 So good afternoon and thank you all for being here. My name is Karla Easter and I'll be moderating today's panel discussion entitled, Genetic paternalism, striking the balance between expert perspective and patient autonomy. Or in the words of our panelists, Candice Henley, does the treatment match the life? And the goal of today's discussion will be to explore the tensions that exist between genomics research and medicine from patient provider interactions to research engagements with various communities. Our panelists will explore how experts can act in the best interest of their patients and research participants without assuming they know what is best for those individuals. Before we begin the discussion, I'd like to thank a few people for making this discussion possible. I'd like to start by thanking our panelists who I will be introducing individually ahead of their presentations. I'd like to thank Amanda Conti and Christina Caposti for their conceptualizing and organization of the program. Joe Simani and William May for their wonderful technical support and to the members of the communications and public liaison branch at the National Human Genome Research Institute. Just a few logistics. This session will be recorded and we will be holding any questions until the end of all the panel discussions. If you do have questions, please place them in the queue and day section of the Zoom and we will get to as many questions as we can. And so without further delay, I would like to introduce our first presenter and presentation, which will be an ethical framework for directiveness in genetic counseling practice. Layla James is a certified genetic counselor and bioethicist with joint appointments in the National Cancer Institute and the National Institutes of Health Clinical Center Department of Bioethics. Some of Dr. DeMoll's research interests include applying the ethical principles to genetic counseling practice and how familial and individual interests in genetic information should be conceptualized and balanced. Dr. DeMoll holds a master's degree in genetic counseling from Johns Hopkins School of Public Health and the National Human Genome Research Institute and a PhD in Bioethics and Health Policy from Johns Hopkins. So I will now turn it over to Dr. DeMoll. Thank you. So thank you for inviting me here today. I'm very excited to be here. As Carla mentioned, I'm a genetic counselor who spends a lot of time thinking about bioethics in the context of our clinical work and related policy work. And so I'm gonna talk today about this question of paternalism in medicine by spotlighting how I think this question plays out in genetic counseling specifically. And I understand that the questions about medical paternalism permeate our healthcare system and are much broader than genetic counseling, but I think we have a special relationship to this concept. And so I'm going to focus on that fully understanding that my co-panelists are going to kind of take this and talk about it in broader perspective. So to get us all on the same page, I know we're at an HDRI and people probably know this, but I wanna just highlight what I'm talking about when I talk about genetic counseling. I'm really talking about our modern profession, which originated in its current form in the early 1970s. And I've displayed for you on this screen our most recent description of who we are. We are master strain healthcare professionals who help people respond to and make decisions based on information about the genetic risk of disease. And so we aim to educate and we aim to counsel patients and we hope to facilitate informed choices for them. And I think of us kind of as the patient navigators of the genetics world. And I think the definition I'm showing you here is a really good one, but I've always found two things kind of curious about it. One, it doesn't really explain why our services are important in the context of genetics specifically, why it is that we have this group of master strain professionals who help with these issues in genetics as opposed to any other part of healthcare. And I also think this definition really omits any notion that we should ever be providing recommendations or advice or direction to our patients. And so I'm gonna talk a little bit about why I think that is and why I think right now, we might be a good time to challenge that thinking a little bit. So when you look at our profession in historical context, it's not difficult to see why we have wanted to refrain from telling people what to do with their bodies. As I mentioned, the modern profession of genetic counseling emerged in the early 1970s in the same period that both women's reproductive rights and disability rights were being newly recognized and codified in US law through things like the Roe v. Wade decision and through the Americans with Disabilities Act. And at the time, genetic counselors were mostly working with patients with families who were trying to decide whether to undergo prenatal testing or other procedures to determine the chances that their pregnancies might be affected with one genetic condition or another. And as we all know, pregnancy decisions are highly personal and influenced by so many variables. And I think genetic counselors rightly wanted to make space for all the different types of choices and values and emotions that women and families might have with respect to family planning and the possibility of having a child with a disability. And as history progressed, we started to work with patients and families in different contexts. But even in the 1980s, as the scope of our work expanded, we were still dealing with very serious, life-altering conditions, often that affected reproduction or surgical, invited surgical choices. And in many instances, the work that we were doing also required us to work with communities that had specific disease risks that were particular to their ethnicity or their population group. And as such, they had really culturally influenced ways of talking about genetic risk and handling genetic risk that I think genetic counselors rightly really didn't want to step all over with science. And I think, at the same time, our profession, while we were dealing with all these really complex nuanced issues, our profession was quite homogenous. And unfortunately, I think this is the thing about our profession that has changed the least over time. The colleges where the profession started had white women in high supply. And I show white women here with lots of