Shana D. Stites, PsyD, MS, MA

Advances in Alzheimer disease (AD) genes and biomarkers now allow older adults to undergo testing and learn about their risk for AD.¹ Current routes for doing so include testing in cardiology, screening for enrollment in secondary prevention trials (which use these tests to determine trial eligibility),² and direct-to-consumer (DTC) services that provide these results as part of large panels.³ Patients may also obtain apolipoprotein (APOE) genotype information as part of an assessment of the risks and benefits of treatment with aducanumab (Aduhelm) or other anti-amyloid therapies that have been developed to stop or slow the progression of AD pathologies.

Expanded access to testing, in combination with limited guidance from DTC companies, suggests more older adults may consult their primary care physicians about this testing. In this narrative review, we use a vignette-driven approach to summarize the current scientific knowledge of the topic and to offer guidance on provider-patient discussions and follow-up.

First, a look at APOE genotyping

In cognitively unimpaired older adults, the APOE gene is a known risk factor for mild cognitive impairment (MCI) or AD.³ A person has 2 alleles of the APOE gene, which has 3 variants: ε2, ε3, and ε4. The combination of alleles conveys varying levels of risk for developing clinical symptoms (TABLE 1⁴), with ε4 increasing risk and ε2 decreasing risk compared to the more common ε3; thus the ε4/ε4 genotype conveys the most risk and the ε2/ε2 the least.

The APOE gene differs from other genes that have been identified in early-onset familial AD. These other genes, which include APP, PSEN1, and PSEN2, are deterministic genes that are fully penetrant. The APOE gene is not deterministic, meaning there is no combination of APOE alleles that are necessary or sufficient to cause late-onset AD dementia.

In clinical trials of amyloid-modifying therapies, the APOE gene has been shown to convey a risk of amyloid-related imaging abnormalities (ARIA).⁵ That is, in addition to conveying a risk for AD, the gene also conveys a risk for adverse effects of emerging treatments that can result in serious injury or death. This includes the drug aducanumab that was recently approved by the US Food and Drug Administration (FDA).⁶ In this review, we focus primarily on common clinical scenarios related to APOE. However, in light of the recent controversy over aducanumab and whether the drug should be offered to patients,^7-9 we also describe how a patient’s APOE genotype may factor into drug candidacy decisions.

Testing, in clinic and “at home.” To date, practice guidelines have consistently recommended against APOE genetic testing in routine clinical practice. This is primarily due to low clinical prognostic utility and the lack of actionable results. Furthermore, no lifestyle or pharmaceutical interventions based on APOE genotype currently exist (although trials are underway¹⁰).

In 2017, the FDA approved marketing of DTC testing for the APOE gene.¹¹ While DTC companies tend to issue standardized test result reports, the content and quality can vary widely. In fact, some provide risk estimates that are too high and too definitive and may not reflect the most recent science.¹²

Continue to: 7 clinical scenarios and how to approach them

7 clinical scenarios and how to approach them

Six of the following vignettes describe common clinical scenarios in which patients seek medical advice regarding APOE test results. The seventh vignette describes a patient whose APOE genotype may play a role in possible disease-modifying treatments down the road. Each vignette is designed to guide your approach to patient discussions and follow-up. Recommendations and considerations are also summarized in TABLE 2^13-16.

Vignette 1

Janet W, age 65, comes to the clinic for a new patient visit. She has no concerns about her memory but recently purchased DTC genetic testing to learn about her genetic health risks. Her results showed an APOE ε4/ε4 genotype. She is now concerned about developing AD. Her mother was diagnosed with AD in her 70s.

Several important pieces of information can be conveyed by the primary care physician. First, patients such as Ms. W should be told that the APOE gene is not deterministic; many people, even those with 2 ε4 alleles, never develop dementia. Second, no specific preventive measures or treatments exist based on an individual’s APOE genotype (see Vignette 5 for additional discussion).

In this scenario, patients may ask for numeric quantification of their risk for dementia (see TABLE 1⁴ for estimates). When conveying probabilistic risk, consider using simple percentages or pictographs (eg, out of 100 individuals with an ε4/ε4 genotype, 30 to 55 develop MCI or AD). Additionally, because people tend to exhibit confirmatory bias in thinking about probabilistic risk, providing opposing interpretations of an estimate may help them to consider alternative possibilities.¹⁷ For example, ε4/ε4 individuals have a 30% to 55% risk for MCI or AD. Alternatively, they have a 45% to 70% risk of not developing MCI or AD.

There are important caveats to the interpretation of APOE risk estimates. Because APOE risk estimates are probabilistic and averaged across a broader spectrum of people in large population cohorts,⁴ estimates may not accurately reflect a given individual’s risk. The ranges reflect the uncertainty in the estimates. The uncertainty arises from relatively small samples, the rareness of some genotypes (notably ε4/ε4) even in large samples, and variations in methods and sampling that can lead to differences in estimates beyond statistical variation.

Vignette 2

Eric J, age 85, presents for a new patient visit accompanied by his daughter. He lives independently, volunteers at a senior center several times a week, and exercises regularly, and neither he nor his daughter has any concerns about his memory. As a gift, he recently underwent DTC genetic testing and unexpectedly learned his APOE result, which is ε4/ε4. He wants to know about his chances of developing AD.

Risk conveyed by APOE genotype can be modified by a patient’s age. At age 85, Mr. J is healthy, highly functional, and cognitively unimpaired. Given his age, Mr. J has likely “outlived” much of the risk for dementia attributable to the ε4/ε4 genotype. His risk for dementia remains high, but this risk is likely driven more by age than by his APOE genotype. Data for individuals older than age 80 are limited, and thus risk estimates lack precision. Given Mr. J’s good health and functional status, his physician may want to perform a brief cognitive screening test to serve as a baseline for future evaluations.

Continue to: Vignette 3

Vignette 3

Audrey S is a 60-year-old African American woman who comes to the clinic for her annual visit. Because her father had AD, she recently purchased DTC genetic testing to learn about her APOE genotype and risk for AD. Her results are ε3/ε4. She is wondering what this may mean for her future.

Lack of diversity in research cohorts often limits the generalizability of estimates. For example, both the frequency and impact of APOE ε4 differ across racial groups.¹⁸ But most of the data on APOE lifetime risk estimates are from largely White patient samples. While APOE ε4 seems to confer increased risk for AD across sociocultural groups, these effects may be attenuated in African American and Hispanic populations.^19,20 If Ms. S is interested in numeric risk estimates, the physician can provide the estimate for ε3/ε4 (20%-25% lifetime risk), with the important caveat that this estimate may not be reflective of her individual risk.

Both the frequency and impact of APOE ε4 differ across racial groups, but most of the data on APOE lifetime risk estimates are from largely White patient samples.

It may be prudent to determine whether Ms. S, at age 60, has subjective memory concerns and if she does, to perform a brief cognitive exam to serve as a baseline for future evaluations. Additionally, while the Genetic Information Nondiscrimination Act (GINA, 2008) prohibits health insurers and employers from discriminating based on genetic testing results, no legal provisions exist regarding long-term care, disability, or life insurance. Documented conversations about APOE test results in the medical record may become part of patients’ applications for these insurance products, and physicians should be cautious before documenting such discussions in the medical record.

Vignette 4

Tina L, age 60, comes to the clinic for a routine wellness visit. She recently developed an interest in genealogy and purchased a DNA testing kit to learn more about her family tree. As part of this testing, she unexpectedly learned that she has an APOE ε4/ε4 genotype. She describes feeling distraught and anxious about what the result means for her future.

Ms. L’s reaction to receiving unexpected genetic results highlights a concern of DTC APOE testing. Her experience is quite different from individuals undergoing medically recommended genetic testing or those who are participating in research studies. They receive comprehensive pre-test counseling by licensed genetic counselors. The counseling includes psychological assessment, education, and discussion of expectations.²

In Ms. L’s case, it may be helpful to explain the limits of APOE lifetime risk estimates (see Vignettes 1-3). But it’s also important to address her concerns. There are behavior scales that can aid the assessment and monitoring of an individual’s well-being. The Impact of Genetic Testing for Alzheimer’s Disease (IGT-AD) scale is a tool that assesses psychological impact. It can help physicians to identify, monitor, and address concerns.²¹ Other useful tools include the Patient Health Questionnaire-9 (PHQ-9) and the Geriatric Depression Scale (GDS) for depression, and a suicide or self-harm assessment.^2,22,23 Finally, a follow-up visit at 2 to 4 weeks may be useful to reassess psychological well-being.

Vignette 4 (cont’d)

Ms. L returns to the clinic 2 weeks later, reporting continued anxiety about her APOE test result and feelings of hopelessness and despair.

Continue to: Some patients struggle...

Some patients struggle with knowing their APOE test result. Test result–related distress is often a combination of depression (as with Ms. L), anger, confusion, and grief.²⁴ Cognitions often include worries about uncertainty, stereotyped threat, and internalized stigma.^25,26 These issues can spill over to patient concerns about sharing an APOE test result with others.²⁷

Intolerance of uncertainty is a transdiagnostic risk factor that can influence psychological suffering.²⁸ Brief cognitive behavioral interventions that reinforce routines and encourage healthy and mindful practices may help alleviate patient distress from unexpected genetic test results.²⁹ Interventions that personalize and validate an individual’s experience can help address internalized stigma.³⁰ Referral to a psychologist or psychiatrist could be warranted. Additionally, referral to a genetic counselor may help provide patients with access to added expertise and guidance; useful web-based resources for identifying an appropriate referral include https://medlineplus.gov/genetics/­understanding/consult/findingprofessional/ and https://findageneticcounselor.nsgc.org/.

Vignette 5

Bob K, age 65, comes to the clinic for his annual exam. He is a current smoker and says he’s hoping to be more physically active now that he is retired. He says that his mother and grandmother both had AD. He recently purchased DTC genetic testing to learn more about his risk for AD. His learned his APOE genotype is ε3/ε4 and is wondering what he can do to decrease his chances of developing AD.

