 All right, good afternoon everybody. Thank you so much for hopping on the call and joining us for our talk. My name is Appeline. I'm a fourth year med student at Boston University School of Medicine. I have been involved in research on disability bias in the prenatal context on research on the topic for the last four years. And my mentors, Dr. Descupta and Dr. Sabatello here at BU and Columbia respectively are here on the call as well. And today we're going to cover disability bias with regards to prenatal genetic testing and strategies that are out there to help reduce bias and improve patient care. All right, so just to go over the outline for our talk, we'll start with a quick intro. Get the scope of what we're going to talk about. I'll present a case for us to consider. After we review the case, we'll discuss broad concepts regarding patient centered counseling and non-directiveness or review the guidelines from the relevant professional societies. And with that information, come back to the case to better understand its pieces. And then we'll switch gears and cover our study and what we found regarding bias and retraining. So by way of an introduction, implicit bias is known to permeate clinical encounters and affect decision, clinical decision making and more importantly, patient outcomes. We mainly have great data regarding the way bias negatively impacts the patient experience based on patient race, gender, body, habitus and disability status. Something that is unique to the prenatal setting is that provider biases not only will be based on patient factors but also on perceived fetal factors. And our discussion here is centered on bias regarding possible disability, the possibility of disability in the fetus. This bias can cause significant harm and patients that are counseling techniques are our tool to decrease the impact of that bias and increase each patient's autonomy in their decision making with regards to choices that are often considered extremely complex. So with that we'll start with our case. So we'll consider a 38 year old woman who's referred at 18 weeks gestation because she's had a positive prenatal blood test, evaluating DNA from the pregnancy in maternal blood. So this is self free DNA. The test comes back indicating pregnancy has an increased risk to be affected with Down syndrome. Down syndrome is characterized by a wide range of developmental and physical disabilities, including mild to moderate intellectual disabilities, developmental delay, characteristic facial features, congenital heart defects and other congenital anomalies, as well as an increased risk of several health concerns, most of which are treatable. You counsel the patient that while the blood test result shows an increased chance that the fetus has Down syndrome, it's not definitive and an amniocentesis is necessary to rule out or diagnose the condition. So here we're starting with a positive screening test essentially. And the question I pose to you is, if the parents tell you that they would terminate the pregnancy of the fetus was found to have Down syndrome. As the patient's healthcare provider, how would you counsel this, this couple about confirmatory testing. And if we can open up the polling. Awesome. Thank you. So we'll leave this up for just about 30 seconds. So just get everybody's general ideas. I think I will go ahead and end the poll here. And we can open up question to. So now if the parents would not consider termination regardless of the pregnancy result. The same question, how would that impact the way you would counsel this, this couple about confirmatory testing. I think we will end this one here as well. Okay. Alright, so how, how should we guide this patient. So generally speaking, we think about the framework that we were proposing is based on the first question of whether termination would be something that the patient would consider. If the patient or family would consider termination given a certain test result, then it is required essentially that we that we recommend testing to enable them to enable to be able to have an informed decision and hear what we're getting at is if we are determining whether we should run a test, we're always asking ourselves, how would this change management. And here if a patient would consider termination with a certain outcome then we know that it would it would impact management. And so we have a requirement to offer to offer that testing. However, on the other hand with a patient who would not consider termination, regardless of testing result, then testing is always offered because patients can have specific reasons why that testing might still be relevant for them. But there's no reason to explicitly recommend testing with only this information about the patient. With further discussion, it might turn out to be the case that these that these patients should be recommended testing but solely based on this fact. We are to offer but not recommend necessarily testing. So let's get into some patient centered counseling concepts and we'll we'll return to this as as this might become clear and patient centered counseling really is all about taking a non directive approach to patient counseling. The benefits and risks surrounding many medical decisions can be uncertain and depend upon patient specific factors and I venture that specifically in this setting. They are even more dependent on patient specific factors. We providers are tasked with communicating information that's accurate and balanced to patients. And patients are counseling also includes more importantly includes taking the time to understand patients