different hair colors just to say that I know there's still diversity, even in one ethnic group. But unfortunately, the ethnic composition of our profession has never really matched the ethnic composition and the cultural composition of the populations we're trying to serve. And so I think, while we've been dealing with these very sensitive issues historically, we haven't necessarily reflected the values and the range of attitudes about these issues that are present in the populations we're trying to serve. And I think we have quite a lot of long-standing insecurity about that as a field, and perhaps rightly so. So all of this taken together gives me the impression that these historical origins really explain well why our field has been strongly wedded to this concept of non-directiveness historically. Although non-directiveness doesn't have a consensus definition, it generally means refraining from exerting our influence over patients' choices. And I think it was a well-motivated, highly understandable effort to distance ourselves from some very ugly ways that genetics has been used to control and devise oppressive narratives about population groups in the past. But non-directiveness has always been problematic because it's never been clear how a healthcare provider could possibly have meaningful interactions with patients and not influence them somehow, right? And so it's been critiqued by many people in the past as a way of kind of dodging the bullet and maybe avoiding some of the more complicated ethical questions that arise in our work by just saying, hey, we're not gonna interfere in people's decision-making. And the justification for doing this has generally been that we want to protect patient autonomy. And so this concept has been critiqued in a lot of ways that I can't do justice to today, but what I wanna focus on today is really how things have changed since this idea of non-directiveness first arose in our profession. So since the 1970s, genetic and genomic testing has really started to cover a lot more ground than it ever did before, right? So we started off in the prenatal realm and then soon we started working with patients around their cancer risk. But nowadays we are using genetic testing in cardiology and pharmacogenomics and infectious disease and hematology and there are direct to consumer tests that look at ancestry. And so the scope of topics and the scope of information we're able to bring to an interaction is now very, very much broader. And with that has come, I think a lot of variation in the different types of issues we're discussing we're no longer focused only on severe rare disease and reproductive choice and surgical choice. We have, we still very much deal with that but we deal with a lot of other things too. And at the same time, the level of complexity of the information available to us has really grown exponentially, right? And so we get a lot of extremely nuanced very technically complicated results across our desks some of which have very ambiguous or confusing implications for people and the evidence base is changing very quickly. So the burden I think on people whether you're a patient or a provider to understand this and make sense of it has just gotten tremendously higher and the complexity has increased at the same time as the volume of information has increased. And in the same time period we've also seen more and more different types of entities are getting into the genetic testing game so that it's now possible to obtain genetic testing from research studies or clinics or from the internet or from a variety of different sources. And I'm not inherently against the idea that genetic testing should be made available to people more directly but I think we have a long way to go and empowering people to use this information safely and with our eyes wide open about all the limitations. I think that's still work in progress. And so we're starting to see evidence that medical errors are occurring in genetic testing that people are making mistakes because it's gotten so complicated. And that's true of us, the providers as well as patients who might be accessing information direct to consumer. And I don't think historically we've really had a common understanding of what a medical error looks like in genetics but I think that's something that we're gonna have to think about more as things have become so complicated that mistakes really are starting to be made in ways that might induce us to ask whether it's important to do a little bit of gatekeeping in terms of who actually can sign off on genetic testing knowing that it's being done the right way. I think there's a lot of evidence to suggest that physicians don't have a lot of training in this and right now I think it's an active topic of debate exactly who has the appropriate expertise and authority to really use this genetic testing in the healthcare system. But I'm optimistic all the same that we are moving in the right direction. And even in the short time I've been in this profession there's been a real growth in the amount of evidence and the number of guidelines we have that are based on hard data showing us that there are certain things that are unhelpful in genetics and then there are other types of testing that really there's a right or a wrong way to go about them. Or there's certain information that's clinically useful enough that by default we should suggest reporting it even if people have the choice to opt out of learning it. So we've started to kind of be a bit more normative a little bit more positive in our recommendations about how to go about this and how not to. And at the same time we've also learned more about what goes on in the clinic and what goes on in a clinical interaction. So we know now based on research done in our profession and in adjacent professions patients often experience short-term distress when they learn bad news and that they often adapt and thrive with the right kind of support long-term. We know that implicit racial attitudes shape the extent to which counselors tailor and personalize their information to different groups. And we know the environment a person is in affects the way they perceive and express information. And so I think we have a body of evidence now we can start to use to really deliberately shape the environment in which we're having our interactions with patients to facilitate a more even playing field and make us feel a little bit less scared or hesitant to recommend things kind of, you know understanding