Mr. K likely would have benefited from pre-test counseling regarding the lack of current therapies to modify one’s genetic risk for AD. A pre-test counseling session often includes education about APOE testing and a brief evaluation to assess psychological readiness to undergo testing. Posttest educational information may help Mr. K avoid predatory advertising of products claiming—without scientific evidence—to modify risk for cognitive decline or to improve cognitive function.

Emerging evidence from RCTs suggests that healthy lifestyle modifications may benefit cognition in individuals with APOE ε4 alleles.

There are several important pieces of information that should be communicated to Mr. K. Emerging evidence from randomized controlled trials suggests that healthy lifestyle modifications may benefit cognition in individuals with APOE ε4 alleles.³¹ It would be prudent to address proper blood pressure control³² and counsel Mr. K on how he may be able to avoid diabetes through exercise and weight maintenance. Lifestyle recommendations for Mr. K could include: smoking cessation, regular aerobic exercise (eg, 150 min/wk), and a brain-healthy diet (eg, the Mediterranean-DASH Intervention for Neurodegenerative Delay [MIND] diet).^13,14 Moreover, dementia prevention also includes appropriately managing depression and chronic illnesses and preventing social isolation and hearing loss.^15,16 This information should be thoughtfully conveyed, as these interventions can improve overall (especially cardiovascular) health, as well as mitigating one’s personal risk for AD.

Vignette 6

Juan L, age 45, comes in for his annual physical exam. He has a strong family history of heart disease. His cardiologist recently ordered lipid disorder genetic testing for familial hypercholesterolemia. This panel included APOE testing and showed Mr. L’s genotype is ε2/ε4. He read that the APOE gene can be associated with an increased AD risk and asks for information about his genotype.

Mr. L received genetic testing results that were ordered by a physician for another health purpose. Current recommendations for genetic testing in cardiology advise pre-test genetic counseling.³³ But this counseling may not include discussion of the relationship of APOE and risk for MCI or AD. This additional information may be unexpected for Mr. L. Moreover, its significance in the context of his present concerns about cardiovascular disease may influence his reaction.

Continue to: The ε2/ε4 genotype...

The ε2/ε4 genotype is rare. One study showed that in healthy adults, the frequency was 7 in 210 (0.02 [0.01-0.04]).³⁴ Given the rarity of the ε2/ε4 genotype, data about it are sparse. However, since the ε4 allele increases risk but the ε2 allele decreases risk, it is likely that any increase in risk is more modest than with ε3/ε4. In addition, it would help Mr. L to know that AD occurs infrequently before age 60.³⁵ Given his relatively young age, he is unlikely to develop AD any time in the near future. In addition, particularly if he starts early, he might be able to mitigate any increased risk through some of the advice provided to Mr. K in Vignette 5.

Vignette 7

Joe J, age 65, comes to the clinic for a new patient visit. He has no concerns about his memory but has a family history of dementia and recently purchased DTC genetic testing to learn about his genetic health risks. His results showed an APOE ε4/ε4 genotype. He is concerned about developing AD. He heard on the news that there is a drug that can treat AD and wants to know if he is a candidate for this treatment.

Mr. J would benefit from the education provided to Ms. W in Vignette 1. Patients such as Mr. J should be advised that while an APOE ε4/ε4 genotype conveys an increased risk for AD, it is not deterministic of the disease. While there are no specific preventive measures or treatments based on APOE genotype, careful medical care and lifestyle factors can offset some of the risk (see Vignette 5 for discussion).

One reason for the aducanumab controversy is that the drug has potenially severe adverse effects.

Recently (and controversially), the FDA approved aducanumab, a drug that targets amyloid.^6,36 Of note, brain amyloid is more common in individuals with the APOE ε4/ε4 genotype, such as Mr. J. However, there would be no point in testing Mr. J for brain amyloid because at present the drug is only indicated in symptomatic individuals—and, even in this setting, it is controversial. One reason for the controversy is that aducanumab has potentially severe adverse effects. Patients with the ε4/ε4 genotype should know that this genotype carries increased risk for the most serious adverse event, ARIA—which can include brain edema and microhemorrhages.

What lies ahead?

More research is needed to explore the impact that greater AD gene and biomarker testing will have on the health system and workforce development. In addition, graduate schools and training programs will need to prepare clinicians to address probabilistic risk estimates for common diseases, such as AD. Finally, health systems and medical groups that employ clinicians may want to offer simulated training—similar to the vignettes in this article—as a practice requirement or as continuing medical education. This may also allow health systems or medical groups to put in place frameworks that support clinicians in proactively answering questions for patients and families about APOE and other emerging markers of disease risk.

CORRESPONDENCE
Shana Stites, University of Pennsylvania, 3615 Chestnut Street, Philadelphia, PA 19104; Stites@UPenn.edu

Advances in Alzheimer disease (AD) genes and biomarkers now allow older adults to undergo testing and learn about their risk for AD.¹ Current routes for doing so include testing in cardiology, screening for enrollment in secondary prevention trials (which use these tests to determine trial eligibility),² and direct-to-consumer (DTC) services that provide these results as part of large panels.³ Patients may also obtain apolipoprotein (APOE) genotype information as part of an assessment of the risks and benefits of treatment with aducanumab (Aduhelm) or other anti-amyloid therapies that have been developed to stop or slow the progression of AD pathologies.

Expanded access to testing, in combination with limited guidance from DTC companies, suggests more older adults may consult their primary care physicians about this testing. In this narrative review, we use a vignette-driven approach to summarize the current scientific knowledge of the topic and to offer guidance on provider-patient discussions and follow-up.

First, a look at APOE genotyping

In cognitively unimpaired older adults, the APOE gene is a known risk factor for mild cognitive impairment (MCI) or AD.³ A person has 2 alleles of the APOE gene, which has 3 variants: ε2, ε3, and ε4. The combination of alleles conveys varying levels of risk for developing clinical symptoms (TABLE 1⁴), with ε4 increasing risk and ε2 decreasing risk compared to the more common ε3; thus the ε4/ε4 genotype conveys the most risk and the ε2/ε2 the least.

The APOE gene differs from other genes that have been identified in early-onset familial AD. These other genes, which include APP, PSEN1, and PSEN2, are deterministic genes that are fully penetrant. The APOE gene is not deterministic, meaning there is no combination of APOE alleles that are necessary or sufficient to cause late-onset AD dementia.

In clinical trials of amyloid-modifying therapies, the APOE gene has been shown to convey a risk of amyloid-related imaging abnormalities (ARIA).⁵ That is, in addition to conveying a risk for AD, the gene also conveys a risk for adverse effects of emerging treatments that can result in serious injury or death. This includes the drug aducanumab that was recently approved by the US Food and Drug Administration (FDA).⁶ In this review, we focus primarily on common clinical scenarios related to APOE. However, in light of the recent controversy over aducanumab and whether the drug should be offered to patients,^7-9 we also describe how a patient’s APOE genotype may factor into drug candidacy decisions.

Testing, in clinic and “at home.” To date, practice guidelines have consistently recommended against APOE genetic testing in routine clinical practice. This is primarily due to low clinical prognostic utility and the lack of actionable results. Furthermore, no lifestyle or pharmaceutical interventions based on APOE genotype currently exist (although trials are underway¹⁰).

In 2017, the FDA approved marketing of DTC testing for the APOE gene.¹¹ While DTC companies tend to issue standardized test result reports, the content and quality can vary widely. In fact, some provide risk estimates that are too high and too definitive and may not reflect the most recent science.¹²

Continue to: 7 clinical scenarios and how to approach them

7 clinical scenarios and how to approach them

Six of the following vignettes describe common clinical scenarios in which patients seek medical advice regarding APOE test results. The seventh vignette describes a patient whose APOE genotype may play a role in possible disease-modifying treatments down the road. Each vignette is designed to guide your approach to patient discussions and follow-up. Recommendations and considerations are also summarized in TABLE 2^13-16.

Vignette 1

Janet W, age 65, comes to the clinic for a new patient visit. She has no concerns about her memory but recently purchased DTC genetic testing to learn about her genetic health risks. Her results showed an APOE ε4/ε4 genotype. She is now concerned about developing AD. Her mother was diagnosed with AD in her 70s.

Several important pieces of information can be conveyed by the primary care physician. First, patients such as Ms. W should be told that the APOE gene is not deterministic; many people, even those with 2 ε4 alleles, never develop dementia. Second, no specific preventive measures or treatments exist based on an individual’s APOE genotype (see Vignette 5 for additional discussion).

In this scenario, patients may ask for numeric quantification of their risk for dementia (see TABLE 1⁴ for estimates). When conveying probabilistic risk, consider using simple percentages or pictographs (eg, out of 100 individuals with an ε4/ε4 genotype, 30 to 55 develop MCI or AD). Additionally, because people tend to exhibit confirmatory bias in thinking about probabilistic risk, providing opposing interpretations of an estimate may help them to consider alternative possibilities.¹⁷ For example, ε4/ε4 individuals have a 30% to 55% risk for MCI or AD. Alternatively, they have a 45% to 70% risk of not developing MCI or AD.

There are important caveats to the interpretation of APOE risk estimates. Because APOE risk estimates are probabilistic and averaged across a broader spectrum of people in large population cohorts,⁴ estimates may not accurately reflect a given individual’s risk. The ranges reflect the uncertainty in the estimates. The uncertainty arises from relatively small samples, the rareness of some genotypes (notably ε4/ε4) even in large samples, and variations in methods and sampling that can lead to differences in estimates beyond statistical variation.

Vignette 2

Eric J, age 85, presents for a new patient visit accompanied by his daughter. He lives independently, volunteers at a senior center several times a week, and exercises regularly, and neither he nor his daughter has any concerns about his memory. As a gift, he recently underwent DTC genetic testing and unexpectedly learned his APOE result, which is ε4/ε4. He wants to know about his chances of developing AD.

