The Power of Disclosure: How Explaining Risk of Alzheimer's Disease Impacts Life Afterward

In the advancing field of dementia research, the rise in genetic and biomarker testing for Alzheimer’s disease creates a need for conversations around how to disclose disease risk to research participants who may be years away from experiencing the symptoms of the disease. Guest Dr. Shana Stites discusses her research that examines public perception of the disease, associated stigma and discrimination, and how the research and medical communities can support people who learn about their Alzheimer’s disease risk profile. Guest: Shana D. Stites, PsyD, MS, Penn Memory Center, University of Pennsylvania Health System

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Doctor Shana Stites
Dr. Shana Stites

Show Notes

Dr. Chin and Dr. Stites referred to the following two research studies during the interview:

Awareness of Mild Cognitive Impairment and Mild Alzheimer's Disease Dementia Diagnoses Associated With Lower Self-Ratings of Quality of Life in Older Adults.

What Features of Stigma Do the Public Most Commonly Attribute to Alzheimer’s Disease Dementia? Results of a survey of the U.S. general public


Nathaniel Chin: I'm on location at Penn Memory Center in Philadelphia, Pennsylvania. My guest is Dr. Shana Stites, a clinical psychologist and researcher with the Penn Memory Center. Dr. Sites studies the ethical, legal, and social challenges that accompany medical advancements, including how early diagnosis of Alzheimer's disease affects people with the disease and their families. Dr. Stites, welcome to Dementia Matters and thank you for being our guest today.

Shana Stites: Thank you. Thank you for having me.

Nathaniel Chin: With advances in brain imaging technology that give us a look inside the brain like never before, we're able to diagnose the changes of Alzheimer's disease in people who are healthy and without symptoms. So let's start by having you explain how that advancement changes the experience of Alzheimer's disease.

Shana Stites: Well, so I think it changes it in a few different ways. Probably most clearly in this is that individuals are finding out a biological risk that they can go on to later develop Alzheimer's disease while still being cognitively typical — unimpaired. And so they're being diagnosed or identified earlier in their lives while they're still in the workforce, raising families, and maybe not even thinking so much about these things that might be coming down the road later for them. And so how does having this knowledge impact one's daily life and expectations for the future?

Nathaniel Chin: So there are a lot more questions that we are going to need to be asking if this goes forward.

Shana Stites: Yes. And I hope the researchers are asking those questions as well as the clinicians and the individuals who are considering undergoing this testing.

Nathaniel Chin: And I just wanted to clarify it because right now when you say diagnosis, it's really a research diagnosis. It's not a clinical one.

Shana Stites: Yes. So that was part of what I was getting at when I used the word diagnosis and identify. Because in research people are being identified — not necessarily diagnosed, but identified — with these genes or biomarkers of Alzheimer's disease. The way forward is there's definitely this new technology and these new advancements that may impact how clinical practice happens in the future, where diagnosis is made.

Nathaniel Chin: That is really well said. And I haven't heard the "identify," but you're right. And I think it's really important for us to have those clear distinctions because a research center is not a clinical center.

Shana Stites: That's right. We need people who are willing to come in and undergo this testing, and in many cases learn the results, so then they can appropriately consent to participate in research studies, many of which are, we call them prevention trials, that are testing new therapies with the hope that one of those therapies will work to modify the disease and slow its progression.

Nathaniel Chin: One of the things you look at in your research is stigma. And I'm wondering if you can explain for us what Alzheimer's stigma, the experience, looks like or feels like.

Shana Stites: Well, that's a tricky question because it can look like and feel like a lot of different things. It's very broad and all encompassing. It can be in the form of internalized stigma, which is, for instance, you learn that you have a diagnosis of Alzheimer's disease. And that comes with a set of expectations. What does a person who has Alzheimer's disease look like? And you think about that in terms of what does that mean for yourself. Will you suffer depression, cognitive failures? Will you let people down in your life? And some of those negative feelings can become internalized to you, and that's a sense of internalized stigma. Other ways it can be public stigma, which is if someone was to learn that information about you or even just jumped to a conclusion that you had Alzheimer's disease, how might they judge you differently? If you went for a job interview and they thought these things about you, would they hire you? If you were employed and they thought these things about you, might they push you to retire early or to discontinue your work? Might your adult children become more paternalistic in how they act toward you? So it can really look and feel a lot of different ways. I want to say it's also beyond the individual who's immediately effected by the disease, and it can really dramatically affect caregivers and family members. When people learn that you have a family member with Alzheimer's disease, they might treat you differently, they may ask you sort of offensive questions. They might think of you as giving up parts of your life in ways for someone else and make judgments around whether or not they think you should be doing that. And those are all forms of stigma.