that the environment we're in can be structured to really facilitate a good relationship with two way back and forth. The final thing I'll say before I just I talk a little bit about my framework for thinking about this is that, you know as I mentioned, there's a lot of conflict right now around who should be authorized to order genetic testing and who has the right expertise. And in genetic counseling specifically we've really been advocating for recognition as a healthcare profession reimbursable by Medicare and Medicaid. And we've been struggling for that recognition for a long time. And I do think that part of the struggle here is that we're trying to assert our expertise as members of a new healthcare profession. And I think it's hard to do that and also argue that we defer to patient choice in every single thing that we do, right? I think part of our maturation as a profession is going to be looking at, you know what are the values and the principles that motivate the use of our expertise and what are the considerations including patient choice and preference that might override or limit the use of our expertise. I think it's important for us to get more granular and specific about that. And I don't think in many ways it's a different road that our colleagues in nursing and medicine have walked. They just are older professions than us. And so they've walked this territory before us. So I'm gonna leave you just with a framework that I've developed, which helps me answer the question when and to what extent is it acceptable or possibly useful to be a bit more directive with patients than we've traditionally felt comfortable being. And very quickly I'll say, you know this is not supposed to be a solution to all problems but rather just like a way of navigating and thinking about these issues. So the first thing is to look at what is the goal of counseling, right? I think, you know, sometimes when we work with patients we are there to sit with them and process an emotional response to learning a diagnosis. There's not really a lot I can do as a clinician to tell someone how that should go, right? That comes almost exclusively from them. I'm there to listen. But there are other times when patients come and they have really nitty-gritty questions about how to select a prenatal test given their values and given their goals, right? And in that case they really need some technical expertise from me and they want suggestions, right? So the goal of counseling is going to shape a lot what someone is asking you for and how much guidance they need from you. I think similarly, you know, genetic test results have an increasing informational burden overall but some are much more open and shut than others, right? And so I think being directive can be more useful in situations where the informational burden of a test result or a risk assessment is very, very high. And that's relative, right? Because some people are burdened more by certain types of information than others. And then I think also one thing we're starting to grapple with is that some of the information that we are talking about and returning to families, you know, really has the potential to save their life through targeted screenings and interventions. And I think when that clinical utility is so high we may sometimes have a reason to inform people about information that they might not want to hear even if it's unpleasant, it could save their life. And so that's an area where I do believe very firmly that sometimes, you know, the clinician has to be the bearer of bad news even if the patient doesn't want to hear it. I also think that there are structural and contextual factors to do with the environment we operate in and the relational basis of the work that we do that are really important to remember. So whether you work in industry for a company or whether you work in a research, for a research study whether you have a long-term relationship with a family or it's a one-off phone call, I think, you know the vantage point that you're counseling from really matters and we are now counseling from more different vantage points than we ever had before. So I think we need to be very mindful is there a power dynamic set up by the fact that I work for the company selling you the testing or I work from the institution I work for the institution that's saved your life, you know, to really acknowledge, you know where we are in the system and the positionality and how that affects the interaction. Similarly, you know, do you know your family well or are you just there for a one-shot, half-hour counseling session, you know depending on how deeply you've forged a relationship you may have more per view or less per view to make suggestions to people about a course of action. And then finally, I think it's really important in our work to contract with families around are we working with just individuals and are we prioritizing individual goals or are we more useful working with the collective unit working with a family. And I think, you know in the context of working with a family you've got to balance more than one person's interests and it's really important upfront to be clear with patients which unit of significance is the right one to focus on because sometimes within a family there's conflict, right and you don't want to get caught in the middle of that unless that's what the family has asked you to do. So I'll just wrap up by saying that I think non-directiveness came from a very genuine desire to accommodate a wide variety of values, preferences and emotions people are facing in very challenging circumstances in genetics clinics. But I think one way to make room for difference that we haven't really explored enough is to invite it deliberately into the room. And so some of the effort we've put into being non-directive might have been better channeled into investing in creating new pathways for different kinds of people to become genetic counselors so that we can be confident that our growth and development as a profession does not depart from the mix of values and viewpoints and attitudes held by the people we're trying to serve. In other words, we want to make sure the counseling matches the life. And so I think, you know, I would love to see a shift some of our energies instead of trying to refrain from being directive and make recommendations to really positively try to invite more viewpoints and more values into the thread of the work that we do and to have people in positions of power in our profession