Powered by Giving Conversations: How Genes Affect Your Health



Erin: Welcome to our Powered by Giving Conversation. I am Erin Diehl, your moderator for today, and we are so excited to have two amazing panelists here. Joining us. We were talking today about what genes can tell you about your health before we get started some very quick housekeeping reminders for everyone.

So number one, don't worry. You are not on camera and we won't be able to hear you. So feel free to sit back, relax, put your feet up. We are going to be lots of educational information today, as well as just experiencing this time together. So know if you want to submit questions via the chat, please do so, but know that we do have.

Quite a bit of questions submitted ahead of time. So just know that we will be getting to those first. And if we have time for your queues, we will get to them. So we are recording this event and the foundation will let you know where you can find this recording to view it again later or share with others.

You'll be invited to take a survey about this event. So please give us your feedback so we can continue to bring you more power by giving conversations that meet your interests. So we have all been hearing about the evolution of genetics and terms like personalized medicine or precision medicine in recent years.

And maybe a lot of us have taken home DNA tests like 23andMe, those tests can provide some interesting insights into our heritage, connect us with relatives and maybe help us learn a little bit more about our health. Such as what diet might be best for us. But NorthShore University HealthSystem is ahead of the curve.

Integrating genetic testing into primary care. NorthShore has one of the nation's largest population-based genomics programs clinically based in primary care. Now, what does that mean for you as a patient? We are excited to have two awesome experts here from the program to discuss that. So let me start by welcoming Dr. Nadim Ilbawi, Dr. Ilbawi is a family medicine physician at NorthShore with expertise in obesity and sports medicine, his philosophy of care involves a process or a focus on prevention and counseling with a holistic perspective on treatment. Dr. Ilbawi is a leader in NorthShore's advanced primary care efforts to integrate genetic testing into every day care for patients.

He's earned his medical degree from Northwestern Feinberg School of Medicine and completed his internship and residency at University of Wisconsin, Madison, family medicine. He is board certified in family medicine, and he also serves as clinical assistant professor at the University of Chicago Pritzker School of Medicine.  Welcome Dr. Ilbawi.

Dr. Ilbawi: It's great to be here with Dr. DePersia for this conversation. And thanks to everybody for the questions you submitted in advance.

Erin: Yes. Oh, I can't wait to get to both of our conversations, but let me jump to Dr. Alison DePersia. She is a medical oncologist specializing in clinical cancer genetics at NorthShore's Mark R Neaman Center for Personalized Medicine and is a member of the high risk breast team.

She sees patients for cancer, genetic testing, and provides long-term followup for cancer screening and prevention. Board certified in medical oncology and internal medicine. Dr. DePersia earned her medical degree from New York University School of Medicine and completed a residency and fellowship at the University of Chicago hospital.

She also serves as clinical assistant professor at the University of Chicago Pritzker School of Medicine. Welcome Dr. DePersia.

Dr. DePersia: Thank you, Erin. Pleasure to be here as well.

Erin: Oh, my gosh. I'm so excited. I know what's going to happen. I know the people at home do not, and I can tell you, you were all in for a treat.

These are two fantastic doctors and physicians, and they have so much insight to share. So let's get right into it. Doctor about what I'm going to start with you. Could you give us a general overview of genetic testing in primary care at NorthShore, and perhaps give us some examples of how this has affected patients?

Dr. Ilbawi: Thank you, Erin. Yeah. Before we get into our first slide this is the first question you ask and hopefully the last that I'll kind of dissect a little bit, but I do think the question really has a lot of elements to it that are impressive. And we should reflect on briefly. So, you know Dr. DePersia and I were probably pretty young when the idea of the human genome project was spawned and taken up by the U.S. Government.

But it was about 18 years ago, exactly in April that the human genome project was completed. And the goal obviously was to determine all the base pairs that make up human DNA and the mapping of all of those genes, which was quite an incredible collaborative feat. The other part of your question about talking about this in primary care is really obviously what I'm passionate about, but impressive in that primary care use of focus on genetics through mostly family history discussions.

And now here we are talking about how we're incorporating it into our everyday practices. So really an impressive question and feat that we've taken over the last few decades. And I know that this is going to exponentially change over the next decade as well. So with that Brad, if you don't mind going to our first slide. Here are some examples, I mean, ultimately.

This is exactly why we do the work that we do. And these are real stories for, from patients who have given us permission to share their stories. And in each of these stories is a lot of telling information, but also some things that will address some of the questions that many of you had submitted prior to this conversation.

So. Very briefly Elyse was 27 at the time that she was diagnosed with Lynch Syndrome, which is the most common form of hereditary colorectal cancer. What's interesting about her story is that she had done a consumer-based genetic test that was negative, and really only at her primary care doctors,  asking did she decide to take up this more formal testing, which did indeed show that she had the genes for Lynch Syndrome?

Julie is a patient with that with BRC positive and through her medical grade screening, we were able to find that and preemptive surgery was performed to reduce her risk. And then Sandra is an example of a patient who had no family history. And I think this is an important point to make, because oftentimes we talk about.

I've, I've heard my patients say I don't have a family history, so I'm not really worried about that. In fact, some patients say that to the point where they forgo any kind of screening, whether it's colonoscopy or mammography or, or cervical cancer screening, because they feel they don't have a family history, but in Sandra's case, she was positive for BRCA2

And as a result had bilateral mastectomy to lower her risk of developing breast cancer. Brian's story is, is really very appropriate for discussion on how genetics can help make primary care visits, that much more fruitful with information that we have. So as many of the men in our audience may know that the prostate specific antigen or the PSA is a way that we screen for prostate cancer, but it's controversial somewhat in the fact that it can lead to false positive tests and then unnecessary testings subsequent to that.