Risk conveyed by APOE genotype can be modified by a patient’s age. At age 85, Mr. J is healthy, highly functional, and cognitively unimpaired. Given his age, Mr. J has likely “outlived” much of the risk for dementia attributable to the ε4/ε4 genotype. His risk for dementia remains high, but this risk is likely driven more by age than by his APOE genotype. Data for individuals older than age 80 are limited, and thus risk estimates lack precision. Given Mr. J’s good health and functional status, his physician may want to perform a brief cognitive screening test to serve as a baseline for future evaluations.

Continue to: Vignette 3

Vignette 3

Audrey S is a 60-year-old African American woman who comes to the clinic for her annual visit. Because her father had AD, she recently purchased DTC genetic testing to learn about her APOE genotype and risk for AD. Her results are ε3/ε4. She is wondering what this may mean for her future.

Lack of diversity in research cohorts often limits the generalizability of estimates. For example, both the frequency and impact of APOE ε4 differ across racial groups.¹⁸ But most of the data on APOE lifetime risk estimates are from largely White patient samples. While APOE ε4 seems to confer increased risk for AD across sociocultural groups, these effects may be attenuated in African American and Hispanic populations.^19,20 If Ms. S is interested in numeric risk estimates, the physician can provide the estimate for ε3/ε4 (20%-25% lifetime risk), with the important caveat that this estimate may not be reflective of her individual risk.

Both the frequency and impact of APOE ε4 differ across racial groups, but most of the data on APOE lifetime risk estimates are from largely White patient samples.

It may be prudent to determine whether Ms. S, at age 60, has subjective memory concerns and if she does, to perform a brief cognitive exam to serve as a baseline for future evaluations. Additionally, while the Genetic Information Nondiscrimination Act (GINA, 2008) prohibits health insurers and employers from discriminating based on genetic testing results, no legal provisions exist regarding long-term care, disability, or life insurance. Documented conversations about APOE test results in the medical record may become part of patients’ applications for these insurance products, and physicians should be cautious before documenting such discussions in the medical record.

Vignette 4

Tina L, age 60, comes to the clinic for a routine wellness visit. She recently developed an interest in genealogy and purchased a DNA testing kit to learn more about her family tree. As part of this testing, she unexpectedly learned that she has an APOE ε4/ε4 genotype. She describes feeling distraught and anxious about what the result means for her future.

Ms. L’s reaction to receiving unexpected genetic results highlights a concern of DTC APOE testing. Her experience is quite different from individuals undergoing medically recommended genetic testing or those who are participating in research studies. They receive comprehensive pre-test counseling by licensed genetic counselors. The counseling includes psychological assessment, education, and discussion of expectations.²

In Ms. L’s case, it may be helpful to explain the limits of APOE lifetime risk estimates (see Vignettes 1-3). But it’s also important to address her concerns. There are behavior scales that can aid the assessment and monitoring of an individual’s well-being. The Impact of Genetic Testing for Alzheimer’s Disease (IGT-AD) scale is a tool that assesses psychological impact. It can help physicians to identify, monitor, and address concerns.²¹ Other useful tools include the Patient Health Questionnaire-9 (PHQ-9) and the Geriatric Depression Scale (GDS) for depression, and a suicide or self-harm assessment.^2,22,23 Finally, a follow-up visit at 2 to 4 weeks may be useful to reassess psychological well-being.

Vignette 4 (cont’d)

Ms. L returns to the clinic 2 weeks later, reporting continued anxiety about her APOE test result and feelings of hopelessness and despair.

Continue to: Some patients struggle...

Some patients struggle with knowing their APOE test result. Test result–related distress is often a combination of depression (as with Ms. L), anger, confusion, and grief.²⁴ Cognitions often include worries about uncertainty, stereotyped threat, and internalized stigma.^25,26 These issues can spill over to patient concerns about sharing an APOE test result with others.²⁷

Intolerance of uncertainty is a transdiagnostic risk factor that can influence psychological suffering.²⁸ Brief cognitive behavioral interventions that reinforce routines and encourage healthy and mindful practices may help alleviate patient distress from unexpected genetic test results.²⁹ Interventions that personalize and validate an individual’s experience can help address internalized stigma.³⁰ Referral to a psychologist or psychiatrist could be warranted. Additionally, referral to a genetic counselor may help provide patients with access to added expertise and guidance; useful web-based resources for identifying an appropriate referral include https://medlineplus.gov/genetics/­understanding/consult/findingprofessional/ and https://findageneticcounselor.nsgc.org/.

Vignette 5

Bob K, age 65, comes to the clinic for his annual exam. He is a current smoker and says he’s hoping to be more physically active now that he is retired. He says that his mother and grandmother both had AD. He recently purchased DTC genetic testing to learn more about his risk for AD. His learned his APOE genotype is ε3/ε4 and is wondering what he can do to decrease his chances of developing AD.

Mr. K likely would have benefited from pre-test counseling regarding the lack of current therapies to modify one’s genetic risk for AD. A pre-test counseling session often includes education about APOE testing and a brief evaluation to assess psychological readiness to undergo testing. Posttest educational information may help Mr. K avoid predatory advertising of products claiming—without scientific evidence—to modify risk for cognitive decline or to improve cognitive function.

Emerging evidence from RCTs suggests that healthy lifestyle modifications may benefit cognition in individuals with APOE ε4 alleles.

There are several important pieces of information that should be communicated to Mr. K. Emerging evidence from randomized controlled trials suggests that healthy lifestyle modifications may benefit cognition in individuals with APOE ε4 alleles.³¹ It would be prudent to address proper blood pressure control³² and counsel Mr. K on how he may be able to avoid diabetes through exercise and weight maintenance. Lifestyle recommendations for Mr. K could include: smoking cessation, regular aerobic exercise (eg, 150 min/wk), and a brain-healthy diet (eg, the Mediterranean-DASH Intervention for Neurodegenerative Delay [MIND] diet).^13,14 Moreover, dementia prevention also includes appropriately managing depression and chronic illnesses and preventing social isolation and hearing loss.^15,16 This information should be thoughtfully conveyed, as these interventions can improve overall (especially cardiovascular) health, as well as mitigating one’s personal risk for AD.

Vignette 6

Juan L, age 45, comes in for his annual physical exam. He has a strong family history of heart disease. His cardiologist recently ordered lipid disorder genetic testing for familial hypercholesterolemia. This panel included APOE testing and showed Mr. L’s genotype is ε2/ε4. He read that the APOE gene can be associated with an increased AD risk and asks for information about his genotype.

Mr. L received genetic testing results that were ordered by a physician for another health purpose. Current recommendations for genetic testing in cardiology advise pre-test genetic counseling.³³ But this counseling may not include discussion of the relationship of APOE and risk for MCI or AD. This additional information may be unexpected for Mr. L. Moreover, its significance in the context of his present concerns about cardiovascular disease may influence his reaction.

Continue to: The ε2/ε4 genotype...

The ε2/ε4 genotype is rare. One study showed that in healthy adults, the frequency was 7 in 210 (0.02 [0.01-0.04]).³⁴ Given the rarity of the ε2/ε4 genotype, data about it are sparse. However, since the ε4 allele increases risk but the ε2 allele decreases risk, it is likely that any increase in risk is more modest than with ε3/ε4. In addition, it would help Mr. L to know that AD occurs infrequently before age 60.³⁵ Given his relatively young age, he is unlikely to develop AD any time in the near future. In addition, particularly if he starts early, he might be able to mitigate any increased risk through some of the advice provided to Mr. K in Vignette 5.

Vignette 7

Joe J, age 65, comes to the clinic for a new patient visit. He has no concerns about his memory but has a family history of dementia and recently purchased DTC genetic testing to learn about his genetic health risks. His results showed an APOE ε4/ε4 genotype. He is concerned about developing AD. He heard on the news that there is a drug that can treat AD and wants to know if he is a candidate for this treatment.

Mr. J would benefit from the education provided to Ms. W in Vignette 1. Patients such as Mr. J should be advised that while an APOE ε4/ε4 genotype conveys an increased risk for AD, it is not deterministic of the disease. While there are no specific preventive measures or treatments based on APOE genotype, careful medical care and lifestyle factors can offset some of the risk (see Vignette 5 for discussion).

One reason for the aducanumab controversy is that the drug has potenially severe adverse effects.

Recently (and controversially), the FDA approved aducanumab, a drug that targets amyloid.^6,36 Of note, brain amyloid is more common in individuals with the APOE ε4/ε4 genotype, such as Mr. J. However, there would be no point in testing Mr. J for brain amyloid because at present the drug is only indicated in symptomatic individuals—and, even in this setting, it is controversial. One reason for the controversy is that aducanumab has potentially severe adverse effects. Patients with the ε4/ε4 genotype should know that this genotype carries increased risk for the most serious adverse event, ARIA—which can include brain edema and microhemorrhages.

What lies ahead?

More research is needed to explore the impact that greater AD gene and biomarker testing will have on the health system and workforce development. In addition, graduate schools and training programs will need to prepare clinicians to address probabilistic risk estimates for common diseases, such as AD. Finally, health systems and medical groups that employ clinicians may want to offer simulated training—similar to the vignettes in this article—as a practice requirement or as continuing medical education. This may also allow health systems or medical groups to put in place frameworks that support clinicians in proactively answering questions for patients and families about APOE and other emerging markers of disease risk.

CORRESPONDENCE
Shana Stites, University of Pennsylvania, 3615 Chestnut Street, Philadelphia, PA 19104; Stites@UPenn.edu

Advances in Alzheimer disease (AD) genes and biomarkers now allow older adults to undergo testing and learn about their risk for AD.¹ Current routes for doing so include testing in cardiology, screening for enrollment in secondary prevention trials (which use these tests to determine trial eligibility),² and direct-to-consumer (DTC) services that provide these results as part of large panels.³ Patients may also obtain apolipoprotein (APOE) genotype information as part of an assessment of the risks and benefits of treatment with aducanumab (Aduhelm) or other anti-amyloid therapies that have been developed to stop or slow the progression of AD pathologies.