look like the people that we're trying to help because I think that that is part of the answer to this issue. And with that, I will stop and look forward to hearing from my co-panelists. Thank you so much, Layla. That was extremely informative and I'm sure we'll have a ton of questions for you. So our next presentation, which is entitled Sickle Cell Disease, A Marginalized Community in the Genomic Spotlight will be given by Ashley Busetta. And Ashley Busetta is a family nurse practitioner at the National Institutes of Health in the National Human Genome Research Institute's Health Disparities Unit. Her research focuses on equitable integration of precision medicine and genomic technologies into clinical settings, particularly the sickle cell disease community. And so with that, I will turn it over to Dr. Busetta. Thank you. Thank you, Carla, for the kind introduction. So as Carla mentioned, I'm a nurse practitioner working in the Health Disparities Unit led by Vence Bonham. And my presentation today focuses on the sickle cell disease, which is a community near and dear to my heart. And I've been working with them in different capacities now for over a decade. So sickle cell disease was first described back in 1910 by an internist in Chicago named James Herrick, who reported his discovery of sickle-shaped red blood cells in his patient, Walter Noel. It then took almost 90 years, that's nine zero, for this disease to have its first FDA-approved treatment called hydroxyurea. In 2009, the NHLBI group led by John Tisdale reported success with stem cell transplantation in adults with sickle cell, which had already been shown to be successful in children. However, the reality is that the majority of sickle cell patients don't have a matched donor and will not be able to use therapy or benefit from it. Since 2017, three new drugs have been approved to treat sickle cell. And in 2020, the national academies issued their consensus report, which provides a strategic plan and blueprint to address this disease. So sickle cell affects approximately 100,000 Americans, the majority of whom are of African ancestry. It's a complex disease caused by a single point mutation. So it's just the simple A switches out to a T in the six codon of the beta-globin gene. And it can present with various complications, significant morbidity and early mortality. Complications include excruciating pain episodes, strokes, leg ulcers, pulmonary hypertension and end organ damage. In December of 2018, Francis Collins stated that we stand on a verge of a cure for sickle cell disease. The big statement. This timeline shows how quickly the potential of gene editing has become a reality for the sickle cell population. In 2012, CRISPR was first applied to genome editing and it did not take much longer for this technology to start to be utilized in human research trials. The molecular basis of sickle cell disease, remember just that single switch from an A to a T makes this a perfect target for this new technology. So several trials have started using various techniques and recent reports have shown initial success in patients that have completed treatment. But I wanna bring you to 2021. One month ago in February, Bluebird Bio suspended its gene therapy trials after two patients were diagnosed with leukemia and myelodysplastic syndrome. This is after another patient had already passed away in 2018 who had also developed myelodysplastic syndrome or MDS. Most recently, last Wednesday, I read a report in the New York Times that the company announced that their investigation did not find that the viral vector that's used for the gene therapy caused the leukemia and they were also still investigating the patient with MDS. They have asked the FDA to continue the trial but it has not been granted as of yet. So with all the buzz about gene therapy four to five years ago, our group in the bottom lab felt that it was important to talk with the people that could be directly involved in these trials. So we held 15 focus groups. Six were with individuals living with sickle cell. Six groups were with parents of someone with sickle cell disease and three were with physicians who treated this population. Two former fellows in the lab then critically analyzed the content of the focus groups and what was said and put the pieces of the puzzle together. The first project focused on investigating the perspectives of gene editing from these three groups and the second project focused on what should be included in order to make a complete informed decision to participate in one of these trials. I'm now gonna share with you some of the important findings from the first project which was conducted by Neutropersad and aptly titled a CRISPR focus on the attitudes and beliefs towards semantic gene editing from stakeholders within the sickle cell disease community. I apologize for this busy slide but I'll just highlight some of the important aspects on here. So through coding and qualitative analysis, we're able to highlight important factors that were common amongst all the groups. Patients and parents wanted to know and understand how the treatment works. They wanted to know all the details, all the nuts and bolts and they even wanted to know the longitudinal nature of the therapy, the track record of the research. They were even asking questions about the mice in the labs that were subject to the animal studies in order to determine that this therapy was safe and available to humans. Regarding concerns, there was anxiety and worry about the uncertainty of the risks and the long-term impact that gene editing may have. Some of the motivators to participate included the potential of this therapy to reduce the suffering and the debilitating nature of this illness and thus improve quality of life. And the mediators really went both ways to influence decisions for or against participating in a trial. We asked these people, who do patients and parents want to consult with most and who with least? All of these groups are mentioned as sources of advice and counsel. But undoubtedly physicians will be a key player within this process. Just like our patients and parents, the physicians expressed hope but this hope was tempered by caution. I'm gonna highlight this quote here. I think that relationships are extremely important and when you build that trust with someone, they could tell you to ride this rocket ship to the moon and you believe that they have your child's best interests at heart. You genuinely believe that and that