Nathaniel Chin: So who experiences stigma? Is it everyone, or is it certain types of people that might feel it the most?

Shana Stites: Another great question. I think, from the patients that I've talked to, everyone with an Alzheimer's disease diagnosis or is considering going in to be evaluated, caregivers, family members ... all sort of have the opportunity — and I don't mean that necessarily in a positive way — but there's a chance there that they may experience stigma. Some people, when they start to experience [stigma], immediately push back against it and they're like, I saw that thing there and I've decided I will not be part of it. Where other people, it's not quite so easy to be able to push back and change it.

Nathaniel Chin: A study you did in July 2018 — and I'll have a link for it on the website — looked at the public's perception and beliefs about Alzheimer's disease dementia. Now how did you conduct that study and what did you find?

Shana Stites: So this was a web-based experiment. It was a factorial design where we went out through an online system to identify a sample at random as possible of individuals in the general public who would be willing to complete our study. People read some information about the study, they consented, and then following consent they were asked to read a story about a person. And in some cases we said that the person they read about had an Alzheimer's disease diagnosis. In another set of conditions, a person might have read that the individual in the vignette had a diagnosis of traumatic brain injury. And there was a third scenario where they might've read the symptoms that were all the same across all the vignettes, but in this case they weren't told the person had any diagnosis at all. And then we varied those things one more time, so one of three cognitive diagnoses, and then there could have been one of three prognoses. So in the case of a person, this person, they were told the person has Alzheimer's disease and that their condition would get worse over time. Another scenario would be the person had Alzheimer's disease, but their condition really wouldn't change much over time. And then the third one was that they had Alzheimer's disease and their condition might actually improve over time. And we used that "improve," "stay the same," "get worse" across each of those three diagnostic categories.

Nathaniel Chin: So three different scenarios with three different potential outcomes. And then you shared one of those scenarios — the complete one — with the public and then assessed their response.

Shana Stites: Yes. So in all, it would be nine scenarios, three levels of diagnosis — Alzheimer's disease, traumatic brain injury, no diagnosis — multiplied by three different prognostic categories — the person's condition would stay the same, it would get worse, it would get better. So when we randomized members of the general public who consented to be part of our study, they read one of those nine conditions.

Nathaniel Chin: And then you analyze their responses.

Shana Stites: That's correct. Following after they read the scenario that we gave them, we asked them to answer a whole bunch of questions, and some of those questions were around beliefs and expectations that they had related to the person they read about. Some of the questions were around what they thought how others would react to that person. And then we asked some demographic questions as well as people's experience with being around individuals who had traumatic brain injury, Alzheimer's disease, other cognitive problems, and the degree to which they might've provided care for them.

Nathaniel Chin: And what did you find?

Shana Stites: Oh, we've been analyzing that data for quite a while. And we found lots of interesting things. In the particular paper you were referencing, one of the things that came out was that the beliefs that we carry about another individual impact how we view, and the judgments we make of that person — seems to make sense, right? In this study, it came out that people who believed more strongly that Alzheimer's disease was a mental illness rather than had weaker beliefs that Alzheimer's disease was a mental illness, actually over interpreted the symptoms in the vignette. They thought they were worse than other people.

Nathaniel Chin: Wow. Well, so knowing that the beliefs we have about a certain condition will influence how we interpret what we see in other people could really affect what we want to learn about ourselves, knowing that this could happen to us.

Shana Stites: Yeah, I think that's right. I mean, if we have a strong belief that Alzheimer's disease is a mental illness, and connected with that is the perception that symptoms are pretty bad, it could impact our willingness or our openness to going and learning a gene or biomarker result.

Nathaniel Chin: So I want to change gears and ask about discrimination because are people protected from discrimination if they learn, for instance, their genetic risk profile for Alzheimer's or in particular learning about a biomarker like amyloid ... are they in any way in danger of something because of that?

Shana Stites: So here in the United States, our legal system is very reactionary. It's always catching up to the advances that are happening. And we're seeing that with advances in gene and biomarker diagnosis of Alzheimer's disease, there is a policy protection for learning genetic information. It's called [Genetic Information Nondiscrimination Act] GINA for short. And we have an article that we can post that talks a little bit about that. And that policy protects against the disclosure of genetic information. So if you learn your gene results, there are now legal protections that say others can't share that information. Others, like insurance companies, medical providers. We're not yet there for biomarkers, and there's a difference between a gene and a biomarker result. So when someone learns their amyloid result, for instance, or tau, those are biomarkers and we currently have no policies in place to protect people who learn that information from having their information shared with others or having that information used in ways that might be problematic, such as applying for longterm care insurance.

