Ask Us Anything About… Ethics of Genomic Research

Description – The video begins inside an office at Penn State College of Medicine. Inside the office are a bunch of personal items on shelves with two people standing in front of a window with blinds opened behind them and they are looking at the camera. From left to right is, Dr. Jennifer McCormick and Scott Gilbert.

Scott Gilbert – From Penn State Health and Penn State College of Medicine, this is Ask Us Anything About the Ethics of Genomic Research. I’m Scott Gilbert. Well, historically medical treatments have been based on research studying broad groups of people but the thinking has evolved as we now realize that due to our genetics and our biology, treatments that work best for one person may not work that well for another. Enter the study of genetics and genomics and here to explain the difference and to talk about the subject in some more depth today is Dr. Jennifer McCormick, she’s an Associate Professor of Humanities and a research ethics and policy expert here at Penn State College of Medicine. Dr. McCormick, thanks so much for your time today.

Dr. Jennifer McCormick – Thank you.

Scott Gilbert – You know, I made a reference in the introduction there to both genetics and genomics and there might be people thinking aren’t they same thing. Could you kind of briefly explain the difference for us?

Dr. Jennifer McCormick – Sure. So when we think about genetics we’re really thinking about studying an individual gene or just a few genes and then when we’re thinking about genomics we’re thinking about the entire genome or sometimes it’s used to refer to large chunks of genome. We’ve really been doing genetic research for quite some time, studying individual genes, their sequence, what they do, what diseases they might cause. But genomics has really kind of taken on because of our ability to sequence large amounts of DNA and, you know, capture it and do some sequencing analysis fairly quickly.

Scott Gilbert – So it involves taking a much broader look at somebody’s makeup?

Dr. Jennifer McCormick – Exactly. And in principle, we can look at the entire, all the genes, the entire sequence of anyone’s genome. That’s what whole genome sequencing refers to.

Scott Gilbert – So then why is this, first of all, for you as a researcher and ethicist, why is this exciting?

Dr. Jennifer McCormick – So as, so let’s kind of take that question in two parts. So as a biologist or a biomedical research scientist, it’s really exciting because we’re really able to kind of look at some of the fundamental molecules that help tell our body what to do and how to create different proteins and other molecules in our body. So we’re basically looking at the code that makes us who we are. If we’re sequencing another organism we’re looking at that organism’s code. And so it just opens up a whole new set of pathways for studying gene interactions with environment, associations with diseases, and, like I said, just really kind of understanding what it means, you know, how we get to be who we are. From an ethics point of view, so wearing my ethics, ethicist’s hat, it’s exciting but it’s a little daunting and it’s a little, you know, there are some things in there that raise people like myself, we get concerned. I have a mentor who likes to say we’re professional worry warts when it comes to genomics. And so because there’s so much information coming out and we’re pushing forward into a new domain of science, there are all sorts of different ethical challenges that come up that I think we’ll be talking about later, like privacy, confidentiality-

Scott Gilbert – Sure.

Dr. Jennifer McCormick – discrimination, who has access to data, you know return of results, all sorts of different things.

Scott Gilbert – So the bottom line is, this information can be used among other ways to determine, I guess, who is most susceptible to a disease. Maybe I’m more susceptible to something than you are, but also how the disease may be treated in me versus you and a bunch of other factors, right?

Dr. Jennifer McCormick – Exactly, exactly. And so, you know, there’s a lot about disease we can understand but kind of just going back there’s a lot about normal function that we can understand too. So in both ways it’s very exciting.

Scott Gilbert – You’re watching Ask Us Anything About the Ethics of Genomic Research. This is Dr. Jennifer McCormick. She is an Associate Professor of Humanities and also a research ethics and policy expert here at Penn State College of Medicine. We welcome your questions for Dr. McCormick. Just add them to the comment field below this Facebook post. Whether you’re watching this Facebook post live or this video live or if you’re watching it on playback we’ll track down some answers for you. Let’s talk a little bit about Bio banking, it’s also referred to maybe as a Bio repository. One example of that is right here on this campus, the Penn State Institute for Personalized Medicine. And there are obviously many people who have already become a part of that by donating samples. And can you talk about that process and kind of what it involves for any Bio bank, really, in terms of what is asked of patients or, I should say, what is asked of subjects to get involved.