Brian is an example of someone who with the right genetic information was able to make a decision that the best course for him was to have surgery. The next patient, Joe has a strong family history of heart disease, and he had genetic testing that really showed that he was at risk for a lipid problem that really required him to be on medication, to reduce his risk of heart attack.

And then finally, we'll, we'll get into this a little bit later, but the concept of pharmacogenomics and testing for this young boy that helped us start him on the right medication.

Erin: This is so interesting Dr. Ilbawi. I appreciate you putting all this together. And I know so many of our viewers at home have had a lot of questions, but I, I think it's interesting to start with a brief history of the evolution.

Of genetics at NorthShore. Can you dive into that a little bit for us? 

Dr. Ilbawi: Absolutely. Thank you. Next slide please, Brad. So I'm very proud that I work in an organization that recognizes the importance of genetics at all facets of life. And we're really trying to work to get this integrated into all of our practices.

So I like the slide, you know, that the arrow is again, exponentially getting larger, which is exactly what we anticipate will happen over the next decade. But we began with this journey with Health Heritage, which was essentially a family history tool. And like I mentioned, very integral to the practice of primary care.

But with the Genomic Health Initiative came a very broad institutional move to incorporate research through consented patient genetic information combined with their electronic health record to really try to tease out how much a particular gene variant may or may not play into a disease process, which is really interesting and on a very, very large scale.

In 2014, the Center for Personalized Medicine was founded and later in 2018, that the name was changed to the Mark R Neaman Center for Personalized Medicine and acknowledgement to his vision and commitment to this. We were the first organization to have a pharmacogenomics clinic. And that is something that we're very proud of.

And then we developed, what many of you who have been patients at NorthShore may have seen, of course, which is the genetic and wellness assessment, which is really a personal and family history tool that segues into a lot of the population screening testing that we are now known for with DNA-1K, DNA-10K.

We'll talk about those in a little bit. And in the future polygenic risk scores. I do want to make a note here, Erin, that this, this kind of journey, this course has really helped us come to a point where we have now partnered with a group called Sema4 an offshoot of Mount Sinai who essentially sought us out because of all of this great work and being able to put this at the population level on such a large scale.

And I also really want to take a brief second to acknowledge all the members of the team who have made this possible and including Dr. Peter Hulick, who is the director for the Mark R. Neaman Center for Personalized Medicine who joined us in 2008 and is also the division head for genetics, Justin Brueck.

Mark Dunnenberger. Dr. Amy Lemke does research. We have a full team of wonderful counselors Christina Herrington, and then our marketing team with Moha Mehta who helps share the information with our patients. So they know about these wonderful services that we provide our patients. So with that we can move on to the next slide.

Erin: Yes, and I want to stop you right there because we can't, it truly is a team effort. And I know you're presenting today, but we want to acknowledge those people and give such great gratitude to them as you did. I want you to tell us too, if you could, a little bit about what advanced primary care means, could you give us a little more insight into that?

Dr. Ilbawi: Yeah, absolutely. This is what I'm most excited about Erin, because. We call it a healthcare system, but in many ways it's a sick care system, right? So our healthcare system puts a lot of resources and money into late stage disease. And as a primary care doctor, my focus and passion of course, is on prevention.

And I see personalized medicine really as a foundation for that prevention. We also know that genetics is something that helps engage our patients in their care and really. A lot of the things that we do on a screening basis are determined by population level data. We don't do this at the level of the individual patient, right?

So when we have recommendations to start screening for colon cancer at age 45 or mammography, age 40, and there's always discrepancies between different committees and groups about what, when we should start that doesn't take the particular patient and individual in mind. And that's why I think advanced primary care really is about the personalized medicine experience, where we get to know the patient in, in totality and have all the elements that allow us to make the best decisions for their care.

Erin: I love it. I love it. So can you give us a little more insight as well about what genes can tell us about our health? I know that was a big question. Also fielded from our viewers. Can you give shed some insight on that?

Dr. Ilbawi: Yeah, absolutely. So we'll go to the next slide two, please. Brad, which I borrowed from Dr. Peter Hulick. I love this analogy. I want to just get into the really, really basic here for, for genetics. The library being the nucleus of the cell. We can go to the next piece here. The book racks serving as the chromosomes, each book being an individual gene. And finally the basis or the gene sequences being the texts in the book.

Really interesting though, to note that there are 3 billion base pairs in the human genome, and that, that only translates into 21,000 genes, believe it or not, which is really surprising. And that when we think about all the books, not every book has. Texts that make sense to us, frankly either it doesn't mean anything or it's something that we have yet to really determine its true meaning.

So when we talk about how genes and what they tell us about our health, oftentimes we think about the things that we know cancer risk. We think about prenatal screening many people now with 23andMe and all of those kinds of services. Think about some of the fun traits like caffeine metabolism or, you know in the case of my wife, she loves cilantro, but her, my mother-in-law doesn't at all.

These are things that genetics can tell us, but ultimately when we're talking about health, we care a lot of course, about risk for cancer risk for heart disease. There's a lot that's out there. That's aspirational, but frankly hasn't really panned out. So for example, the concept of nutrogenomics, I think we had some questions about that.