speaks volumes to me. The next project that came out in this study, we analyzed the focus group content to pull out the desired information about gene editing that should be included in an informed consent. I'm now gonna talk about the findings of this paper which all resonate with the underlying bioethical issues of equity, trust and transparency. First, one of the interesting findings that I wanted to share is that we used the survey to measure the level of familiarity with genetic concepts. Patients and parents were asked to rate their level of familiarity to these eight genetic concepts on a scale from one to seven. One not at all familiar to seven completely familiar. The physicians then completed a modified version of this which basically asked them to assess their beliefs regarding the genetic literacy of their own patient population. It turned out that physicians expected their patients to have low levels of familiarity with these concepts. But as you can see with these scores, 6.44 and 6.88 for the patients and the parents, our group tested fairly high meaning that the physician's perception was not accurate. We found four main themes that describe the information that people wanna know. The first is side effects. They wanna know the full spectrum of side effects. How the side effects can vary from person to person because there's so much variability within the disease itself and there wasn't resonating discussion about how this population is so vulnerable and has this intense desire for more treatment options and relief of symptoms that they may even overlook these side effects in order to participate in trial. Mechanism of action or how it works. There's a strong desire to understand how gene editing works from both a molecular and a procedural level and how it will affect health outcomes. Eligibility. The theme of equity was seen here with questions asking if all individuals with sickle cell regardless of age or disease severity would be eligible. Physicians had varying ideas on who would make the best candidates. And recently I was on a town hall that was discussing the bluebird suspension of their trials. And there was an interesting comment from a mom who stated that her daughter did not qualify for a trial because the way that they measured pain crises with by using the number of hospital admissions in the past and her and her daughter tried to do everything that they could to keep her daughter out of the hospital. This does not mean that her daughter was not having pain crises but because they were using this metric of the number of hospital admissions her daughter did not qualify for the trial and finally quality of life. These concerns range from short-term day-to-day effects to long-term effects. Will they be immunosuppressed? Will they be able to be around their kids and family and be able to take care of their family? Will they have pain every day? What's their health maintenance and their follow-up appointments? Will they have to take medication for the rest of their life? So in closing, I would like to reiterate these bioethical issues of equity, trust and transparency and how all of these should drive all patient interactions. Our approach to counseling patients should be to engage and empower them to keep the patient and their community front and center and to always provide easy access to understandable information. There's just a few quotes from this project that I would like to share with you. We need a seat at the table. When this clinical trial is going on and you've got the researchers who are above in setting up protocols, setting up how it's going to work, advocacy, CBO, patient, medical researchers, people that have sickle cells, they need to be involved in every aspect of this trial. And another quote from a patient, scientists and researchers should want to do this to help patients, help people, to see them as people and not as science experiments, keep the patient first. And with that, I would just like to thank all of the patients, parents and physicians who graciously participated in the study as well as all the present and past members of the bottom lab, especially Anitra Prasad and Stacey Desin, who were the first authors on both of these papers. Thank you. Thank you so much, Ashley. There's been a lot of activity in the chat, so I'm sure there will be many questions following our last presentation. And with that, our last presenter is Candice Henley and she will be presenting on patient perspectives, how social and historical context shape patient needs. Candice is the founder of the Blue Hat Foundation, an organization dedicated to increasing awareness and education for colorectal cancer in minority and medically underserved communities. As an advocate and person of color and a survivor of cancer associated with Lynch syndrome, Ms. Henley has a multifaceted experience with how communities of color perceive heritable disease and the risks associated with genetic testing and research participation. And so with that, I will turn it over to Candice. Hi, and thank you all for joining us this afternoon. It is such my pleasure to give my portion of the presentation. And so I'll start. If genetic testing is so good for us, why aren't more minorities participating in research and genetic testing? Since arriving, since African-Americans have arrived in the US, the healthcare for us, we've had the worst. We've had the worst healthcare and the worst outcome in healthcare. The mistrust that African-Americans have towards research and genetic go far beyond Tuskegee and Henrietta Lex, which is commonly acknowledged in research as a demonstration as how research can go wrong. But I always challenge researchers to go far beyond that to 1619 when African-Americans were brought here as slaves. And during that time, we were performed, we had various types of experiments done from having hysterectomies with no anesthesia, performances of limbs being removed again, no anesthesia. We're talking about other issues being performed on babies and so we're talking about a very wide view that goes beyond what you all probably don't even know. And so when we talk about why minorities don't participate in research, this is why. The healthcare system has been structured to be racially separate and unequal since the Civil War in 1865. Physician leadership actually established the healthcare system based upon the myths that African-Americans were inferior, so therefore segregation was necessary. So why does that play today and why am I here