values patients perspectives, how they might be impacted by test results or data points. And using that information to frame how we present information. The goal here is to create an empathetic connection free from judgment to optimize patient autonomy in decision making. Rather than sort of perceived neutrality and simply listing information we're eliciting patient centered patient values and and a patient context that will then use to present information. According to a patient centered framework as opposed to a physician centered framework. So what are elements that help promote this autonomous patient decision making. These are the things that go into patient centered counseling. The first is building self esteem building up our patient and allowing them to to trust in their own competence in, in making this decision. These are truly statements such as I believe that you have the tools to make this decision I trust your ability to make this decision. Providing prior experience that the patient might have with regards to decision making or to decision making in this type of sphere, and more importantly understanding what happened in these prior experiences that might impact where the patient is coming from in the clinic visit today. Providing structure helping patients structure and understand the information that they're given and the decision making process. I think of this in terms of helping structure the timeline that patients have in the, the chunking the information and the decisions into more manageable parts. Reasoning is helping explore reasons for making decisions and, and I like the terminology here of exploring, because it's more so eliciting patient reasons for any decision or even conflicting reasons. Rather than, than providing reasons stakeholders is exploring differences among stakeholders in the decision. And this is oftentimes when we have two parents in the room who might be experiencing a situation differently, and, and need to explore that difference as they're coming to decision making and cultural competency this is recognizing the influences of a patient's culture that impact their perspective on the situation they're in, and the decision making process. Guilt mediation. I connect this a little bit with our first point self esteem. Aiding with feelings of guilt, and I often see this modeled with the statements, such as I trust that you're making the right decision for your family. I trust that you're doing right by by your family and so on. Community supports. This is helping obtain support and guidance both from significant family members or close ones and professionals. So on the one hand it's helping ensure that the patient has their circles. This is who knows about your pregnancy or who have you told about this test result. Who should we tell about this test result, but it's also helping connect with professional supports as they are needed. This is from genetic counseling to therapy or any, any supports from the professional standpoint that the patient might might need or want in this situation. And lastly anticipatory guidance and this is helping the patient engage in anticipatory activities, which might be relevant to to their decision to help. As they move forward with their pregnancy. So how do we facilitate autonomous choice. We engage the patient in critical and active reflection. In so we're exploring their, the fundamentals of their decision. We're identifying influences on deliberation and decision, helping evaluate the rationality of the decision, providing support and lastly not solely focusing on information. And here, the point is to frame information from the perspective of patient values rather than the perspective of our own values or provider values. It requires building an open trusting line of communication to develop a deep understanding of these values. And these are critical. This is critical to non directiveness. Now, important barriers exist a patient centered counseling and are important to consider because for this to realistically take hold in the way that we care for patients, we have to understand what's getting in the way. The first is differences in values or perspectives between healthcare providers and the patient. This is a scenario in which we all hold strong values or feelings and unfortunately far too often healthcare providers are bringing these and help letting them leak into their counseling, as opposed to starting counseling from the patient's perspective. We also have a healthcare provider explicit and implicit bias that gets in the way of patient centered counseling. And just to to ensure that we're on the same page here to quickly define between explicit and implicit bias of explicit we mean a biases of which we have awareness of the of the attitude and implicit or unconscious bias being biases of which we have no awareness. And that may be opposed to our declared views. Next we have assumptions that are made by providers of the patient's experience and lastly a limited amount of time and I speak of these together because time the time we have in clinic is the great enemy right all of these, all of these topics we just spoke of take time it's it takes much longer to elicit patient perspectives about their their complex decision that it does to simply share information and loss of time results or the feeling of being sure on time results in the shortcut of assumptions which is where where we lose the patient centered counseling the key patient can center counseling tenors. Let's take a look at the guidelines of professional guidelines on this topic so these are the ACOG guidelines. And they state