Really? The idea that certain diets play to certain people, genetics there've been some twin studies that really don't show that that's the case where twins try different diets and the differences. Obviously their genetics was the same, but they had differences that were more based on things like the microbiome sleep stress and other environmental factors.

So, yeah. A lot of things that are out there, a lot of interesting things that are out there in terms of what we can learn from our genes, but real, really at the tip of the iceberg when it comes to what we're learning in general.

Erin: So cool. So, so cool and fascinating. I liked the bit about the cilantro. I'm always fascinated with that fact

it is so neat. Okay. So I also want to talk about the benefits. Genetic testing. Can you tell us a little bit more about the benefits you alluded to them in this last answer, but just a little bit more in detail about the benefits?

Dr. Ilbawi: Yeah, absolutely. And Dr. DePersia is going to talk about the interventional piece of this in terms of how we can work with our genes to, to, to affect therapy. But as a primary care doctor, I'm really focused on prevention. And as I mentioned, when we get some of this information about genes, We're able to really tailor a prevention plan for our patients.

So again, most patients will start colon cancer screening at now 45, but perhaps something about their genetic information will have us start earlier. Same applies to cardiovascular risk, many patients. I really give them the most chance possible to use lifestyle factors to change their risk. And so high cholesterol is an example of that, but if I know their genetics suggests that they're really at a very high risk because of lipid metabolism disorders I'm going to be a little bit quicker to start medication in discussion with them and using that information to really help their care.

And then just for a second here, and I want to be aspirational again. Obviously this last year has been really difficult. And when you think about you we've all seen the different responses to COVID right. I was working in immediate care last March. I had a couple come in. One was breathing really, really hard.

He was a young guy, healthy. His oxygen saturations were in the eighties, his partner, totally fine. Talking through everything, not coughing, not having any trouble reading, both very healthy, both young. So what was it about their immune systems that made it. That one was very sick and the other was not at all.

And this is the kind of information that I think is the best. It will be available to us in the future. In fact, there's something called the COVID-19 host genetics initiative, and that's something that's looking at this information right now. So just a really small example of things that we can learn in the future.

Erin: That is fascinating. I definitely want to hear more about that after this. I know you might have more time at the end for questions, and if anybody wants to know more, we can talk about that. Cause that is fascinating work. I know we have, you know, we have the advantage of seeing an experienced team and having testing performed by clinician.

Can you talk about what is that advantage of seeing an experienced team and then having?

Dr. Ilbawi: Yeah, no, it's a, it's a great question because as we all know, these direct to consumer products are available for everyone to pick up off the shelf. And oftentimes really the, the data is not validated. In, in fact, many might have things around nutrogenomics, for example, that aren't really true.

They are consistent in terms of their accuracy for gene sequences, but how they interpret those results varies a ton. So they may say someone with Whoa, Uncertain gene sequence is a very high risk for something where someone else with a different test may be moderate or low. So anytime we order a test in medicine, we always do it with the thought that it's going to change our management somehow.

And we really need to be asking the right questions. And so. It's essential that this is done in a healthcare system like ours, where we have care pathways, for example, where patients that have a genetic variation are never going to be lost in terms of when screening needs to happen when they need to see their, their oncologist or their gynecologist or their primary care doctor for testing.

So, so that's really key. The other piece is that we're able to tie this into our electronic medical record and through that we're able to have a decision support tools that will tell us, Hey, Don't start this medication on this patient. There's a chance that they may not respond to it or that they may have some pretty bad side effects from it.

So and then finally, of course we have an amazing network of specialists, including Dr. DePersia, who are able to really kind of tease out some of this information for us as we get it because not everything is black and white, as far as genetics goes at all. And, and sometimes we get information that a year later changes and all of a sudden goes from not being significant to significant So I think the team that, that we have here at NorthShore it makes this happen.

We're an integrated system and we've got that whole big picture in mind.

Erin: I love that. And to that point, I want to know what's included in NorthShore's genetics. Test program. Can you tell us a little bit about that?

Dr. Ilbawi: Yeah, absolutely. So, so, so, so this partnership with Sema4 has allowed us to test for roughly 20 conditions, cardiac related.

So things like having familial hypercholesterolemia, certain things that may thicken the heart or conditions that may lead to certain arrhythmias. We also learn about about 20 plus conditions related to cancer risk. Of course, many of the important ones that we talk about and some of which we don't have screening tests for otherwise.

So, so the test is very comprehensive. And our partnership with Sema4 has really allowed us to offer this with coverage, through insurance, if appropriate with a family history. And, and it's, it's really an impressive offering. I just want to make a quick point that some conditions have multiple locations in the genome that affect a condition we're all familiar, familiar with are kind of high school biology teaching of Mendelian inheritance where it's, you know, dominant recessive.

We're talking about one gene mutation, but really when we think about a different disease processes, the majority are going to be dominated by multiple genes that impact that. And that's kind of the redundancy of nature that I think is really beautiful and impressive.

Erin: That is so interesting. What types of conditions are inheritance? Would you say?

Dr. Ilbawi: Yeah. So we've talked about some of the obvious ones, but really everything has a potential genetic condition. And what our question is really is is it going to change our management? If we know that there's a certain variation and ultimately one of the really neat things to me is this concept of epigenetics, which is what turns on certain genes.