speaking about it? Because it still happens today. The healthcare system is structured in three levels that is the structural bias, which is based upon a person's ability to pay. Institutional bias, which is hospitals and clinics being built and wealthy and well-to-do neighborhoods while African-Americans and other minority groups are affected by very poor access to healthcare and hospitals and closures in their neighborhood, therefore taking life-saving advances in treatment and medicine away causing the ability, causing us to have to travel beyond our areas for healthcare. And if we understand the social determinants of health, we know that there's barriers to this. There are financial barriers, there's educational barriers. We're even talking about transportation barriers were redlining. So for me, when I look at this and I talk about how patient and implicit bias and genetic counseling all ring together, it still rings today with the patient's ability to understand what's happening. And I'll share briefly in my story. I was diagnosed with colorectal cancer in 2003. And when I was diagnosed with colorectal cancer in 2003, I didn't have an idea what it was and I was 35, but it took six months for them to find out that I had colon cancer. I had my uterus and ovaries removed because that's what they said it was. And because I was like, I just wanna live, whatever it was that I needed to do, I wanted them to do. So I was stifled, I didn't ask questions and no one offered information. And so I said, okay, let's do what you need to do. But again, no one offered any information to me as to how my life was going to change. Three months later, found out that I had colorectal cancer. And when they told me that I had colon cancer, I was still stunned. I was like, okay, what's that? And when they found that I had the tumor, no one asked me what was happening at home. I just went in and had this emergency treatment. I was diagnosed with colorectal cancer in the emergency room. And I went from the emergency room to a hospital bed to surgery all within 36 hours, but I have a family at home. No one explained to me what the procedure met, what it was going to mean for my life after I had this procedure. I wind up having my large intestine removed and a resection to my small intestine. But again, no one offered any information as to how my life was going to change. And at the time, I myself was like, I just want to live. Then they mentioned Lent Syndrome. And I'm thinking that's a badge of honor, it's Lent Syndrome, great. But no one explained to me that it meant that my children were going to be possibly in need of having genetic testing because I had this gene. And it wasn't until 11 years later that I did research on my own after connecting with other patients and realizing that, oh, it wasn't a badge of honor. It was something that I needed to look out for for my children. When I asked my physician as to why this wasn't explained to me, it was told to me that there was so much happening. You were so, you know, it was in such distress. And so we just put everything together for you so that you didn't have to worry. But in this process, no one gave me the opportunity to process what they were giving me. And so as a result of their decision for my life, I became homeless with five children. Trying to put my life together, I couldn't work. So when you have doctors making decisions for you, where does that decision take into account the life that I have? Which is where the term does the treatment match the life? When we are patients and we are struggling to receive information, we do have mind blockage. But we also need to trust you, the physician, the medical community with guiding us in terms of, listen, this is what you need to know. Whether or not we're in fog or not, sometimes we just need to know so that we can make the best decision. Does the treatment match the life is a question I asked because it didn't match mine. So when you are asking your patients and you're talking to your patients about research and procedures, you need to take an account whether or not that procedure is going to affect that patient's life because are they taking care of small children? Are they taking care of elderly patients? You know, what is their work condition? Can they take off work? Can they participate in research? Because what is happening in their life plays a big role in how compliant that patient will be in research, clinical trials and genetic testing. It is historically known that in minority communities, the doctor is always right because that's what we've been told growing up. But the doctor is not always right when it comes to what's happening in our lives if they don't know. And so the reason why I gave that little historic, a little history on medicine and medical research is because that is what's missing in the research community. We don't understand historical fears. I once had a researcher ask me whether or not Henrietta Lacks was still a thing. And that took me on the path of wanting to educate researchers that it's not a thing and it didn't start there and it didn't start with Tuskegee. It started in 1619. And so it is a necessity that the medical community understands and research and educate themselves on medical history. So therefore they can understand the history and the history of medical fears and understand why patients of color are fearful when we talk about research. And so with that being said, I wanna thank you for listening and having me a part of this most important subject of patient autonomy and paternalism and genetic testing because we have to understand, we have to know that patients have to understand and they have to make the decisions that are best for their lives, whether or not the physician and the medical community agrees or not, but patient autonomy is important because what they don't know and what you don't tell them and what they go through may actually put them in a worse situation than they were before. Thank you so much. And if a thank you, Candice. And so with that, we're going to open it up to have the panelists answer. We have at least two questions that have come through the Q&A, but we would also encourage folks to continue to deposit their questions in the Q&A window. But the first question we have is, how much training do genetics counselors generally receive in disability rights? And I assume that that's for you, Layla. Sure, can you hear me okay? Yes. Yeah, so that actually came from Kevin. Hi, Kevin. Yes, so I know