Expanded access to testing, in combination with limited guidance from DTC companies, suggests more older adults may consult their primary care physicians about this testing. In this narrative review, we use a vignette-driven approach to summarize the current scientific knowledge of the topic and to offer guidance on provider-patient discussions and follow-up.

First, a look at APOE genotyping

In cognitively unimpaired older adults, the APOE gene is a known risk factor for mild cognitive impairment (MCI) or AD.³ A person has 2 alleles of the APOE gene, which has 3 variants: ε2, ε3, and ε4. The combination of alleles conveys varying levels of risk for developing clinical symptoms (TABLE 1⁴), with ε4 increasing risk and ε2 decreasing risk compared to the more common ε3; thus the ε4/ε4 genotype conveys the most risk and the ε2/ε2 the least.

The APOE gene differs from other genes that have been identified in early-onset familial AD. These other genes, which include APP, PSEN1, and PSEN2, are deterministic genes that are fully penetrant. The APOE gene is not deterministic, meaning there is no combination of APOE alleles that are necessary or sufficient to cause late-onset AD dementia.

In clinical trials of amyloid-modifying therapies, the APOE gene has been shown to convey a risk of amyloid-related imaging abnormalities (ARIA).⁵ That is, in addition to conveying a risk for AD, the gene also conveys a risk for adverse effects of emerging treatments that can result in serious injury or death. This includes the drug aducanumab that was recently approved by the US Food and Drug Administration (FDA).⁶ In this review, we focus primarily on common clinical scenarios related to APOE. However, in light of the recent controversy over aducanumab and whether the drug should be offered to patients,^7-9 we also describe how a patient’s APOE genotype may factor into drug candidacy decisions.

Testing, in clinic and “at home.” To date, practice guidelines have consistently recommended against APOE genetic testing in routine clinical practice. This is primarily due to low clinical prognostic utility and the lack of actionable results. Furthermore, no lifestyle or pharmaceutical interventions based on APOE genotype currently exist (although trials are underway¹⁰).

In 2017, the FDA approved marketing of DTC testing for the APOE gene.¹¹ While DTC companies tend to issue standardized test result reports, the content and quality can vary widely. In fact, some provide risk estimates that are too high and too definitive and may not reflect the most recent science.¹²

Continue to: 7 clinical scenarios and how to approach them

7 clinical scenarios and how to approach them

Six of the following vignettes describe common clinical scenarios in which patients seek medical advice regarding APOE test results. The seventh vignette describes a patient whose APOE genotype may play a role in possible disease-modifying treatments down the road. Each vignette is designed to guide your approach to patient discussions and follow-up. Recommendations and considerations are also summarized in TABLE 2^13-16.

Vignette 1

Janet W, age 65, comes to the clinic for a new patient visit. She has no concerns about her memory but recently purchased DTC genetic testing to learn about her genetic health risks. Her results showed an APOE ε4/ε4 genotype. She is now concerned about developing AD. Her mother was diagnosed with AD in her 70s.

Several important pieces of information can be conveyed by the primary care physician. First, patients such as Ms. W should be told that the APOE gene is not deterministic; many people, even those with 2 ε4 alleles, never develop dementia. Second, no specific preventive measures or treatments exist based on an individual’s APOE genotype (see Vignette 5 for additional discussion).

In this scenario, patients may ask for numeric quantification of their risk for dementia (see TABLE 1⁴ for estimates). When conveying probabilistic risk, consider using simple percentages or pictographs (eg, out of 100 individuals with an ε4/ε4 genotype, 30 to 55 develop MCI or AD). Additionally, because people tend to exhibit confirmatory bias in thinking about probabilistic risk, providing opposing interpretations of an estimate may help them to consider alternative possibilities.¹⁷ For example, ε4/ε4 individuals have a 30% to 55% risk for MCI or AD. Alternatively, they have a 45% to 70% risk of not developing MCI or AD.

There are important caveats to the interpretation of APOE risk estimates. Because APOE risk estimates are probabilistic and averaged across a broader spectrum of people in large population cohorts,⁴ estimates may not accurately reflect a given individual’s risk. The ranges reflect the uncertainty in the estimates. The uncertainty arises from relatively small samples, the rareness of some genotypes (notably ε4/ε4) even in large samples, and variations in methods and sampling that can lead to differences in estimates beyond statistical variation.

Vignette 2

Eric J, age 85, presents for a new patient visit accompanied by his daughter. He lives independently, volunteers at a senior center several times a week, and exercises regularly, and neither he nor his daughter has any concerns about his memory. As a gift, he recently underwent DTC genetic testing and unexpectedly learned his APOE result, which is ε4/ε4. He wants to know about his chances of developing AD.

Risk conveyed by APOE genotype can be modified by a patient’s age. At age 85, Mr. J is healthy, highly functional, and cognitively unimpaired. Given his age, Mr. J has likely “outlived” much of the risk for dementia attributable to the ε4/ε4 genotype. His risk for dementia remains high, but this risk is likely driven more by age than by his APOE genotype. Data for individuals older than age 80 are limited, and thus risk estimates lack precision. Given Mr. J’s good health and functional status, his physician may want to perform a brief cognitive screening test to serve as a baseline for future evaluations.

Continue to: Vignette 3

Vignette 3

Audrey S is a 60-year-old African American woman who comes to the clinic for her annual visit. Because her father had AD, she recently purchased DTC genetic testing to learn about her APOE genotype and risk for AD. Her results are ε3/ε4. She is wondering what this may mean for her future.

Lack of diversity in research cohorts often limits the generalizability of estimates. For example, both the frequency and impact of APOE ε4 differ across racial groups.¹⁸ But most of the data on APOE lifetime risk estimates are from largely White patient samples. While APOE ε4 seems to confer increased risk for AD across sociocultural groups, these effects may be attenuated in African American and Hispanic populations.^19,20 If Ms. S is interested in numeric risk estimates, the physician can provide the estimate for ε3/ε4 (20%-25% lifetime risk), with the important caveat that this estimate may not be reflective of her individual risk.

Both the frequency and impact of APOE ε4 differ across racial groups, but most of the data on APOE lifetime risk estimates are from largely White patient samples.

It may be prudent to determine whether Ms. S, at age 60, has subjective memory concerns and if she does, to perform a brief cognitive exam to serve as a baseline for future evaluations. Additionally, while the Genetic Information Nondiscrimination Act (GINA, 2008) prohibits health insurers and employers from discriminating based on genetic testing results, no legal provisions exist regarding long-term care, disability, or life insurance. Documented conversations about APOE test results in the medical record may become part of patients’ applications for these insurance products, and physicians should be cautious before documenting such discussions in the medical record.

Vignette 4

Tina L, age 60, comes to the clinic for a routine wellness visit. She recently developed an interest in genealogy and purchased a DNA testing kit to learn more about her family tree. As part of this testing, she unexpectedly learned that she has an APOE ε4/ε4 genotype. She describes feeling distraught and anxious about what the result means for her future.

Ms. L’s reaction to receiving unexpected genetic results highlights a concern of DTC APOE testing. Her experience is quite different from individuals undergoing medically recommended genetic testing or those who are participating in research studies. They receive comprehensive pre-test counseling by licensed genetic counselors. The counseling includes psychological assessment, education, and discussion of expectations.²

In Ms. L’s case, it may be helpful to explain the limits of APOE lifetime risk estimates (see Vignettes 1-3). But it’s also important to address her concerns. There are behavior scales that can aid the assessment and monitoring of an individual’s well-being. The Impact of Genetic Testing for Alzheimer’s Disease (IGT-AD) scale is a tool that assesses psychological impact. It can help physicians to identify, monitor, and address concerns.²¹ Other useful tools include the Patient Health Questionnaire-9 (PHQ-9) and the Geriatric Depression Scale (GDS) for depression, and a suicide or self-harm assessment.^2,22,23 Finally, a follow-up visit at 2 to 4 weeks may be useful to reassess psychological well-being.

Vignette 4 (cont’d)

Ms. L returns to the clinic 2 weeks later, reporting continued anxiety about her APOE test result and feelings of hopelessness and despair.

Continue to: Some patients struggle...

Some patients struggle with knowing their APOE test result. Test result–related distress is often a combination of depression (as with Ms. L), anger, confusion, and grief.²⁴ Cognitions often include worries about uncertainty, stereotyped threat, and internalized stigma.^25,26 These issues can spill over to patient concerns about sharing an APOE test result with others.²⁷

Intolerance of uncertainty is a transdiagnostic risk factor that can influence psychological suffering.²⁸ Brief cognitive behavioral interventions that reinforce routines and encourage healthy and mindful practices may help alleviate patient distress from unexpected genetic test results.²⁹ Interventions that personalize and validate an individual’s experience can help address internalized stigma.³⁰ Referral to a psychologist or psychiatrist could be warranted. Additionally, referral to a genetic counselor may help provide patients with access to added expertise and guidance; useful web-based resources for identifying an appropriate referral include https://medlineplus.gov/genetics/­understanding/consult/findingprofessional/ and https://findageneticcounselor.nsgc.org/.

Vignette 5

Bob K, age 65, comes to the clinic for his annual exam. He is a current smoker and says he’s hoping to be more physically active now that he is retired. He says that his mother and grandmother both had AD. He recently purchased DTC genetic testing to learn more about his risk for AD. His learned his APOE genotype is ε3/ε4 and is wondering what he can do to decrease his chances of developing AD.