What is it about our environment, smoking sun exposure, stress that turns certain genes on and puts us at higher risk for certain things. So when we talk about conditions like Alzheimer's and. Parkinson's disease and arthritis and diabetes. These are all things that really don't have necessarily one gene that is attached to them.

Now, in the case of diabetes, we do test for a condition called maturity onset diabetes of the youth. And that is one gene, but diabetes and polygenic risk scores is really the concept that multiple genes are impacting a certain condition. And really that's the case for many. And we're really again at the tip of the iceberg in terms of learning all this.

Erin: So interesting. And I'm sure this is a question many of our viewers are thinking right now who should have genetic testing.

Dr. Ilbawi: That's a great question. We offer this to patients above 18. I don't think there's a single person that shouldn't have this test done. And I'll tell you why. At the young ages, this is going to change the course of screening and prevention for our patients.

And so you can learn so much from it. As we get older. The value is twofold. One is in the pharmacogenomics piece of this because a lot of our patients are elderly. Patients are on medicines and sometimes we need to know what they should be on and what they shouldn't be on. And then of course, there's the piece of family.

If, if one of our patients learns that they have a condition at age 75 and they've had it their whole life with a certain genetic variation, they're going to share that with their son or daughter. And it may very well impact or save their, their, their child's life. So I, I think really everyone above age 18 is a good candidate for this testing.

Erin: I have a personal story about my own genetic testing and it truly, it altered the course of my son's life. So I will say genetic testing let's do it. Let's do it. I'm a, I'm a, I'm a huge proponent. Candidate myself. So I want to segue to Dr. DePersia You have been still patiently waiting. Thank you so much. And give it, give you a round of applause after Dr. Ilbawi, fantastic.

And site. We're going to come back to you in a moment, but Dr. DePersia, I am just so excited to chat with you. You are an oncologist. Who specializes in caring for high risk breast cancer patients. I would love for you to explain to the viewers at home your role. And also, I know there's a fun story in there about a referral you received from Dr. Ilbawi whose patient underwent genetic testing. And also she learned that she had genes that are associated with breast cancer. So if you can tell us about your role and fold that in that would be awesome. Twofold!

Dr. DePersia: You got it. Thanks Erin. So I, as you said, I'm a medical oncologist focused in cancer, genetics. I run a clinic that focuses in cancer, genetic testing, risk assessment, high-risk screening re risk reduction and prevention options.

And so as Dr. Ilbawi had mentioned, everyone has a risk of cancer. That's why we all do certain screenings. As we get older at certain phases of our lives. However, my goal is really to identify individuals who have an increased stress or unique cancer risks. And try to really personalize their screening and also offer risk reduction options.

And so I've shared numerous patients with Dr. Ilbawi and many of the members of our primary care team who are practicing primary care. And it really has helped to shed light on increased risk that we didn't necessarily know that our patients had. And one young woman comes to mind who. I had gone through genetics with in the DNA10K program found that they carried a high risk gene mutation that's associated with breast cancer risk at the BRCA gene mutation.

And this was really valuable information for her because she didn't have a strong family history. And so that's one area where the idea of population testing, or do you need to, not just based on family history can be really helpful. She had what we call truncated family history. So not as strong cancer history in part, because we didn't know details about some family members.

And didn't have a large family and carrying one of these mutations is not a diagnosis of cancer necessarily. It's not a hundred percent risk, but it's an increased risk. And so sometimes we don't realize that risk is present in the family. And so she came to my clinic after learning about this BRCA mutation and I was able to offer a lot of interventions for her that she wouldn't have necessarily started at her young age. So for specifically high risk breast screening, I do screening for all different types of cancer, but in the high risk breast setting, what we can talk about is starting breast imaging early. So in addition to mammograms, we do breast MRIs for women who have an increased risk of breast cancer.

We also might do breast ultrasound, different based on a specific set of circumstances for women that have mutation. As in this instance, we also talked about the option of risk reducing surgery, recognizing that having a bilateral mastectomy can offer excellent risk reduction. And you also talked about the idea of taking medications to reduce risk.

So there are medications that women with an increased risk can take to reduce their breast cancer risk by about 50%. And so in my clinic, I was able to counsel this woman about how these options start around high risk screening, have her talk to the breast surgeons about the surgical option, and then help her over long term for screening for as long as they might choose to do it, which is a sometimes indefinitely, or sometimes they might choose to move forward with surgery at some point as well.

Erin: Oh, my gosh. Thank you. And I, I will say this, this is so interesting and fascinating on so many levels. The work you do. I want to acknowledge we do. We're hearing some static on your line, Dr. DePersia. . So we're, I don't know if we can do anything about the static, but we hear it everyone. So we are trying, we can still make out what you're saying, but I just want, I don't know if there's anything maybe come closer. We could, we could hear you a little bit.

Dr. DePersia: Yeah, of course.

Erin: That's good.

Yeah, we're going to get. We're getting real close and personal. So I wanted to, as we've mentioned so many people submitted questions ahead of time, which is so fantastic. So thank you to everyone at home who took the time to do this. This was a really a repeat question. We had so many viewers to ask these two questions. So I got two here for you. So viewers are interested in knowing whether as a cancer survivor, their children should undergo genetic testing and then. Twofold as an adult child of a parent who had cancer, should they undergo genetic testing? What are your thoughts on that?