historically genetic counseling training has really emphasized this in various ways, especially through experiential learning, through having people with disabilities come and talk about what that means to them and how it shapes their experiences in the healthcare system. And I'm pretty sure that most training programs heavily emphasize that still. That said, what I'm worried about is the curriculum is getting very crowded for genetic counselors. There's a lot more content to cover now than there was and there's only a two-year master's degree. So certainly at the annual meeting, I have seen this topic crowded out by others. And I think that's a problem that many healthcare professions face, right? We all have too much to know. We all have too much to learn. But I would say overall, I think we may have turned away from it a little bit as other issues have come up. And I think there's a perception at least that we've gotten a bit too technology-centric at the expense of maybe caring about the disability community. So it's an ongoing tension and area of debate. Okay, thank you. So I have a question that I think some aspect of this question could be answered by all three of you. So this question is, how has access to medical information on the internet available on your phone and abled patients? Is this access seen as a help or a hindrance to medical practitioners? And I'll add, is it a help or a hindrance to the patients themselves? So I will let anybody take that or all of you take that. Dr. Google can be a patient's best friend. And it can be a nightmare because there's so much information. And I'm guilty of that. Information overload is, oh my God. I see that it says I have this and it goes from one situation to the next situation. And because we're not medically educated, we tend to stem on what seems like something that we've had. You know, if we've had this, if I've had this symptom, oh my God, it didn't reach it. So when we research, it can be a good thing because then it gives you an opportunity to have a conversation with your doctor because now you're educating yourselves about what you have been told. But then at the same time, we have to be cautious not to take in every piece of information because it's not always accurate. And so it's always good to take that information, write your questions down and take it to your doctor and say, I've been researching because I wanted to know more, but I have questions because it's not always accurate. So I think having an informed patient is always good, but it also can cause issues for the physician if the patient said, oh my God, I have this because Dr. Google says so. I totally agree with you, Candice. So I think I'm a huge fan for free and easy access to information, but I think what we've all learned, especially in the time of COVID is that there can be a lot of misinformation out there. And if you really don't have the educational background to kind of cipher through things, there are some things that you can see that can end up being very scary. And one of the first things that I will, so as a nurse, I joke that sometimes you're expected to know everything medical. And I think there's some parallels with the genetic counseling role too. There's the breadth of information that you're seen to be responsible for is very, very large. And I just tell all my friends, just don't Google that. And I will help you try to kind of wade through what the evidence is out there to find the best answer. Okay, thank you. So I have a second question here. With the rise of telehealth and medical bots as entry points to some care these days, does this remove the paternalism issue or since bots are programmed by humans, do they have the same tendencies? Well, I'll say, I think the short answer to this is we don't know, because these are new, right? So we need to do research about this, but I would suspect that certainly the bots, I think avoiding paternalism is a lot to do with listening to people and developing a relationship that of respect and trust. And I'm suspicious that a bot can do that as well as a person. And I also, I think I share the suspicion kind of embedded in your question that some of the assumptions and trappings that we've always had as healthcare providers might make their way into the way these bots are programmed. So I would say we don't know. I think I'm always open to new ways of doing things. I think this is technology that could be useful, but we'd need to be careful and research at every step, precisely what the impact of using these tools is, especially on minority communities. That's you. I think bots can be helpful in some ways, especially if you're on a topic that's kind of simple and straightforward, maybe has clear practice guidelines that are out there, really strong evidence. But when you're talking about paternalism and kind of throwing your assumptions away of what the patient is asking you for, you really can't get around that with using telehealth or a bot. That needs to be a person, a person, interpersonal communication. That's you. Great. So there's a question that came up that I wanted to just sort of elaborate on. And this really just goes back to each of you gave sort of a historical perspective before you spoke. And I just wonder how important do you think it is as practitioners, as someone who deals with the medical community, Candace, frequently, how important is it for practitioners and patients who understand the history behind some of these various topics? Again, I'm just wondering, again, it's not necessarily a proxy for someone's experiences, but can it help in building this idea of trust and having people sort of working from a similar framework if they know the history? So I'm just curious as to your thinking about that. It's very important because all communities of color are different. And it's not a one-size-fits-all in terms of treatment and in terms of connection. And there are also barriers that we have to overcome in challenges, I mean, we all have lives. Right now, no one is working a straight nine to five, okay? And so that assumption that I can come to the doctor's office because I have an appointment at nine o'clock, no, I can't because I work at McDonald's or I work at another position, doesn't mean that I don't care about my healthcare. The assumption is that if I cancel an appointment or I'm not, do you know what's happening? Do you know what I'm taking care of? Do you know what I have to deal with in order for me to make this appointment? Do you know