Mr. K likely would have benefited from pre-test counseling regarding the lack of current therapies to modify one’s genetic risk for AD. A pre-test counseling session often includes education about APOE testing and a brief evaluation to assess psychological readiness to undergo testing. Posttest educational information may help Mr. K avoid predatory advertising of products claiming—without scientific evidence—to modify risk for cognitive decline or to improve cognitive function.

Emerging evidence from RCTs suggests that healthy lifestyle modifications may benefit cognition in individuals with APOE ε4 alleles.

There are several important pieces of information that should be communicated to Mr. K. Emerging evidence from randomized controlled trials suggests that healthy lifestyle modifications may benefit cognition in individuals with APOE ε4 alleles.³¹ It would be prudent to address proper blood pressure control³² and counsel Mr. K on how he may be able to avoid diabetes through exercise and weight maintenance. Lifestyle recommendations for Mr. K could include: smoking cessation, regular aerobic exercise (eg, 150 min/wk), and a brain-healthy diet (eg, the Mediterranean-DASH Intervention for Neurodegenerative Delay [MIND] diet).^13,14 Moreover, dementia prevention also includes appropriately managing depression and chronic illnesses and preventing social isolation and hearing loss.^15,16 This information should be thoughtfully conveyed, as these interventions can improve overall (especially cardiovascular) health, as well as mitigating one’s personal risk for AD.

Vignette 6

Juan L, age 45, comes in for his annual physical exam. He has a strong family history of heart disease. His cardiologist recently ordered lipid disorder genetic testing for familial hypercholesterolemia. This panel included APOE testing and showed Mr. L’s genotype is ε2/ε4. He read that the APOE gene can be associated with an increased AD risk and asks for information about his genotype.

Mr. L received genetic testing results that were ordered by a physician for another health purpose. Current recommendations for genetic testing in cardiology advise pre-test genetic counseling.³³ But this counseling may not include discussion of the relationship of APOE and risk for MCI or AD. This additional information may be unexpected for Mr. L. Moreover, its significance in the context of his present concerns about cardiovascular disease may influence his reaction.

Continue to: The ε2/ε4 genotype...

The ε2/ε4 genotype is rare. One study showed that in healthy adults, the frequency was 7 in 210 (0.02 [0.01-0.04]).³⁴ Given the rarity of the ε2/ε4 genotype, data about it are sparse. However, since the ε4 allele increases risk but the ε2 allele decreases risk, it is likely that any increase in risk is more modest than with ε3/ε4. In addition, it would help Mr. L to know that AD occurs infrequently before age 60.³⁵ Given his relatively young age, he is unlikely to develop AD any time in the near future. In addition, particularly if he starts early, he might be able to mitigate any increased risk through some of the advice provided to Mr. K in Vignette 5.

Vignette 7

Joe J, age 65, comes to the clinic for a new patient visit. He has no concerns about his memory but has a family history of dementia and recently purchased DTC genetic testing to learn about his genetic health risks. His results showed an APOE ε4/ε4 genotype. He is concerned about developing AD. He heard on the news that there is a drug that can treat AD and wants to know if he is a candidate for this treatment.

Mr. J would benefit from the education provided to Ms. W in Vignette 1. Patients such as Mr. J should be advised that while an APOE ε4/ε4 genotype conveys an increased risk for AD, it is not deterministic of the disease. While there are no specific preventive measures or treatments based on APOE genotype, careful medical care and lifestyle factors can offset some of the risk (see Vignette 5 for discussion).

One reason for the aducanumab controversy is that the drug has potenially severe adverse effects.

Recently (and controversially), the FDA approved aducanumab, a drug that targets amyloid.^6,36 Of note, brain amyloid is more common in individuals with the APOE ε4/ε4 genotype, such as Mr. J. However, there would be no point in testing Mr. J for brain amyloid because at present the drug is only indicated in symptomatic individuals—and, even in this setting, it is controversial. One reason for the controversy is that aducanumab has potentially severe adverse effects. Patients with the ε4/ε4 genotype should know that this genotype carries increased risk for the most serious adverse event, ARIA—which can include brain edema and microhemorrhages.

What lies ahead?

More research is needed to explore the impact that greater AD gene and biomarker testing will have on the health system and workforce development. In addition, graduate schools and training programs will need to prepare clinicians to address probabilistic risk estimates for common diseases, such as AD. Finally, health systems and medical groups that employ clinicians may want to offer simulated training—similar to the vignettes in this article—as a practice requirement or as continuing medical education. This may also allow health systems or medical groups to put in place frameworks that support clinicians in proactively answering questions for patients and families about APOE and other emerging markers of disease risk.

CORRESPONDENCE
Shana Stites, University of Pennsylvania, 3615 Chestnut Street, Philadelphia, PA 19104; Stites@UPenn.edu

Dementia is a family of disorders characterized by a decline in multiple cognitive abilities that significantly interferes with an individual’s functioning. An estimated 50 million people are living with a dementia worldwide.¹ Alzheimer’s disease (AD) is the leading cause of dementia, accounting for approximately two-thirds of dementia cases.¹ These numbers are expected to increase dramatically in the upcoming decades.

Sociologist Erving Goffman defined stigma as “an attribute, behaviour, or reputation which is socially discrediting in a particular way: it causes an individual to be mentally classified by others in an undesirable, rejected stereotype rather than in an accepted, normal one.”² Goffman² defined 3 broad categories of stigma: public, self, and courtesy (Table 1²).

Considerable evidence shows that the combined impact of having dementia and the negative response to the diagnosis significantly undermines an individual’s psychosocial well-being and quality of life.³ Persons with dementia (PwD) commonly report a loss of identity and self-worth, and stigma appears to deepen this distress.³ Stigma also negatively affects individuals associated with PwD, including family members and professionals. In this article, we discuss the impact of dementia-related stigma, and steps you can take to address it, including implementing person-centered clinical practices, promoting anti-stigma messaging campaigns, and advocating for public policy action to improve the lives of PwD and their families.

A pervasive problem

Although the Alzheimer’s Society International and the World Health Organi­zation acknowledge that stigma has a central role in defining the experience of AD, how stigma may present, how clinicians and researchers can recognize and measure stigma, and how to best combat it have been understudied.^3-5 A recent systematic literature review examined worldwide evidence on dementia-related stigma over the past decade.⁶ Hermann et al⁶ found that health care providers and the general public may hold stigmatizing attitudes toward PwD, and that stigma may be particularly harsh among racial and ethnic minorities, although the literature is scarce in this area. Cultural factors may also worsen stigma, and stigma may be associated with reduced awareness of dementia services and reduced help-seeking among minority groups.^7,8 Studies show that stigmatizing attitudes are more pronounced in people with limited knowledge of dementia, in those with little contact with PwD, in men, in younger individuals, and in the context of cultural interpretations of dementia.⁶ Health care providers can also sometimes contribute to the perpetuation of stigma.⁶

In terms of standardized scales or instruments for evaluating dementia-related stigma, there is no uniformly accepted “gold standard” measure, which makes it difficult to compare studies.⁶ In order to effectively study efforts to reduce stigma, researchers need to identify and establish a consensus on rating scales for evaluating stigma among PwD, caregivers, and the general public. Three instruments that may be used for this purpose are the Family Stigma in Alzheimer’s Disease Scale (FS-ADS),⁹ the Stigma Scale for Chronic Illness (SSCI),¹⁰ and the Perceptions Regarding Investigational Screening for Memory in Primary Care (PRISM-PC).¹¹

The detrimental effects of stigma

Burgener et al¹² reported that personal stigma impacted functioning and quality of life in PwD. Higher levels of stigma were associated with higher anxiety, depression, and behavioral symptoms and lower self-esteem, social support, participation in activities, personal control, and physical health.¹² Personal characteristics that may affect stigma include gender, location (rural vs urban), ethnicity, education level, and living arrangements (alone vs with family).¹²

In a subset of PwD with early-stage memory loss (n = 22), Burgener and Buckwalter¹³ found that 42% of participants were reluctant to reveal their diagnosis to others, with some fearing they would no longer be allowed to live alone and would be “sent to a facility.” In addition, 46% indicated they did not want “to be talked about like they were not there.” More than 50% of participants reported changes in their social network after receiving the diagnosis, including reducing activities and limiting types of contacts (ie, telephone only) or interacting only when “people come to me.” Participants were most comfortable with good friends “who understand” and persons within their faith communities. When asked about how they were treated by family members, >50% of participants described being treated differently, including loss of financial independence, more limited contact, and being “treated like a baby” by their children, who in general were uncomfortable talking about the diagnosis.

Continue to: In a recent study...

In a recent study by Harper et al,¹⁴ stigma was prevalent in the experience of PwD. One participant disclosed:

“I think there is [are] people I know who don’t ask me to go places or do things ’cause I have a dementia…I think lots of people don’t know what dementia is and I think it scares them ’cause they think of it as crazy. It hurts…”

Another participant said:

“I have had friends for over thirty years. They have turned their backs on me…we used to go for walks and they would phone me and go for coffee. Now I don’t hear from any of them…those aren’t true friends…true friends will stand behind you, not in front of you. That’s why I am not happy.”

Overall, quantitative and qualitative findings indicate multiple, detrimental effects of personal stigma on PwD. These effects fit well with measures of self-stigma, including social rejection (eg, being treated differently, participating in fewer activities, and having fewer friends), internalized shame (eg, being treated like a child, having fewer responsibilities, others acting as if dementia is “contagious”), and social isolation (eg, being less outgoing, feeling more comfortable in small groups, having limited social contacts).¹⁵

Continue to: Receiving a diagnosis of dementia...

Receiving a diagnosis of dementia presents patients and their families with psychological and social challenges.¹⁶ Many of these challenges are the consequence of stigma. A broad range of efforts are underway worldwide to reduce dementia-related stigma. These efforts include programs to promote public awareness and education, campaigns to develop inclusive social policies, and skills-based training initiatives to promote delivery of patient-centered care by clinicians and educators.^3,17,18 Many of these efforts share a common focus on promoting the “dignity” and “personhood” of PwD in order to disrupt stereotypes or fixed, oversimplified beliefs associated with dementia.