Dr. DePersia: Yeah, so there are, there are a lot of reasons or, or guidelines to say who, who should go undergo genetic testing. That being said, as Dr. Ilbawi had mentioned this idea of really anyone can do cancer genetic testing, but there are certain instances where we're maybe more suspicious for the possibility of an inherited mutation or an inherited risk. That puts someone at increased risk of cancer. So in the instance where there is a parent, who's had a history of cancer.

Typically, if that parent is alive and available for testing, the individual who has a cancer history is going to be the most informative person to test the reason being because of there is an inherited mutation associated with an increased cancer. We would expect that that individual who had the cancer is most likely to carry the mutation.

And so if that parent was to undergo testing and tested positive for an inherited mutation, that would be a reason for the child, adult child to undergo genetic testing for the inherited mutation that was found in the parent or the person who had cancer. Individuals with cancer undergo testing for multiple reasons.

So to inform maybe why they have the cancer diagnosis to inform their additional future cancer risks, to inform their family members risk. And then in some instances, an inherited mutation may also inform sensitivities as far as what treatments they should undergo for their actual cancer diagnosis.

Erin: Oh, that's cool. So cool. Okay. This is actually a very recent question that just came in through the chat. I want to ask, because I think that's a good follow up. How can genetic testing help in identifying mental illness risk and or treatment.

Dr. DePersia: So so as a caveat, my background and focus is in oncology and cancer genetics.

However we do know as Dr. Ilbawi that, that most conditions probably have some underlying genetic etiology in general, with a lot of these conditions, mental health and otherwise, and even in cancer, it may be multifactorial. And so what I would recommend is for anyone who's interested in learning whether the mental health condition may have an underlying genetic ideology.

Is to really start by talking with your mental health professional about what your diagnosis is or what you're dealing with, and whether there is a role for genetic testing, because it may help inform a diagnosis or with our pharmacogenomics offerings, it may help inform drug sensitivities or appropriate medications when might think about for treatment.

Erin: Sure. That's great. And I appreciate you answering that too. Cause I know this is a question we're getting all kinds of questions here and this, I actually have a few people submitted ahead of time to roll off your way.

Dr. DePersia: Of course. And I should have said as well. Along with myself and the Mark R. Neaman Center for Personalized Medicine, we have two other medical doctors, clinicians, and their focus is medical genetics.

So they focus in on cancer genetics, and also a lot of these other conditions that genetic underpinnings as well. 

Erin: So cool. So cool. Well, here's another one for you that was submitted ahead of time. So is radical surgery necessary to prevent cancer if I have a strong genetic predisposition?

Dr. DePersia: Sure. So I think number one, the most important thing, just to emphasize that I mentioned before is that if we find an inherited mutation that's associated with increased cancer risk in general, except for rare exceptions it's not a hundred percent risk and it's, it's not a diagnosis of cancer. It's just telling us that you have an elevated risk and there are actionable steps we can take to either detect cancer early, reduce your risk, or even eliminate that cancer.

And so there are rare instances where we do recommend a surgery for prevention. For most of the diagnoses that I make as far as cancer risk, it's really about increased screening, but there are instances where screening just isn't adequate, or we don't have good screening for a specific type of cancer where we might recommend surgery.

Example that I deal with a lot in my practice is increased risk of ovarian cancer. So for example, going back to that, that woman that I mentioned to miss sound, to have a BRC mutation or BRCA mutation, there is an elevated risk of ovarian cancer for BRC mutation carriers. And we don't have that screening for ovarian cancer at this point.

And so while we might do screening for some period of time we do talk about various reducing surgery in a woman once her. The risk of ovarian cancer reaches a certain level where the benefits of surgery really outweigh the risks of surgery. So, and there are a few other examples in my practice where there just isn't a fit between the option.

And so we would recommend potentially, or a surgical prevention. It's always a patient's decision, but that may be the recommendation.

Erin: So interesting. I did just get another question in the chat that I'm going to throw to Dr. Ilbawi here. So let me ask you this. Does insurance cover this test?

Dr. Ilbawi: Very good question.

So yes, in, if there's a positive family history, the insurance in about 90% of the cases are it's going to cover the testing that we're offering through Sema4. So our hereditary cancer panel offering through the genetic and wellness assessment questions that our patients will answer ahead of time will then qualify them in the workflows in place for that conversation to take place with the insurance company.

And again, in nine out of 10 times called for that.

Erin: So interesting. Okay. Great questions coming in from the chat. So thank you so much. We're trying to get to as many as we can, and we had so many submitted ahead of time. So I do have a couple more here. And I'm going to stick with you, Dr. Ilbawi for just a second.

So let me ask you this. Where does lifestyle come into play?

Dr. Ilbawi: Oh, I'm sure Dr. DePersia would have a lot to say about this as well, but a lot. We, we definitely know that certain genes can be turned on based on someone's lifestyle. Right? So stress, lack of sleep obesity. We know to be a risk factor. For cancer.

So, so really lifestyle is key and that's the piece that is in our control, right? The genetics piece is not in our control, but that's why we counsel so much on lifestyle. And that's why, especially as a primary care doctor, when I get this information about a patient, I really do hone in on I'm making the changes that are possible and within their control.

Erin: Love it. And Dr. DePersia do you have anything you want to add here? Cause this is your wheelhouse.

Dr. DePersia: Yeah, no, I agree. I typically have three basic recommendations for, for all patients elevated cancer risk or not. One is with regard to lifestyle is having a healthy weight, healthy BMI, regular active lifestyle, and healthy well-balanced diet.