Dr. Jennifer McCormick – Sure. So in terms of Bio banking, basically, you’re creating a, I like to think of it as a piece of research infrastructure. It’s not really designed for a specific study usually but we’re creating what researchers are doing and institutions are doing, is it that they’re collecting large amounts of Bio specimens or samples so that they can extract the DNA and study the DNA but they’re also asking anyone who participates in a Bio bank, they’re also asking that individual to allow the researchers to have access to their medical information. So there’s, of course, all of this is de-identified when it’s used so no one knows whose DNA and whose medical records are being used except for, you know, the person who runs the Bio bank, the honest broker, and then sometimes some Bio banks actually collect lifestyle information, so questionnaires. So you have a whole set of different types of data. You have DNA data, you have medical record data, and then you have lifestyle and behavioral data. And so doing, so whenever a researcher might, a researcher might have a question about a certain disease, wanting to say well is this type of person, is there, you know, if they have this in their medical record, this particular disease that they’ve been diagnosed, can we go and look at their genome, their DNA, part of their DNA and see what that particular sequence is of that DNA. So basically what a Bio bank is doing is it’s allowing researchers to do a lot of studies more quickly without having to go out and recruit individual participants.

Scott Gilbert – Now let’s talk about the process, when you talk about de-identification, I think that’s an important thing for people to realize because basically people are viewed as a whole person. You’re seeing their medical history. You’re seeing their entire genomic makeup; however, we don’t know who that person is and that’s by design.

Dr. Jennifer McCormick – Exactly. So when a person is participating in a Bio bank, when they decide to do that, you know, there’s a typical informed consent process they go through and they’re talking to someone associated with the Bio bank so that they can ask questions. But what they’re essentially doing is they’re saying I really trust you to use my information wisely and to be a good steward of that information because it’s, when you contribute to a Bio bank you have no, you really have no idea and you have no say in what type of studies those, your data are going to be used in. and your data can last a long time. So it’s going to be used, in theory, forever unless you retract your consent, obviously. So the de-identification process is basically your data. So if I were in a Bio bank my Bio specimens and my medical record data and any lifestyle and behavioral question answers that I have responded to, all of those would be linked to a unique code and then that code would be matched to my name. my name would then be removed from all the data. My social security number, my medical record number would also be removed from that data. So the code and, you know, those particular unique identifiers are over here in a particular database and then all my data links to that code are in another database. And this database where my data are linked to the unique code, that is what researchers are using and then what we call the honest broker, the trusted person, usually one or two people who are running the Bio bank, they have, they’re the only people who have access to that code. And, of course, all these data are kept behind secure firewalls. So here at Penn State all the data are behind the same firewalls and we take the same precautions to protect them that we would with medical record data in, you know, that’s housed in any of the medical centers, Hershey Medical Centers’ databases.

Scott Gilbert – And that’s so important because we’re hearing some, in a broader sense, the Equifax situation and some other privacy breaches out there, that might put some people’s minds at ease to know the kind of care that goes into protecting their personal information, their medical information.

Dr. Jennifer McCormick – Exactly, I mean, I think one of the things, of course, any institution can’t guarantee there’ll never be any breaches but when people are contributing to a Bio bank, an academic institution, a medical academic institution, the people who are collecting that and storing that really value the trust that people put into us and so we do what we can to be as trustworthy as we can.

Scott Gilbert – You’re watching Ask Us Anything About the Ethics of Genomic Research. This is Dr. Jennifer McCormick. She’s an Associate Professor of Humanities, also research ethics and policy expert here at Penn State College of Medicine. We welcome your questions and your comments, just add them to the comment field and we’ll make sure we pose those questions here to Dr. McCormick. Very simply, I guess then, what is the incentive, why would someone want to be part of a Bio bank? I guess one reason could be you have the potential to do a lot of good for the future.

Dr. Jennifer McCormick – Really that is the major incentive that someone would have to participate in a Bio bank. It’s really being altruistic and wanting to contribute to future research and trusting the institution to which you’re giving your sample and information for research. Now, in some instances, very rare but in some instances, well, let’s actually back up a step. Some of the Bio banks are disease focused so some are actually population based so they collect healthy and sick people’s samples and data but others are really very focused on a particular disease like pancreatic cancer, for example. And in that case, people may be very incentivized to contribute to that because they have a loved one or, you know, a friend or they know someone who has died from pancreatic cancer or who has pancreatic cancer. So that, so their incentive may be two fold, just kind of pure altruistic to contribute to science and future research but then also, you know, because they really want to do something to help promote understanding pancreatic cancer.