Nathaniel Chin: Now, you did a study in 2017 showing that awareness of one's diagnosis of mild cognitive impairment or early dementia led to lower scores of quality of life compared to those who didn't know. So how do we reconcile this finding with the fact that many of our unimpaired individuals in research want to learn their amyloid status?

Shana Stites: So this is our history catching up with our present and moving into our future. How about that for a synopsis? Oftentimes a diagnosis is given, it's told to the patient, and that's pretty much the end of it — then it moves into issues around care management and how do we move forward. And there's not that much discussion on like, what does it mean to now have this information. And what are the things that we can do to address some of the concerns that might be happening here, or just the emotional impact on wellbeing and quality of life that results as a consequence of this new information that's come to us. The advances around gene and biomarker diagnosis are sort of forcing or sort of creating with them a discussion around the topic of disclosure. What does it mean to disclose a test result, a diagnosis, to a patient or to just a person in general. And what does it take to have an appropriate process in place to make that disclosure. As part of a disclosure process, you would want it standardized, and you would want to know from an evidence-based scientific perspective, what are the key elements that have to be touched upon when you share that information. It's more than just the test result itself, but it starts even before that test, when we ask somebody, are you ready to learn this information and why do you want to know this information. What would be your intention for using this information and let's help you think through all of the ways that this information may change what you know about yourself. After there is that conversation there may be — if a person wants to still know what the result is — to learn the results and then there's more conversations to happen after that. I'm going back to the introduction. I am a clinical psychologist, and I'm always looking for interventions for ways to move the things that we can move. And what the results of this study showed me is that these are movable intervention points. These are people that they're experiencing a lower quality of life and possibly depression and anxiety because there's an uncertainty in the situation they're in. There are maybe symptoms that they're experiencing that they don't quite understand, and that's perfectly reasonable and there are ways that we can talk about that and change those things. And so maybe quality of life doesn't have to go down if we have the right processes in place to address it.

Nathaniel Chin: You're touching on a lot of logistical and ethical concerns that are raised often when people ask about their amyloid status. And these are often being asked by people who are not recognizing any memory or thinking changes, so people who are what we would call unpaired. But we do know from other research that having amyloid, having an elevated level of amyloid in the brain, is a risk factor for disease. So I wonder, flipping this, is there any ethical concern in not disclosing to a participant their increased risk?

Shana Stites: Yes, I think there is. It seems a little bit like a double-edged sword, and that's why it really takes a strong provider-patient relationship or research patient participant relationship to come to a place where people can make an informed decision and express their autonomy of like, I want to know this information or I don't and have that decision respected. If somebody knows or learns this information about themselves, there may be utility in that, that informs what decisions they're going to make. How long do they stay employed? Do they downsize their house? What sort of financial decisions might be attached to this? How do they talk, if it's a genetic test, how do they talk to their children? And not sharing that information is depriving people of the ability to make those choices and have those options.

Nathaniel Chin: So it seems though before we even get to that part, we really have to do our due diligence in creating a standardized, methodical, thoughtful, comprehensive approach in the research center.

Shana Stites: Yes, with the expectation that what we learn from doing that in research will help us move forward into routine practice and doing that in a safe and effective way.

Nathaniel Chin: So I want to end with a bit of a trickier question because your study in 2017 really struck me about the lower scores and quality of life since I'm doing a lot of diagnosis disclosure to my patients. So on one side you have this saying that ignorance is bliss, which in essence your study tended to support. But on the other side you have this age old saying of knowledge is power. And so which do you think it is?

Shana Stites: And, you know, and it might just be an artifact of who I am; I tend to go on the knowledge is power perspective. Because what will happen is going to happen whether we know or we don't know about it.

Nathaniel Chin: And I'm in your camp. So I guess my follow-up question to that is, well, what can we do in research and in healthcare to really empower people so that when they learn this information, that something positive can come from it.

Shana Stites: I think that's what takes us back into our research and why people participating in research is so important, is we're learning from them, from these people who are the pioneers, who are stepping into a very unknown and sort of uncertain space to learn this information. They're then telling us as scientists and researchers what their experiences are. How did they use the information, what were negative and positive consequences of it that we may not be able to foresee, because we haven't done this. But from their lived experiences, what was good about this and what was bad about it? And we can use that information to then inform what happens in the future and helping other people think through, even before they get the testing, whether or not they want the testing. And if they go on to get the testing and learn the results, how they might want to use that information as power in their lives.

Nathaniel Chin: Research participants as pioneers. I love it. I'm going to use that expression in this podcast. Thank you.

Shana Stites: You're welcome, and I stand by it wholeheartedly.

Nathaniel Chin: Well, thank you for being on this podcast today and we do hope to have you on as more studies are being done.

Shana Stites: Thank you. I would love that. It has been a pleasure.