Avoiding excessive alcohol consumption and avoiding all tobacco use. Those are sort of my three things that I talk about with all of my patients.

Erin: I love it. Okay. So I have one more question here. And we alluded to it, but I just want to clarify, and I'm going to go with Dr. Ilbawi on this one one more time and then come back to, cause on here, both have this little ping pong effect is nice.

So is genetic testing for everyone or just for those who have high risk profiles?

Dr. Ilbawi: No, I definitely everyone as we've mentioned earlier. And I think that, that the case we had shared with Sandra's situation before a patient who had a gene that is very high risk for cancer to develop but had no family history.

So if we, if we rely on family history alone I think we really miss out on some of these

Erin: Agreed, agreed Dr. DePersia. What are your thoughts?

Dr. DePersia: I agree entirely. I think that some of some of the reason that genetic testing was previously offered for a specific patients is, is historic in the sense that initially genetic testing was expensive, it was time consuming. It was a limited resource. And we really had to, as a medical community, identify patients who are at the highest risk or highest likelihood of carrying a genetic mutation and make sure that we were able to offer them genetic testing. But now the technology has just progressed so much that we can test faster at a more reasonable cost and there's more providers who can do it.

And so it really isn't the lack of resources availability, I think it's very reasonable for any patients who avail themselves of genetic testing. It may not be for everyone. And I think know, talk with your doctor about what information might learn. What's actionable that you can do about that, what you learn and then decide if that's something you want to move forward is totally reasonable.

Dr. Ilbawi: Dr. DePersia,I want to just kind of emphasize the point you just made, which I think is a really good one, which is that what we test is actionable, right? So a lot of people are of course, worried, anxious, appropriately. So to receive a result that really doesn't give them anything they can do about and I think your point is a really good one, that this is all actionable. We know how to change our prevention, tactics and our screening based on what these results show.

Erin: So interesting. Okay. I have, I have more questions here, so I'm just going to keep firing away. I'm going to go to Dr. Ilbawi again. So aside from telling us about a gene we might have, that is linked to cancer or another disease, genetic screening can provide information about how a certain type of medication might work for a specific patient and you kind of talk, hit the tiny little detail on this earlier, but can you tell us more in depth about that?

Dr. Ilbawi: Yeah, absolutely. Erin, this is, this is really neat. I'll just start by saying we did our genetic testing for the population level with DNA10K. We found 98% of people had an actionable result. So again, getting back to that actionable where a result gives us something that we can, we can do something about in the future, but the concept of pharmacogenomics is, is a really important one.

And that's that we through our genetics are able to learn how we might anticipate we would metabolize a certain medication, whether we would expect it to be ineffective or have side effects. And so this has implications that are really, really important for our health. I think one that maybe most people are ...most commonly aware of is the depression medication.

So the SSRI, for example, so many of you may know that these medications usually take four to six weeks to really see if we have a benefit or an effect. And oftentimes we have titrate those medications later on. And before we get to the patient to a therapeutic level, we may have realized that that might not have been the right medication for them in the first place.

So now we're talking about months of distress. If the medication wasn't the right medication. So I find this to be a really helpful tool in, in my practice. One that's a little bit more along the specialty practice line is for patients who have had a stent placed. So patients who have a stent placed are at an increased risk of that clotting off and then causing very serious complications.

So we start these patients on two kinds of blood thinners, one called Plavix, which many of you have probably seen commercials about. But if a patient has a certain kind of genetic makeup that causes that medication to slowly metabolize, it decreases what's called the bioactivation meaning that that medication will not be effective and unfortunately can lead to some pretty serious consequence.

Erin: Oh, so interesting. I wanna kind of shift here a little bit because as you know, the title of this discussion starts with powered by giving. So can you tell us a little bit about how donors have made genetic testing possible?

Dr. Ilbawi: Yeah. So, so the, the Transformation Through Innovation Fund and donations from this group really was the catalyst for implementing a population level project, not only to operationalize it, but to offer it to our first 10,000 patients free of charge. Allowed us to learn so much about the process to iterate, to see if our patients wanted this and felt that it was important to them, but also for us to be able to put into practice some really important clinical decisions. So this, this really was a very, very helpful again, catalyst for us to do this project with DNA10K.

Erin: So cool. So what is the future? And this could be for either of you, whoever wants to jump in. Okay. Pick what does the future hold for personalized medicine?

Dr. DePersia: So I could start with, you know, there's definitely a lot of innovation in the field. And for me personally, my cancer genetics practice, I think one thing that's of interest and really maybe the next thing we're going to be looking at in patients is this idea of polygenic risk score, which I think. Dr. Ilbawi had, had mentioned at one point. So when we do our genetic testing right now in the cancer sector, and in some of these other tests we're talking about, we're looking for a mutation in a specific gene that might significantly change one cancer risk, but we know is there other aspects of our genetics that can modify risks.

And so there are these things called snips or single nucleotide polymorphisms. And what we know is that in any individual, these are small changes in our genetics. And so individually they don't have a large impact necessarily, but if you look at many small changes, combined that can also inform cancer risk. And so I think the next thing in my field certainly will be probably more of these polygenic risk scores, which also can help identify individuals who are at elevated risk of cancer and might even modify one's risk if they carry like a BRCA or a specific mutation use this PRS or polygenic  risks scores, further clarify what their risks may be, so that we can personalize a screening even more, or maybe understand more who should really do the risks action versus screening or things of that nature.