Implementing person-centered clinical care

In clinical practice, direct discussion that encourages reflection and the use of effective and sensitive communication can help to limit passing on stigmatizing beliefs and to reduce negative stereotypes associated with the disease. Health care communications that call attention to stereotypes may allow PwD to identify stereotypes as well as inaccuracies in those stereotypes. Interventions that validate the value of diversity can help PwD accept the ways in which they may not conform to social norms. This could include language such as “There is no one way to have Alzheimer’s disease. A person’s experience can differ from what others might experience or expect, and that’s okay.” In addition, the use of language that is accurate, respectful, inclusive, and empowering can support PwD and their caregivers.^19,20 For example, referring to PwD as “individuals living with dementia” rather than “those who are demented” conveys respect and appreciation for personhood. Other clinicians have provided additional practical suggestions.²¹

Anti-stigma messaging campaigns

The mass media is a common source of stereotypes about AD and other dementias. They typically present a “worst-case” scenario that promotes ageism, gerontophobia, and negative emotions, which may worsen stigma and discrimination towards PwD and the people who care for them. However, public messaging campaigns are emerging to counter negative messages and stereotypes in the mass media. Projects such as Typical Day, People with Dementia, and other online anti-stigma messaging campaigns allow a broad audience to gain a more nuanced understanding of the lives of PwD and their caregivers. These projects are rich resources that offer education and personal stories that can counter common stereotypes about dementia.

Typical Day is a photography project developed and maintained by clinicians and researchers at the University of Pennsylvania. Since early 2017, the project has provided a forum for individuals with mild cognitive impairment or dementia to document their lives and show what it means to them to live with dementia. Participants in the project photo-document the people, places, and objects that define their daily lives. They review and explain these photos with researchers at Penn Memory Center, who help them tell their stories. The participants’ stories, the photos they capture, and their portraits are available at www.mytypicalday.org.

People of Dementia. Storytelling is a powerful way to raise awareness of and reduce the stigma associated with dementia. For PwD, telling their stories can be an effective and therapeutic way to communicate their emotions and deliver an important message. In the blog People of Dementia (www.peopleofdementia.com),^22,23 PwD highlight who they were before the disease and how things have changed, with family members highlighting the challenges of caring for a person with dementia.

Continue to: The common thread is...

The common thread is the enduring “person” behind the exterior that is obscured by dementia. By allowing the audience to form a connection with who the individual was prior to the disease, and understanding the changes that have come as a result of dementia to both PwD and their support network, readers gain a greater appreciation of those affected by dementia. Between May 1, 2017 and May 31, 2019, the blog had more than 3,860 visitors. In an accompanying online survey (N = 57), 79% of respondents agreed/strongly agreed that after visiting the People of Dementia blog, they had a better understanding of the changes that occur as a result of cognitive impairment/dementia (Figure 1). Almost two-thirds of respondents (65%) agreed/strongly agreed that they felt more comfortable interacting with PwD (Figure 2). Additionally, 60% of respondents agreed/strongly agreed that they were more encouraged to work with PwD, and 90% agreed/strongly agreed that they had a greater appreciation of the challenges of being a caregiver for PwD. Overall, these findings suggest that the People of Dementia blog is useful for engaging the public and promoting a better understanding of dementia.

Work for policy changes

Clinicians can support public policy through education and advocacy both in the delivery of care and as spokespersons and stakeholders in their local communities. Public policies are important for providing access to medical and social services to meet the needs of PwD and their caregivers. The absence—real or perceived—of sufficient resources exacerbates dementia-related stigma. In addition to facilitating access to resources, national dementia strategies or legal frameworks, such as the National Alzheimer’s Project Act in the United States, include policy initiatives to identify and promote communication approaches that are effective and sensitive with respect to people living with dementia and their caregivers.

State and local legislators and patient advocates are leading policy efforts to reduce dementia-related stigma. For example, Colorado recently changed statutory references from being specific to diseases that cause dementia to the broader, more inclusive phrase “dementia diseases and related disabilities.”¹⁸ In addition to making funds available to support caregiving services for PwD, this legislative change added training for first responders to better meet the needs of missing PwD, and shifted the terminology used to diagnose and communicate about diseases causing dementia. The shift in language added new terminology that was chosen for being more person-centered to replace prior references to “senior senility,” “senility,” and other terms with pejorative meanings.

In Canada, a National Dementia Strategy will commit the Canadian government to action with definitive timelines, targets, reporting structures, and measurable outcomes.²⁴

Table 2 summarizes approaches to addressing dementia-related stigma.

Continue to: An open discussion

Larger studies and testing of diverse approaches are needed to better understand whether intergenerational initiatives or other approaches can genuinely modify stigmatizing attitudes in various dementia populations, especially considering language, health literacy, cultural preferences, and other needs. The identified effects on physical and mental health, quality of life, self-esteem, and behavioral symptoms further support the extensive, negative effects of self-stigma on PwD, and emphasize the need to develop and test interventions to ameliorate these effects.

We presented at a Stigma Symposium at the 2018 Gerontological Society of America Annual Scientific Meeting in Boston, Massachusetts.²⁵ Attendees of this conference shared our concerns about the detrimental effects of stigma. The main question we were asked was “What can we do to reduce stigma?” Perhaps the most immediate response is that in order to move the stigma dial, clinicians need to recognize that stigma has multiple, broad-reaching, and negative effects on PwD and their families.⁶ Bringing the discussion into the open and targeting stigma at multiple levels needs to be addressed by clinicians, researchers, administrators, and society at large.

Bottom Line

Stigma has multiple, broad-reaching, and negative effects on persons with dementia and their families. In clinical practice, direct discussion that encourages reflection and the use of effective and sensitive communication can help to limit passing on stigmatizing beliefs and to reduce negative stereotypes associated with the disease. Anti-stigma messaging campaigns and public policy changes also can be used to address societal and social inequities of patients with dementia and their caregivers.

Related Resources

• Khoury R, Shach R, Nair A, et al. Can lifestyle modifications delay or prevent Alzheimer’s disease? Current Psychiatry. 2019;18(1):29-36,38.
• Burke AD, Burke WJ. Antipsychotics for patients with dementia: The road less traveled. Current Psychiatry. 2018;17(10):26-32,35-37.

Dementia is a family of disorders characterized by a decline in multiple cognitive abilities that significantly interferes with an individual’s functioning. An estimated 50 million people are living with a dementia worldwide.¹ Alzheimer’s disease (AD) is the leading cause of dementia, accounting for approximately two-thirds of dementia cases.¹ These numbers are expected to increase dramatically in the upcoming decades.

Sociologist Erving Goffman defined stigma as “an attribute, behaviour, or reputation which is socially discrediting in a particular way: it causes an individual to be mentally classified by others in an undesirable, rejected stereotype rather than in an accepted, normal one.”² Goffman² defined 3 broad categories of stigma: public, self, and courtesy (Table 1²).

Considerable evidence shows that the combined impact of having dementia and the negative response to the diagnosis significantly undermines an individual’s psychosocial well-being and quality of life.³ Persons with dementia (PwD) commonly report a loss of identity and self-worth, and stigma appears to deepen this distress.³ Stigma also negatively affects individuals associated with PwD, including family members and professionals. In this article, we discuss the impact of dementia-related stigma, and steps you can take to address it, including implementing person-centered clinical practices, promoting anti-stigma messaging campaigns, and advocating for public policy action to improve the lives of PwD and their families.

A pervasive problem

Although the Alzheimer’s Society International and the World Health Organi­zation acknowledge that stigma has a central role in defining the experience of AD, how stigma may present, how clinicians and researchers can recognize and measure stigma, and how to best combat it have been understudied.^3-5 A recent systematic literature review examined worldwide evidence on dementia-related stigma over the past decade.⁶ Hermann et al⁶ found that health care providers and the general public may hold stigmatizing attitudes toward PwD, and that stigma may be particularly harsh among racial and ethnic minorities, although the literature is scarce in this area. Cultural factors may also worsen stigma, and stigma may be associated with reduced awareness of dementia services and reduced help-seeking among minority groups.^7,8 Studies show that stigmatizing attitudes are more pronounced in people with limited knowledge of dementia, in those with little contact with PwD, in men, in younger individuals, and in the context of cultural interpretations of dementia.⁶ Health care providers can also sometimes contribute to the perpetuation of stigma.⁶

In terms of standardized scales or instruments for evaluating dementia-related stigma, there is no uniformly accepted “gold standard” measure, which makes it difficult to compare studies.⁶ In order to effectively study efforts to reduce stigma, researchers need to identify and establish a consensus on rating scales for evaluating stigma among PwD, caregivers, and the general public. Three instruments that may be used for this purpose are the Family Stigma in Alzheimer’s Disease Scale (FS-ADS),⁹ the Stigma Scale for Chronic Illness (SSCI),¹⁰ and the Perceptions Regarding Investigational Screening for Memory in Primary Care (PRISM-PC).¹¹

The detrimental effects of stigma

Burgener et al¹² reported that personal stigma impacted functioning and quality of life in PwD. Higher levels of stigma were associated with higher anxiety, depression, and behavioral symptoms and lower self-esteem, social support, participation in activities, personal control, and physical health.¹² Personal characteristics that may affect stigma include gender, location (rural vs urban), ethnicity, education level, and living arrangements (alone vs with family).¹²

In a subset of PwD with early-stage memory loss (n = 22), Burgener and Buckwalter¹³ found that 42% of participants were reluctant to reveal their diagnosis to others, with some fearing they would no longer be allowed to live alone and would be “sent to a facility.” In addition, 46% indicated they did not want “to be talked about like they were not there.” More than 50% of participants reported changes in their social network after receiving the diagnosis, including reducing activities and limiting types of contacts (ie, telephone only) or interacting only when “people come to me.” Participants were most comfortable with good friends “who understand” and persons within their faith communities. When asked about how they were treated by family members, >50% of participants described being treated differently, including loss of financial independence, more limited contact, and being “treated like a baby” by their children, who in general were uncomfortable talking about the diagnosis.