whether or not it's a religious holiday? Do you know whether or not I am a caretaker? So there are so many dynamics that play into patients of color that you have to understand your patients on an individual basis. And not just because they're black because we're not all the same. Not because they're Latinx community. They're not all the same. But just because I live on this block and they don't know the person who's on that block, we're not the same. It is important to understand these and I hate to say barriers, but they are. It's important to understand what's happening in that patient's life because that makes a difference as to how their health outcomes may be and how good your relationship. I love the fact that I have a doctor that knows that A, I have daughters that are coming of age and it's time for their genetic test because I have Lynch syndrome. I like the fact that my doctor knows that I have all of these other challenges. So that means that that doctor is connected to me and it's very important that physicians understand what communities they're serving so that they can serve them accurately and actually not contribute to health care disparities. Right, thank you. And so I see we have just a few minutes left and I would love for all of you to have some final last words. But I did have a request to return to one question that came up that we answered in the chat but it's the question of gatekeeping. And so I don't know Layla if you would like to address that to begin with and then certainly I think Ashley and Candice if you have some other thoughts. And so this was really about some of the barriers that already exist to genetic testing and are we creating sort of gatekeepers for this? So Layla, would you like to respond to that first? Sure, so I'm glad we returned to this because I actually think it's very essential to what we're talking about is this notion of gatekeeping that I invoked when I talked and I didn't mean to suggest that more gatekeeping is what we need. But I think, so Les asked me, Les made the point that there's a huge issue with under a diagnosis and access barriers and genetic testing and obviously the fewer people who get genetic testing the less we'll know about variation in the population and that's bad for everyone. What I was saying with respect to gatekeeping is I think the gatekeeping takes many, many forms and it's everywhere in our healthcare system. So when you write a guideline dictating the best practices for interpreting sequence variants in clinical medicine you're gatekeeping on some level. You're deciding what meets the bar for clinical relevance and how does one determine that, right? When you institute provider order alerts that remind people, oh, don't order this if they're on this other medication you're gatekeeping on some level. You're putting a barrier there saying don't order unless you've filled out this checklist. When you certify a genetic counselor when you certify a geneticist and say they have expertise to do this kind of medicine you're gatekeeping in the sense that you're saying this person can do this and this person, people without this training can't, right? And so I think medicine is full of gatekeeping in many, many different ways. And we in genetics I don't think have just decided how we're gonna use all those tools to manage the flow of information in our profession. I think there's a lot of microcosmic ways that that has just been done haphazardly. And I'd be curious to hear what my co-panelists think about this topic of gatekeeping in general and how to define it because I think it's not necessarily straightforward. No, I think you made all great points and there are such good examples too about how it kind of exists on every sort of level. And it's interesting that we've talked about this a lot with other colleagues about even research in clinical trials conducted at the NIH. We feel like it takes, there's a certain kind of patient that can get through the gate at NIH to be on a research trial here. And I think, yeah, I'm for opening the flood gates, making the accessibility or increasing the accessibility and all that but we need to make sure that we have the resources and support in place to help the patients who are taking advantage of this. How to simplify the worst gatekeeper is a physician who doesn't understand genetics and keeps a patient from accessing genetic testing even though they are underage, even though they may present with conditions that normally affect other people or older people, that's the worst. And that is a huge issue that plagues minority and medically underserved communities. So I think we're down to our last three minutes. And as I said, I wanted to give our panelists the last word. So I will go in reverse order. And I'll first ask Candice, would you like to provide any last thoughts? My last thoughts are is when you're engaging communities of color, remove your academia and your white coats and address people and speak to people as people and remove implicit bias, try more understanding and try researching and understanding medical history. Wonderful, thank you, Candice. Ashley? Yeah, so as a nurse and nurse practitioner, my final thought is that you have this ultimate responsibility to know the information that your patient is asking of you. But ultimately, with every patient interaction that I have and every clinic room that I walk into, I want to learn something from the patient. And I think with that open-mindedness and that humility, you will end up having a very positive relationship with your patient. Wonderful, thank you. And finally, Layla? I'll just say, I think that panels like this are part of the solution. The more I can be talking about this, not only with other colleagues, but with the patients or the people that we serve, I think the more people will challenge my own thinking as has been done today. And that's just such an important process, we need to be doing it all the time. So thanks again for putting this together. Wonderful, well, thank you all. So let me just say some final thoughts here. So hopefully you all have enjoyed this session. We will be posting the recording of this session on the National Human Genome Research Institute, webpagegenome.gov. And again, thank you all so much for providing your thoughts and your presentations. This was a fantastic panelist panel. And I also wanna thank each of you who have attended today to be part of this. And with that, I wish you all the wonderful day and a wonderful week, thank you.