Erin: So interesting. Do you, sorry. Do you hear me? Sorry. I feel like we had a little overlay there. Do you want to follow up on that or do you...

Dr. Ilbawi: Yeah, just really briefly. No, I agree. A hundred percent in primary care a lot of that focus will be on things like diabetes and risk for diabetes through polygenic risk scores. Of course the even more so in the future is, is, is, is therapeutics. And already there's been some really, really impressive work that's been done. I do want to mention one because it's really recent for me. I, I was able to virtually attend a conference the American Medical Group Association hosted this week and actually is ending today. But anyway, Peter Diamandis, who's the X Prize founder shared a nature article that mentioned that they're able to essentially turn genes on through epigenetics and, and help reset optical nerve cells to reverse age-related vision loss. I mean, it's unbelievable stuff that's happening. And, and again, it's exponential. This is something that you know, five years ago, probably we thought would have been impossible. And, and it's probably within within our reach in, in, in the near future. Well, not near future, but in the future, I should say very interesting stuff.

Erin: Yeah. As a person who's worn contacts her entire life that's very interesting. This is so interesting. And I also, I wanted to address one thing that came up in the chat really quick. So the privacy concerns, so patient concerns about privacy with their genetic information. Can you either.  Go Dr. DePersia, can you address you?

Dr. DePersia: Got it. So this is something that comes up a lot because I do offer genetic testing in my clinic as well. And so there was an act passed, a law in 2008 called GINA, Genetic Information Nondiscrimination Act. There are protections against so that one can't be discriminated against on health insurance in that perspective from, with genetic information. However, at this point, GINA doesn't cover life insurance long-term care long-term disability insurance. And so what we tell all patients is always as part of the informed consent process, we do talk about this idea and make sure that patients are aware so they can make the best informed choice for themselves. And there actually is a really nice video that was put together by the team of medicine going through GINA on the website. So it's something that you can certainly Google and read about, but if you wanted more education, there's actually a really nice video that was created by the team.

Erin: Awesome. Thank you for addressing that. I know that was a concern that a couple of people have brought up, but I want to segue now to a few more users submitted questions. We had so many people ahead of this, this panel sending questions. So we have so many, and we put them together as almost a summary because a lot of them were very similar in nature.

So here are some of the most common in general questions that we wanted to make sure we touched upon today. And hopefully if you're at home, you get your question answered if you submitted it ahead of time. So I think we covered this, but will my health insurance be impacted by genetic testing if it's determined, I carry a gene linked to disease?

What privacy implications are there and what policies are in place? I feel like we sort of, we sort of alluded to that. We got to covered, we got to covered friends. Okay. So genetic testing is so important to protect one health one's health. Why isn't it covered by insurance when we can, when can we expect insurance to cover the cost of genetic testing?

Dr. DePersia: So I certainly can, can touch on this. So I think. I think some of the coverage issues are really historic in nature. And the indications for genetic testing, certainly over my brief career thus far have really expanded and are continuing to expand. And so this point that in the cancer setting, there are specific specific family histories or personal histories where genetic testing is indicated and various medical bodies, the National Comprehensive Cancer Network or NCCN is the name of the guideline that insurance will use to determine eligibility. But even if someone doesn't meet criteria for genetic testing, then maybe it's not covered. At this point there really are a lot of ways to get genetic testing for reasonable reasonable costs. Historically testing was very expensive in the thousands of dollars and there may still be settings for specific tests where that's the case, but at least in the cancer setting, there are numerous and well-regarded labs, Sema4 being one of them there, if you can't get it through insurance or it's not covered, it can be done for a very reasonable out-of-pocket.

Dr. Ilbawi: Yeah, I would, I would also maybe take a slightly, partly cynical view on this as well, but insurance companies tend to lag medical science, right? So we know that for example, dense breast tissue sometimes requires ultrasound for mammography. Following mammography and insurance companies have been really slow to follow that. Unfortunately that the sciences. Pretty overwhelming. The evidence is there that it should be covered and they consider it a diagnostic test when indeed it's a screening test. So there's a lot about insurance companies where I think they'll drag their feet a bit to avoid having to pay for things until it's very clear that society wants it. So it's a great question though.

Erin: So such a great question. And I know we've, we've gotten several insurance related questions in the chat, so. Thanks everyone for that. Hopefully that helps answer all of your q's. I have another one here from the viewer who submitted prior to this is sort of subjective, but I'm very curious to hear your answers.

Has anyone ever regretted undergoing genetic testing?

Dr. Ilbawi: I if you don't mind, Dr. DePersia just I'll start with this one, but I, you know, no doubt. Anytime we do a test, there, there is a level of anxiety. I mean, sometimes even a simple blood test for a routine physical. I have patients who don't want their blood checked because they're scared it might show something. And so many of us have this kind of ignorance is bliss feeling where if we're not looking for something, it means we're fine. You know, absolutely everyone has a different comfort level with this, but what we've seen in the research that Dr. Amy Lemke has done in kind of following up with our patients who have had genetic testing is that the overwhelming majority are very satisfied with the fact that they proceeded with getting the testing.

And for those that were anxious or upset about it over time, they came to also appreciate that they had the testing done. So I think like any test we have to be, informed and educated. They didn't have good questions with physicians about what the test may show us. So that way we know what we might want to do with the result.