that self free DNA testing which is screening is not equivalent to diagnostic testing. And that patients with a positive screening test result from fetal aneuploidy should undergo genetic counseling and a comprehensive ultrasound evaluation with an opportunity for diagnostic testing to confirm results. So, what is significant here to me is that the, the big should is genetic counseling. There is a positive screening test as in our case genetic, the, what should happen is counseling engaging in a discussion with an opportunity with the possibility of diagnostic testing, if that makes sense for the patient. There is no direct line from a positive screening test to a to a diagnostic test, because it's not always what makes sense for the patient. However, that opportunity is always there for the patient if that is what makes sense for them. So, looking at the American College of medical genetics and to no mix guidelines from 2021 after a positive screening test. They suggest to inform patients of the result and emphasize that confirmation of result requires a referral to genetics or maternal maternal medicine for further testing including genetic counseling, fetal ultrasound and diagnostic testing. I found really relevant and point about this is that the genetic counseling is actually a part of the testing understanding the patient's perspective, eliciting where where they're coming from. As they enter this decision making is, is a part of, of the prenatal testing in the way this is phrased, which I think outlines how, how significant it is. They suggest to emphasize the positive predictive value of the testing for aneuploidy in this case 50 to 95% and that it's dependent on maternal age. Thinking back to our case our patient is a 38 year old woman she might be on the lower end of that positive predictive value. And like Leslie they suggest that every patient has a right to decline genetic screening or diagnosis, so that any testing along the way can be declined. All quite consistent with the concept we've been we've been going over so far. So back to our case and to conclude our case so based on these this framework and these guidelines, I think we can circle back and think about this patient or family. Again, in the scenario where they would consider termination, given a certain test result. It sounds like what they need is that test result. Because that would help them in that consideration. And that is a step that requires a result to act on in a timely fashion to be enabled to make that choice. The patient would not consider termination regardless of the testing result then based on that information alone there is no specific reason to recommend that this patient pursue testing, but rather offering the testing and see and initiate a genetic counseling discussion or discussion with a genetic counselor. Preferably. So we're doing gears now to speak about our study. We put together a web based module including clinical vignettes implicit association tests and a module to help to to evaluate the implicit bias of clinicians in medicine and genetic counseling, as well as trainees to evaluate their bias evaluate how it impacts their cases kind of like the one we covered today. And they presented them with a module an online module regarding patient centered counseling and touched on two more vignettes and assessed their recommendations and associated connected them to the their implicit association test and compared their results after the module to before the module. Speaking to implicit association tests before moving on so that was the second part of our study this is a quantitative measure of implicit bias the test runs on the computer and asks that participants. Click left or right to associate a term with two categories that are located on the left or right or their of their screen. With regards to disability, there will be on the left for example disabled individuals or individuals with disability on the right individuals without disability and terms will pop up that might be of relevance to either either category and participants will will categorize those terms. In the second section, they will have to categorize based on two elements on either side. Again, participants with or without disability, but also good or bad, or some milliorative or pejorative distinction, which, and in the, what is evaluated is the time it takes for participants to to click terms into the right direction. The, the speed to categorize appropriately is then translated into an it score, I really want to seven of preference for or against people with or without disabilities. So our participants were just shy of 600. They were trainees and practitioners in various medical fields, including physicians, nurses, and geneticists. We classified them as genetic specialists or non specialists. So on the table here, we see that about a quarter of our participants identified as genetic specialists these would be medical doctors who are maternal phenomethicin doctors or genetic counselors or clinical geneticists. I believe we also had a nurse geneticists, and then a non specialists being our general physicians students providers and other specialties. And we analyzed our analysis was broken down into three parts. The first is determining factors that influence clinicians and trainees in their clinical recommendations. And what made them make the right or what what aspects influenced making the correct or guideline directed clinical recommendation to any given patient or vignette. The second was to evaluate the impact of explicit and implicit bias on clinical judgment in the prenatal genetic testing