Continue to: In a recent study...

In a recent study by Harper et al,¹⁴ stigma was prevalent in the experience of PwD. One participant disclosed:

“I think there is [are] people I know who don’t ask me to go places or do things ’cause I have a dementia…I think lots of people don’t know what dementia is and I think it scares them ’cause they think of it as crazy. It hurts…”

Another participant said:

“I have had friends for over thirty years. They have turned their backs on me…we used to go for walks and they would phone me and go for coffee. Now I don’t hear from any of them…those aren’t true friends…true friends will stand behind you, not in front of you. That’s why I am not happy.”

Overall, quantitative and qualitative findings indicate multiple, detrimental effects of personal stigma on PwD. These effects fit well with measures of self-stigma, including social rejection (eg, being treated differently, participating in fewer activities, and having fewer friends), internalized shame (eg, being treated like a child, having fewer responsibilities, others acting as if dementia is “contagious”), and social isolation (eg, being less outgoing, feeling more comfortable in small groups, having limited social contacts).¹⁵

Continue to: Receiving a diagnosis of dementia...

Receiving a diagnosis of dementia presents patients and their families with psychological and social challenges.¹⁶ Many of these challenges are the consequence of stigma. A broad range of efforts are underway worldwide to reduce dementia-related stigma. These efforts include programs to promote public awareness and education, campaigns to develop inclusive social policies, and skills-based training initiatives to promote delivery of patient-centered care by clinicians and educators.^3,17,18 Many of these efforts share a common focus on promoting the “dignity” and “personhood” of PwD in order to disrupt stereotypes or fixed, oversimplified beliefs associated with dementia.

Implementing person-centered clinical care

In clinical practice, direct discussion that encourages reflection and the use of effective and sensitive communication can help to limit passing on stigmatizing beliefs and to reduce negative stereotypes associated with the disease. Health care communications that call attention to stereotypes may allow PwD to identify stereotypes as well as inaccuracies in those stereotypes. Interventions that validate the value of diversity can help PwD accept the ways in which they may not conform to social norms. This could include language such as “There is no one way to have Alzheimer’s disease. A person’s experience can differ from what others might experience or expect, and that’s okay.” In addition, the use of language that is accurate, respectful, inclusive, and empowering can support PwD and their caregivers.^19,20 For example, referring to PwD as “individuals living with dementia” rather than “those who are demented” conveys respect and appreciation for personhood. Other clinicians have provided additional practical suggestions.²¹

Anti-stigma messaging campaigns

The mass media is a common source of stereotypes about AD and other dementias. They typically present a “worst-case” scenario that promotes ageism, gerontophobia, and negative emotions, which may worsen stigma and discrimination towards PwD and the people who care for them. However, public messaging campaigns are emerging to counter negative messages and stereotypes in the mass media. Projects such as Typical Day, People with Dementia, and other online anti-stigma messaging campaigns allow a broad audience to gain a more nuanced understanding of the lives of PwD and their caregivers. These projects are rich resources that offer education and personal stories that can counter common stereotypes about dementia.

Typical Day is a photography project developed and maintained by clinicians and researchers at the University of Pennsylvania. Since early 2017, the project has provided a forum for individuals with mild cognitive impairment or dementia to document their lives and show what it means to them to live with dementia. Participants in the project photo-document the people, places, and objects that define their daily lives. They review and explain these photos with researchers at Penn Memory Center, who help them tell their stories. The participants’ stories, the photos they capture, and their portraits are available at www.mytypicalday.org.

People of Dementia. Storytelling is a powerful way to raise awareness of and reduce the stigma associated with dementia. For PwD, telling their stories can be an effective and therapeutic way to communicate their emotions and deliver an important message. In the blog People of Dementia (www.peopleofdementia.com),^22,23 PwD highlight who they were before the disease and how things have changed, with family members highlighting the challenges of caring for a person with dementia.

Continue to: The common thread is...

The common thread is the enduring “person” behind the exterior that is obscured by dementia. By allowing the audience to form a connection with who the individual was prior to the disease, and understanding the changes that have come as a result of dementia to both PwD and their support network, readers gain a greater appreciation of those affected by dementia. Between May 1, 2017 and May 31, 2019, the blog had more than 3,860 visitors. In an accompanying online survey (N = 57), 79% of respondents agreed/strongly agreed that after visiting the People of Dementia blog, they had a better understanding of the changes that occur as a result of cognitive impairment/dementia (Figure 1). Almost two-thirds of respondents (65%) agreed/strongly agreed that they felt more comfortable interacting with PwD (Figure 2). Additionally, 60% of respondents agreed/strongly agreed that they were more encouraged to work with PwD, and 90% agreed/strongly agreed that they had a greater appreciation of the challenges of being a caregiver for PwD. Overall, these findings suggest that the People of Dementia blog is useful for engaging the public and promoting a better understanding of dementia.

Work for policy changes

Clinicians can support public policy through education and advocacy both in the delivery of care and as spokespersons and stakeholders in their local communities. Public policies are important for providing access to medical and social services to meet the needs of PwD and their caregivers. The absence—real or perceived—of sufficient resources exacerbates dementia-related stigma. In addition to facilitating access to resources, national dementia strategies or legal frameworks, such as the National Alzheimer’s Project Act in the United States, include policy initiatives to identify and promote communication approaches that are effective and sensitive with respect to people living with dementia and their caregivers.

State and local legislators and patient advocates are leading policy efforts to reduce dementia-related stigma. For example, Colorado recently changed statutory references from being specific to diseases that cause dementia to the broader, more inclusive phrase “dementia diseases and related disabilities.”¹⁸ In addition to making funds available to support caregiving services for PwD, this legislative change added training for first responders to better meet the needs of missing PwD, and shifted the terminology used to diagnose and communicate about diseases causing dementia. The shift in language added new terminology that was chosen for being more person-centered to replace prior references to “senior senility,” “senility,” and other terms with pejorative meanings.

In Canada, a National Dementia Strategy will commit the Canadian government to action with definitive timelines, targets, reporting structures, and measurable outcomes.²⁴

Table 2 summarizes approaches to addressing dementia-related stigma.

Continue to: An open discussion

Larger studies and testing of diverse approaches are needed to better understand whether intergenerational initiatives or other approaches can genuinely modify stigmatizing attitudes in various dementia populations, especially considering language, health literacy, cultural preferences, and other needs. The identified effects on physical and mental health, quality of life, self-esteem, and behavioral symptoms further support the extensive, negative effects of self-stigma on PwD, and emphasize the need to develop and test interventions to ameliorate these effects.

We presented at a Stigma Symposium at the 2018 Gerontological Society of America Annual Scientific Meeting in Boston, Massachusetts.²⁵ Attendees of this conference shared our concerns about the detrimental effects of stigma. The main question we were asked was “What can we do to reduce stigma?” Perhaps the most immediate response is that in order to move the stigma dial, clinicians need to recognize that stigma has multiple, broad-reaching, and negative effects on PwD and their families.⁶ Bringing the discussion into the open and targeting stigma at multiple levels needs to be addressed by clinicians, researchers, administrators, and society at large.

Bottom Line

Stigma has multiple, broad-reaching, and negative effects on persons with dementia and their families. In clinical practice, direct discussion that encourages reflection and the use of effective and sensitive communication can help to limit passing on stigmatizing beliefs and to reduce negative stereotypes associated with the disease. Anti-stigma messaging campaigns and public policy changes also can be used to address societal and social inequities of patients with dementia and their caregivers.

Related Resources

• Khoury R, Shach R, Nair A, et al. Can lifestyle modifications delay or prevent Alzheimer’s disease? Current Psychiatry. 2019;18(1):29-36,38.
• Burke AD, Burke WJ. Antipsychotics for patients with dementia: The road less traveled. Current Psychiatry. 2018;17(10):26-32,35-37.

Dementia is a family of disorders characterized by a decline in multiple cognitive abilities that significantly interferes with an individual’s functioning. An estimated 50 million people are living with a dementia worldwide.¹ Alzheimer’s disease (AD) is the leading cause of dementia, accounting for approximately two-thirds of dementia cases.¹ These numbers are expected to increase dramatically in the upcoming decades.

Sociologist Erving Goffman defined stigma as “an attribute, behaviour, or reputation which is socially discrediting in a particular way: it causes an individual to be mentally classified by others in an undesirable, rejected stereotype rather than in an accepted, normal one.”² Goffman² defined 3 broad categories of stigma: public, self, and courtesy (Table 1²).

Considerable evidence shows that the combined impact of having dementia and the negative response to the diagnosis significantly undermines an individual’s psychosocial well-being and quality of life.³ Persons with dementia (PwD) commonly report a loss of identity and self-worth, and stigma appears to deepen this distress.³ Stigma also negatively affects individuals associated with PwD, including family members and professionals. In this article, we discuss the impact of dementia-related stigma, and steps you can take to address it, including implementing person-centered clinical practices, promoting anti-stigma messaging campaigns, and advocating for public policy action to improve the lives of PwD and their families.