Erin: Love it. Dr. DePersia, anything you want to add.

Dr. DePersia: I think Dr. Ilbawi covered everything on that one.

Erin: Subjective, subjective, but so interesting. Okay. Here's another one. Why a blood test and not a saliva swab test? What is the advantage?

Dr. DePersia: I'm happy to answer this one. So in fact, we, we can do testing by blood or saliva. It's really a matter of being able to extract DNA that is going to be our germline DNA. So really it's going to represent our genetics that we were born with that It's part of every part of our body. Historically we did a lot more blood testing, but actually during the pandemic and in a time where patients, maybe aren't coming into medical facilities as much, it really has transitioned things so that we're doing more saliva based testing. There's actually other ways that we can, it's not clinically used, but there are other ways one can actually do this type of testing with like hair, things like that. So the standards historically has been a blood testing, but saliva testing and also is, can be an option.

Erin: So interesting. Yeah. I am fascinated by science and the, the DNA. Cause as I mentioned on a personal note, we did a, I had my family do DNA tests with saliva, like my parents and my husband's parents. And. It was fascinating. It's, it's such a fascinating journey and I'm so grateful to everyone in the scientific field who has made this possible in the health field. So I have a, this was a question, but I genuinely, whoever submitted this, I am here with you, so curious on this, should or could children undergo genetic testing.

Dr. Ilbawi: Go ahead, Dr. DePersia, if you'd like,

Dr. DePersia:  Well, I can speak to my practice in cancer genetics, and they, it as a general rule, what we think about with children is really only testing for conditions that are going to be relevant. Then in there as children. And so for most of the testing, I do the cancer genetics. Most of these genes are associated with adult onset cancer risk. And so generally we offer our testing for individuals who are 18 years and older so that they are consenting adults making decision to learn about this increased risk. And also because most of the screening I implement wouldn't be something that starts until they're maybe in her twenties or thirties or forties.

So really allowing them time to make a thoughful decision and know what they're embarking on when they do do genetic testing.

Erin: Interesting. Yeah. Dr. Ilbawi, anything you want to add?

Dr. Ilbawi: No, no, that's exactly spot on. I, for, for some children, obviously there are some conditions like Dr. DePersia said where we'd want to know earlier like hypertrophic cardiomyopathy, where the heart's enlarged and there are other tests around that as well, not necessarily going just straight to genetic testing. So yes, there are certain conditions where we'll want to know at that age, but otherwise definitely would defer to adults.

Erin: Okay, good to know. Good to know, asking for a friend, but I'm also that friend. Okay. So can I undergo a genetic testing, if my primary care physician is not on staff at NorthShore?

Dr. Ilbawi: So we can refer our patients to the center for medical genetics. We really like to have our patients, in house, so to speak so that we were able to kind of integrate our, our, our EMR our, our care pathways, all of our specialists. And so for us, it's really important that we offer again, there, there are tests out there, but without the appropriate backing support specialists tools it really can either be dangerous or not super helpful.

Erin: Same, Dr. DePersia?  Ditto? Love it. It. So is there anything as we conclude today that you want to sum up or just any, any last words that ...we'll go to Dr. Ilbawi and then we'll go to Dr. DePersia,  that would just sum up today and what you want viewers to take away. I'll go with you Dr. Ilbawi, first.

Dr. Ilbawi: Yeah, I, you know, honestly it comes back to this concept of personalized, not personalized just in the, in the point of what your medical care is, but we're a large healthcare organization, and I think the more a patient feels like they're not just another patient, but they are a unique set of obviously everything, including their genetics. That's really key because that's how primary care should be. It's about the relationship. It's about knowing a person in their kind of whole holistic approach to that individual, and genetics is a piece of that personalized medicine that allows us to understand that individual better. So I'm really excited to be a part of this team. I'm thankful for the opportunity and appreciate the conversation today.

Erin: Wow. So, so grateful for your conversation, Dr. DePersia, coming to you.

Dr. DePersia: So like Dr. Ilbawi that I think the, this idea of precise medicine to benefit the individual patient, but also just showing you how much our healthcare system is really investing in our patients is so meaningful. And I think my practice is a great example of that. I mean, in other fields as well in cardiology and in other fields where we do genetic testing, NorthShore has really made a point to bring specialists on board so that we're not just learning about these increased risks, personalizing their their risk of cancer or risk of disease, but also offering a team that can really take action on that information, whether it's screening prevention we have great support and a follow-up for everything that we're learning through these personalized medicine initiatives.

Erin: Yeah. So cool. Grateful to hear  from both of you today and to our viewers at home. I know there was some questions that we didn't get to, but we are just so grateful that you took the time to join us. I want to thank you both again for being here for your wisdom, for your expertise. And I want to thank everyone at home for listening. Also want to follow up there will be a survey. So please make sure to fill that out viewers, just so we can make the next Powered by Giving Conversation as impactful as possible. And I also just want to remind everyone how critical philanthropy is in driving innovation. Like the ones that we discussed today. So the Foundation just so, you know, we'll be in touch soon to invite you all to our next Powered by Giving Conversation in personalized medicine. I am Erin. I am so grateful. I had this opportunity to chat with two expert panelists here today and physicians. So thank you again for your time. Thanks to everyone at home.

Enjoy the rest of your Thursday.

Dr. Ilbawi: Thank you.

Dr. DePersia: Thank you.


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