setting. And lastly, we studied our modules ability to improve clinical recommendation from before to after the module. So briefly here were the scores of the implicit bias testing, which shows sort of approximates the normal curve. So we see a highest representation of neutrality, but a slight skew towards bias for people, their preference for people without an intellectual disability. And here's the book of our findings so in all of these I will report the scenario in which the participants or the family would not consider pregnancy termination, regardless of confirmatory testing outcome. In this case that we coded the correct responses offering but not recommending testing. I think this this scenario best helps surface anti disability bias in in in recommendations. So, when evaluating the likelihood to recommend testing at all before the intervention, we found that age, which we considered to be a potential proxy for experience as well as genetic expertise probably unsurprisingly, both correlated with not recommending testing, as we know in this scenario, recommending testing or offering but not recommending testing is considered guideline directed so that is to be expected. High religiosity was correlated with recommending testing, and so did participant personal preference to test meaning if participants were asked were you the patient in this situation, would you want confirmatory diagnostic testing. And when patients answered yes they were themselves more likely to recommend testing, which demonstrates some provider centered counseling. After the module. High religiosity. I'm sorry age and personal preference to test were no longer significant. Looking now at the likelihood to make the consensus testing recommendation this is what we have listed on the table. We see that genetic expertise both before and after the module strongly correlates with making a correct or guideline directed. This is a recommendation unsurprisingly. Religiousness has had a negative correlation with making the correct testing recommendation. And lastly, again personal preference for testing participants saying if I were the patient I would want to get testing did correlated with making the wrong testing recommendation before the module but not after the module. So what did we conclude. First off training is critical. We saw that are we saw in both of these cases that participants with genetic expertise were far more likely to make the correct testing recommendation. So what we've listed among participants without genetic expertise, their improvement in alignment with professional societies was significant between before and after the module, specifically 42% of these non experts who had answered inappropriately, prior to the module change their answer to match guidelines after the module. What we're seeing here is that the experts are making the correct recommendations is they likely already have the training in patient centered counseling, and the non experts are easily or relative substantially learning from a one hour online patient center counseling module to make more patient centered guideline directed recommendation. These evidence based trainings can help providers make appropriate recommendations and improve the patient experience. So to put this data into a social context that I think is really important for broadening out our scope to outside of these vignettes, because in real life, patients are never certain as certain as the patients in our cases about what they would do in a test. We know that the relationship between what patients hypothetically might do before a test, what they are considering after a test and what they choose afterwards is not linear, because these decisions are complex. And that has complexity to patient centered counseling. As we talked about in our patient centered counseling overview. One piece, a main component is creating a trusting line of communication, so that we best understand what the patients want. And we're only as good as our understanding of what patients might want to pursue. In real life patients have a much more complicated perspective, and that makes patient centered counseling more difficult and and demands that providers have greater practice with it. One piece of context that's important is that pregnant persons have described significant trauma, or the ability to recall a specific moment or memory that they're, they describe as traumatic, resulting from provider bias at the time of fetal diagnosis. Meaning that they experienced significant distress from the way a fetal diagnosis was disclosed to them or discussed with them negatively. And additionally, most pregnant people will not meet with the genetic specialist due to the shortage of experts in the workforce which all put together means that we need generalists or non specialists to be better skilled in patient centered counseling, because we are, because a lot of pregnant people won't get a chance to see a specialist and because their decision making processes, even more complex than that that we see in in modules or cases. I think discussing the social context also requires discussing the impact of the, the dobs decision last year, which significantly adds challenge to understanding patient values and experiences, which is a huge part of patient centered counseling that you've discussed. And that's mostly due to fear of retaliation providers are less likely to inquire or document certain key points of history. Since the dobs decision for fear of retaliation patients are also more likely to withhold information about their medical history or their values for similar fear of