A pervasive problem

Although the Alzheimer’s Society International and the World Health Organi­zation acknowledge that stigma has a central role in defining the experience of AD, how stigma may present, how clinicians and researchers can recognize and measure stigma, and how to best combat it have been understudied.^3-5 A recent systematic literature review examined worldwide evidence on dementia-related stigma over the past decade.⁶ Hermann et al⁶ found that health care providers and the general public may hold stigmatizing attitudes toward PwD, and that stigma may be particularly harsh among racial and ethnic minorities, although the literature is scarce in this area. Cultural factors may also worsen stigma, and stigma may be associated with reduced awareness of dementia services and reduced help-seeking among minority groups.^7,8 Studies show that stigmatizing attitudes are more pronounced in people with limited knowledge of dementia, in those with little contact with PwD, in men, in younger individuals, and in the context of cultural interpretations of dementia.⁶ Health care providers can also sometimes contribute to the perpetuation of stigma.⁶

In terms of standardized scales or instruments for evaluating dementia-related stigma, there is no uniformly accepted “gold standard” measure, which makes it difficult to compare studies.⁶ In order to effectively study efforts to reduce stigma, researchers need to identify and establish a consensus on rating scales for evaluating stigma among PwD, caregivers, and the general public. Three instruments that may be used for this purpose are the Family Stigma in Alzheimer’s Disease Scale (FS-ADS),⁹ the Stigma Scale for Chronic Illness (SSCI),¹⁰ and the Perceptions Regarding Investigational Screening for Memory in Primary Care (PRISM-PC).¹¹

The detrimental effects of stigma

Burgener et al¹² reported that personal stigma impacted functioning and quality of life in PwD. Higher levels of stigma were associated with higher anxiety, depression, and behavioral symptoms and lower self-esteem, social support, participation in activities, personal control, and physical health.¹² Personal characteristics that may affect stigma include gender, location (rural vs urban), ethnicity, education level, and living arrangements (alone vs with family).¹²

In a subset of PwD with early-stage memory loss (n = 22), Burgener and Buckwalter¹³ found that 42% of participants were reluctant to reveal their diagnosis to others, with some fearing they would no longer be allowed to live alone and would be “sent to a facility.” In addition, 46% indicated they did not want “to be talked about like they were not there.” More than 50% of participants reported changes in their social network after receiving the diagnosis, including reducing activities and limiting types of contacts (ie, telephone only) or interacting only when “people come to me.” Participants were most comfortable with good friends “who understand” and persons within their faith communities. When asked about how they were treated by family members, >50% of participants described being treated differently, including loss of financial independence, more limited contact, and being “treated like a baby” by their children, who in general were uncomfortable talking about the diagnosis.

Continue to: In a recent study...

In a recent study by Harper et al,¹⁴ stigma was prevalent in the experience of PwD. One participant disclosed:

“I think there is [are] people I know who don’t ask me to go places or do things ’cause I have a dementia…I think lots of people don’t know what dementia is and I think it scares them ’cause they think of it as crazy. It hurts…”

Another participant said:

“I have had friends for over thirty years. They have turned their backs on me…we used to go for walks and they would phone me and go for coffee. Now I don’t hear from any of them…those aren’t true friends…true friends will stand behind you, not in front of you. That’s why I am not happy.”

Overall, quantitative and qualitative findings indicate multiple, detrimental effects of personal stigma on PwD. These effects fit well with measures of self-stigma, including social rejection (eg, being treated differently, participating in fewer activities, and having fewer friends), internalized shame (eg, being treated like a child, having fewer responsibilities, others acting as if dementia is “contagious”), and social isolation (eg, being less outgoing, feeling more comfortable in small groups, having limited social contacts).¹⁵

Continue to: Receiving a diagnosis of dementia...

Receiving a diagnosis of dementia presents patients and their families with psychological and social challenges.¹⁶ Many of these challenges are the consequence of stigma. A broad range of efforts are underway worldwide to reduce dementia-related stigma. These efforts include programs to promote public awareness and education, campaigns to develop inclusive social policies, and skills-based training initiatives to promote delivery of patient-centered care by clinicians and educators.^3,17,18 Many of these efforts share a common focus on promoting the “dignity” and “personhood” of PwD in order to disrupt stereotypes or fixed, oversimplified beliefs associated with dementia.

Implementing person-centered clinical care

In clinical practice, direct discussion that encourages reflection and the use of effective and sensitive communication can help to limit passing on stigmatizing beliefs and to reduce negative stereotypes associated with the disease. Health care communications that call attention to stereotypes may allow PwD to identify stereotypes as well as inaccuracies in those stereotypes. Interventions that validate the value of diversity can help PwD accept the ways in which they may not conform to social norms. This could include language such as “There is no one way to have Alzheimer’s disease. A person’s experience can differ from what others might experience or expect, and that’s okay.” In addition, the use of language that is accurate, respectful, inclusive, and empowering can support PwD and their caregivers.^19,20 For example, referring to PwD as “individuals living with dementia” rather than “those who are demented” conveys respect and appreciation for personhood. Other clinicians have provided additional practical suggestions.²¹

Anti-stigma messaging campaigns

The mass media is a common source of stereotypes about AD and other dementias. They typically present a “worst-case” scenario that promotes ageism, gerontophobia, and negative emotions, which may worsen stigma and discrimination towards PwD and the people who care for them. However, public messaging campaigns are emerging to counter negative messages and stereotypes in the mass media. Projects such as Typical Day, People with Dementia, and other online anti-stigma messaging campaigns allow a broad audience to gain a more nuanced understanding of the lives of PwD and their caregivers. These projects are rich resources that offer education and personal stories that can counter common stereotypes about dementia.

Typical Day is a photography project developed and maintained by clinicians and researchers at the University of Pennsylvania. Since early 2017, the project has provided a forum for individuals with mild cognitive impairment or dementia to document their lives and show what it means to them to live with dementia. Participants in the project photo-document the people, places, and objects that define their daily lives. They review and explain these photos with researchers at Penn Memory Center, who help them tell their stories. The participants’ stories, the photos they capture, and their portraits are available at www.mytypicalday.org.

People of Dementia. Storytelling is a powerful way to raise awareness of and reduce the stigma associated with dementia. For PwD, telling their stories can be an effective and therapeutic way to communicate their emotions and deliver an important message. In the blog People of Dementia (www.peopleofdementia.com),^22,23 PwD highlight who they were before the disease and how things have changed, with family members highlighting the challenges of caring for a person with dementia.

Continue to: The common thread is...

The common thread is the enduring “person” behind the exterior that is obscured by dementia. By allowing the audience to form a connection with who the individual was prior to the disease, and understanding the changes that have come as a result of dementia to both PwD and their support network, readers gain a greater appreciation of those affected by dementia. Between May 1, 2017 and May 31, 2019, the blog had more than 3,860 visitors. In an accompanying online survey (N = 57), 79% of respondents agreed/strongly agreed that after visiting the People of Dementia blog, they had a better understanding of the changes that occur as a result of cognitive impairment/dementia (Figure 1). Almost two-thirds of respondents (65%) agreed/strongly agreed that they felt more comfortable interacting with PwD (Figure 2). Additionally, 60% of respondents agreed/strongly agreed that they were more encouraged to work with PwD, and 90% agreed/strongly agreed that they had a greater appreciation of the challenges of being a caregiver for PwD. Overall, these findings suggest that the People of Dementia blog is useful for engaging the public and promoting a better understanding of dementia.

Work for policy changes

Clinicians can support public policy through education and advocacy both in the delivery of care and as spokespersons and stakeholders in their local communities. Public policies are important for providing access to medical and social services to meet the needs of PwD and their caregivers. The absence—real or perceived—of sufficient resources exacerbates dementia-related stigma. In addition to facilitating access to resources, national dementia strategies or legal frameworks, such as the National Alzheimer’s Project Act in the United States, include policy initiatives to identify and promote communication approaches that are effective and sensitive with respect to people living with dementia and their caregivers.

State and local legislators and patient advocates are leading policy efforts to reduce dementia-related stigma. For example, Colorado recently changed statutory references from being specific to diseases that cause dementia to the broader, more inclusive phrase “dementia diseases and related disabilities.”¹⁸ In addition to making funds available to support caregiving services for PwD, this legislative change added training for first responders to better meet the needs of missing PwD, and shifted the terminology used to diagnose and communicate about diseases causing dementia. The shift in language added new terminology that was chosen for being more person-centered to replace prior references to “senior senility,” “senility,” and other terms with pejorative meanings.

In Canada, a National Dementia Strategy will commit the Canadian government to action with definitive timelines, targets, reporting structures, and measurable outcomes.²⁴

Table 2 summarizes approaches to addressing dementia-related stigma.

Continue to: An open discussion

Larger studies and testing of diverse approaches are needed to better understand whether intergenerational initiatives or other approaches can genuinely modify stigmatizing attitudes in various dementia populations, especially considering language, health literacy, cultural preferences, and other needs. The identified effects on physical and mental health, quality of life, self-esteem, and behavioral symptoms further support the extensive, negative effects of self-stigma on PwD, and emphasize the need to develop and test interventions to ameliorate these effects.

We presented at a Stigma Symposium at the 2018 Gerontological Society of America Annual Scientific Meeting in Boston, Massachusetts.²⁵ Attendees of this conference shared our concerns about the detrimental effects of stigma. The main question we were asked was “What can we do to reduce stigma?” Perhaps the most immediate response is that in order to move the stigma dial, clinicians need to recognize that stigma has multiple, broad-reaching, and negative effects on PwD and their families.⁶ Bringing the discussion into the open and targeting stigma at multiple levels needs to be addressed by clinicians, researchers, administrators, and society at large.

Bottom Line

Stigma has multiple, broad-reaching, and negative effects on persons with dementia and their families. In clinical practice, direct discussion that encourages reflection and the use of effective and sensitive communication can help to limit passing on stigmatizing beliefs and to reduce negative stereotypes associated with the disease. Anti-stigma messaging campaigns and public policy changes also can be used to address societal and social inequities of patients with dementia and their caregivers.

Related Resources

• Khoury R, Shach R, Nair A, et al. Can lifestyle modifications delay or prevent Alzheimer’s disease? Current Psychiatry. 2019;18(1):29-36,38.
• Burke AD, Burke WJ. Antipsychotics for patients with dementia: The road less traveled. Current Psychiatry. 2018;17(10):26-32,35-37.