Scott Gilbert – Sure and that’s a really good example. And when it comes to some of these ethical issues, let’s dive into some of those. Because, so, for example, let’s say that I’m part of one of these databases and there is an incidental finding about my genomic makeup. It may or may not even be related to, let’s say I’m in a pancreatic cancer database, for a study on pancreatic cancer and let’s say you find something else out about me. Let’s say you happen to notice a gene that predisposes me to a totally separate disease. What kind of process is typically in place to determine whether that information should make its way back to the individual?

Dr. Jennifer McCormick – That’s a really good question. So in a lot of instances, models have been set up or what we call governance processes, so we start right back at the beginning of the consent process. When an individual is deciding to participate in a Bio bank, they’ll be usually typically informed in the consent document, not always but usually, that they shouldn’t expect anything in return in terms of an actual finding about themselves. But there may be the chance that something comes up that experts think might be clinically useful to that individual or that individual’s family.

Scott Gilbert – When you say clinically useful what do you mean?

Dr. Jennifer McCormick – Well that’s another really good question. You know, clinically useful, depending on who you talk to, can be perceived in different ways. In some of my own work I’ve come to appreciate that the experts, so clinicians and geneticists, might view clinically useful have a much narrower definition of what is clinically useful than someone who is, you know, from the general public. A really good example of that is Alzheimer’s disease. Is finding out your risk, you know, whether you carry a particular mutation in the gene called APOE4, which increases a person’s risk of Alzheimer’s disease. Is that getting that information back? Is that finding useful? Medical experts would largely say not really because we can’t do anything about it.

Scott Gilbert – There’s no cure.

Dr. Jennifer McCormick – Right. But many other people, and I’ve heard this from numerous people, would say well, actually I can plan for the future, I can change my lifestyle, I can do more mental exercises. So again, it kind of depends on who you are. Typically, though, in the case of a Bio bank because it’s, really the intent is research and discovery than the definition that is used, often used is a pretty narrow definition of what is clinically useful. But, you know, a really good example of that would be going back to your question is, if in this pancreatic Bio repository, if the investigator found that some of the participants, a small number, actually had, were carriers of a pathogenic mutation in what’s called the BRCA gene, which [inaudible] increases a woman’s risk significantly for breast and/or ovarian cancer. So that, most experts would agree that that is clinically useful and so typically, you know, the investigator or the scientist would have that finding, they would take it to this group of experts that might contain clinicians, maybe even a layperson, other scientists, and they would kind of discuss and decide whether it should be returned and in that case Bio repositories usually have a process set up and in some instances, so the process would include reaching out to the individual, usually with just kind of a letter, informing them that something has, that we’ve found something, that their sample has been used in a particular study and that the investigators have found something that they might, that the individual might find useful and if they want further information they should contact this number. And if they reach out and make that contact then the individual is set up usually with a genetic counselor to talk about the pros and cons of learning a genetic finding and then if they decide to learn, you know, go further, then they actually learn about that finding. Sometimes it’s returned to the individual as purely a research finding, which means that the individual would then need to go on and get it clinically validated so get it tested in a real clinical lab.

Scott Gilbert – All important stuff to ask about up front, perhaps-

Dr. Jennifer McCormick – Yeah.

Scott Gilbert – when you become part of a Bio bank or Bio repository. You’re watching Ask Us Anything About the Ethics of Genomic Research from Penn State College of Medicine. I’m Scott Gilbert alongside Dr. Jennifer McCormick. She is Associate Professor of Humanities, also a research ethics and policy expert and we welcome your questions for Dr. McCormick. Another one of mine souled involve who has access to that information. A lot of questions. Because you talked about contacting the individual. Other considerations might be, should the individual’s family members have access to the information because no finding such as this affects, well, I guess few findings affect just that individual because everyone is connected to a larger family unit and then also enter issues such as insurers and employers. People may say I don’t want those people to know this information.

Dr. Jennifer McCormick – That is another really good question. So let’s start with insurers and employers. There is a law in place called GINA, it stands for the Genetic Information Non-discrimination Act, and it is something that protects individuals from discrimination based on genetic information from health insurers and large employers. It does have some weaknesses; the law does, in that it doesn’t protect individuals from genetic discrimination by life insurers or disability insurers. So there are some protections in place but, again, there are some, you know, some holes in that. So, you know, institutions we, you know, kind of talked about the steps that institutions take to protect that information. So that, you know, that in and of itself should bring some reassurance to individuals in terms of anyone coming in and getting it just because they want to in terms of insurers. Family members is another really good question in terms of, yeah. So usually if the individual is alive a researcher would not return a finding to a family member unless the individual gave that researcher permission to do so.

