that's extremely validating for patients and they see a lot of value in getting that information. And then we also see value, again with patients maybe needing to start on a new medication and getting information that helps inform that treatment choice and they feel maybe more comfortable starting that medication once they know, okay, I have my genetic information, my doctors are picking this medicine and this dose. Based on that, I can feel confident moving forward now with this prescription because in many cases, patients, again, with this history of adverse reactions, they're very fearful of taking anything else in the future because of those past experiences, which is completely understandable. Then the third area where we find value and that patients really appreciate is that we are getting information back that maybe is not relevant today but could be relevant in the future. Sure. So we do a broad panel of genes that affect medications across a variety of different therapeutic areas. And so maybe in 10 years if the patient develops cancer, say we might have information now that would be helpful for preventing severe toxicities from chemotherapy that they might need. So that's really where this information is very powerful and can be very cost effective. We do the test today and it's relevant throughout the patient's lifetime, and so that's unlike other lab tests that maybe are only relevant for a short window of time. Should people be more aware of their genetics are telling them and what they mean. For. Me, knowledge is power, and at the same time I also believe in the patient's right to choose. So I think it's a personal decision. Some people, if they're given the option, definitely want to know everything. I do want to know if I have a increased risk of cancer or some other genetic disease in the future, like Huntington's for instance, and so I can plan and take the appropriate steps. Other people might say, you know what? I don't want to know if I'm at increased risk of certain diseases, especially if we can't do anything about it at this time, and that's because it's going to cause so much psychological distress. So I think the biggest thing is making sure patients know what is available out there, what are the benefits and maybe the downsides of doing this type of testing, what are the risks? And then they can make an informed decision about health. But in general, I think if more people did have this information, again, it can be very powerful in helping to prevent disease and helping with treatment moving forward. I think a really great example from pop culture is that about 10 years ago, Angelina Jolie had a double mastectomy when she found out she was at a high risk of breast cancer. So that helped bring awareness to the power of this type of information as. Well. And now all breast cancer patients are genetically tested to see if their children could be affected. It's become a very normal practice. Exactly. So where do you see precision medicine and pharmacogenomics in 10 years or where do you hope it will be? Yeah, I definitely hope we see well with increased education of healthcare professionals, we see this more integrated into routine medical practice and people are more comfortable with it. I would love to see a time where precision medicine is no longer a term, it's just medicine. It's just how we do things. It just becomes the standard of care. And again, with going back to that all of us research program, I think we're just at the beginning stages of that. So I'd love to see in 10 years what discoveries are coming out of that and how we're able to translate those into the clinic in order to help improve patient. Care. Thank you so much, Roseann for this conversation. I enjoyed it and I hope our audience learned something. Thank. You. We've come to the part of our show called Red's Rapid Fire. I'm going to ask you a short series of questions and the goal is to answer them as quickly as possible. So are you ready? I'm ready. Are you an early riser or a night owl? Early riser. Coffee or tea? Neither actually. What is your favorite season fall? If you could travel anywhere in the world right now, where would you go? Anywhere with my husband, but we'll say Greece. What's one thing you could talk about all day? Pharmacogenomics. Name another language that you wish you could speak. Arabic. Who is your personal hero? My mom. And what is one piece of advice that you would give your younger self? I would say slow down and enjoy the present moment. Thanks again, Roseanne. And thank you for listening to this episode of The Secret to Living to 200. We hope you'll join us next time. And as always, stay curious. Cardinals.