retaliation. This also adds another layer of complexity in that anti termination provider bias can also play a competing role in the discussion. Both of and play an inappropriate role as well from from patient centeredness perspective. So next steps from this study. My perspective, first is deploying these free online evidence based trainings to clinical institutions. These being free and online allows us to create a very easy setup for deploying and such a training and quickly improving clinical recommendations. Our next step is expanding we're currently starting a qualitative study of essays written by pre clinical medical students who took this module. To evaluate their biases against pregnant persons with disability and that our sense is to determine both the degree to which the learning from the module continues through time, but also to evaluate more in depth. How biases might come into play in a context where we're giving participants a chance to use their own words. And lastly, we hope to start serious reform and help providers unlearn these bias patterns that are playing out as seemingly true traumatic experiences for patients and directive experiences that are remembered by patients, negatively for a long time. So with that, I would like to acknowledge all these these fantastic people who have helped me make this talk possible. And I think we'll we'll take questions. If there are any. There is a question in the chat right now. And it's talking about the slide where you had the two different possibilities where the patient would consider termination or would not consider termination. And the, the questioner is asking the guidelines are saying to emphasize follow up testing whereas our slide was saying must. And their question was why the difference in language. Um, emphasize or should. Let me go to the slide. Oh, I see. Um, I, to me, I think the must and the should are saying the same thing. It's a patient must not get testing, but a provider must suggest or recommend testing. Um, and I think maybe the difference in language is getting at providers must recommend so that end state patients should should consider testing, because that sounds like what's most consistent with with their, their decision making process. And I would add to in the guidelines they're talking about the distinction between screening and testing. And so the, in the case, the elevated risk as determined by the screen is just that it's a risk. It's not a confirmatory testing results. So it suggests that there's an elevated risk that the fetus may be born with a disability, but it does not say that definitively. And as the provider, if somebody is considering termination, you don't want them to terminate based on an elevated risk. You want them to terminate based on definitive information. So that's really what the must language is getting at is distinguishing between that elevated risk screen and something that's more of a confirmation based test. Hope that helps. And folks are welcome to add additional questions in the chat as well. Just a minute in case folks are typing. What was the result of the polls. I believe could you share how this. Yes, I'll try. Let's see. Is it visible. Yes, it's coming through on my end. Amazing. Okay, so for the first question, it looks like we prefer to offer but neither recommend or discourage prenatal testing where I think we would say maybe. Prenatal testing and recommending prenatal testing for this family might be slightly more appropriate. And then for the second question. A vast majority of us seem to agree that this family should be offered prenatal testing and interestingly I think for neither question did anybody say discourage or strongly discourage prenatal testing which is very important. The second results didn't show up for us for some reason. Oh my okay let's try again. Stop. Oh, I can only share one at a time. Here we go. Share results. So the second one 75% of people suggesting offer, but neither recommend or discourage prenatal testing. And now we're able to do it. Thank you for sharing those results. And this is pretty well in line with what we saw among people who had some expertise in our, in our results, our study. But I think in prior people's work we see that there actually are folks who will discourage testing, and that's more of the, as Apollon coined the term the provider centered kind of counseling. Well, if there aren't any other questions, then we thank you all for your attention and thank you Apollon for doing an outstanding job walking us through these important questions. We direct everyone to make use of the module it's freely available if you'd like to use it in your professional training settings or classrooms, we would be delighted. It's freely available and you can follow the QR code and the link is also available in the chat. And for folks who are interested in further information, this whole module also covers not only intellectual disability but also physical disability. So those results from the physical disability study is published in the link that I've shared in chat as well. So thank you to all, we're so glad that you were able to join us and hope you take advantage of many of the other outstanding educational events that are part of health care providers education and genomics week. Thank you. Thank you. And if she made that that if anyone wants to join the disability bias group of the IACC reach out to us to show me that we're myself. And of course for the organizers that you'll be welcome to join and have more conversations in the future. Thank you Maya and thank you all. Thank you everyone. And thank you.