Scott Gilbert – But let’s say that the individual has passed away and that this finding could affect, let’s say, the individual’s children.

Dr. Jennifer McCormick – That is another really good question and there are a group of researchers who are working on that. In fact, one of my former mentors, with two other individuals, did a large study that was funded by NIH and they looked at this very question. They did empirical work so they did a survey and did interviews and then based on those data they had a working group with other experts in genetics, genomics, and research and privacy and confidentiality, and they met over a series of, I think, at least three years and they came up with a set of recommendations that were actually published in a peer review, in a journal in 2015. So, you know, now because of that we have kind of recommendations as how to move forward but for samples that were selected prior to that it really is a good question and basically what the experts say, suggest is that the investigator does not have an obligation to go out and hunt down those family members. If a family member should come to them and they want that information and the participant, before they died, did not give permission to share with family members, then you follow the state law in terms of who is at the top of the next of kin hierarchy in terms of who can get the information. That would be similar to with medical information.

Scott Gilbert – So very important questions to ask though. And, again, these are all things that if someone is going to participate in a Bio repository or Bio bank they could ask up front for some of the answers to these very important questions.

Dr. Jennifer McCormick – Exactly, exactly.

Scott Gilbert – I guess another question I have is about how researchers and medical professionals go about right-sizing people’s expectations because we talked earlier about how much of the benefit in this type of research that results from genomic study it’s to benefit people in the future and do some people approach it, though, wanting to be part of this kind of work, mistakenly thinking it’s going to cure them of whatever they may have.

Dr. Jennifer McCormick – Yes and that, you know, that’s not a problem isolated to just Bio banking and genomic research but, indeed, I think it’s really important to remember that while we have the full sequence of the genome, that was the goal of the human genome project that really lasted throughout the 1990s, the full sequence being released in early, the early first part of the 2000s, we have that data but there is a lot of that data that we do not understand what it means or know what it means. In a biological context, let a lone in medical context. So I think we need to realize, scientists and the public, and clinicians, that this is an exciting time and this is an exciting era to be working and doing things with genomics but we have so much to learn and we should not expect cures or significant changes to how we treat people for quite some time.

Scott Gilbert – Because it’s voluminous data that comes from a genome study and we don’t know what all that data means yet, do we?

Dr. Jennifer McCormick – Exactly. I mean, we are making incremental progress. I mean, we can go out and you can see different studies where we’ve come to understand a particular, a mutation in a particular gene in a particular group of people and we’ve figured out, well, wow this is a new mutation and this is associated with a disease that we didn’t realize. So we’re making incremental small steps but huge, anything huge, you know, is not going to happen for quite some time.

Scott Gilbert – Dr. Jennifer McCormick, you’re an Associate Professor of Humanities, a research ethics and policy expert. There are some very impressive books in this office, which people can’t see on camera right now but as you would expect there are a lot of humongous, academic volumes. I need to show you one of them, though, this is really my speed, Genetics For Dummies actually exists. That’s fantastic. So this might be a good resource for people to go to. And if there are any other resources that people can read about genetics and genomics. Perhaps we can share those links below the, in the comment field below this Facebook post. But is there anything else you’d like to add, as we wrap things up, that you’d like people to know about.

Dr. Jennifer McCormick – Well, I think basically I would encourage people if they’re interested in participating in a Biobank or a general genetic, genomic study that they should but they do have to realize, you know, some of the different risks and they should approach the study thinking I’m doing this, or approach participating in the Bio bank, I’m doing this altruistically, I’m contributing to the progress of science because really we’re not, it’s not just the scientists who make this happen, it’s the people who participate. Really, they’re just as critical as the scientists doing their work.

Scott Gilbert – because without those participants there would be no repository.

Dr. Jennifer McCormick – Exactly.

Scott Gilbert – Fantastic. Dr. Jennifer McCormick, thank you so much for your time today. It was great talking with you about it.

Dr. Jennifer McCormick – Thank you.

Scott Gilbert – And we appreciate you watching Ask Us Anything About the Ethics of Genomic Research from Penn State Health and Penn State College of Medicine.