By Chloe Stier
Despite decades of groundbreaking investigation and medical advances, Alzheimer’s disease (AD), a neurodegenerative disorder and the sixth leading cause of death in the United States, remains a troubling enigma that robs its suffers of both memory and autonomy. The disease’s onset predominantly occurs later in life and the risk increases with age, claiming 13% of the population over age 65 and 43% over 85.[i] Unlike other leading causes of death, AD has no cure and no treatment options, save five palliative drugs approved by the FDA that alleviate symptoms and minimize suffering for Alzheimer’s patients.
Currently, conclusive diagnosis of AD is only possible via post-mortem brain tissue examination. “Probable Alzheimer’s,” however, can be clinically diagnosed when progressive deficits arise in two or more cognitive areas (e.g. memory, language, executive function) and no alternative explanation is apparent. But given that these perceptible deficits occur ten or more years after the first neurological changes occur in the brain of an AD patient, at the time of diagnosis the disease will have already progressed to middle or late stages.[ii]
Advances in clinical diagnostic capabilities that take advantage of biomarkers, natural substances whose presence is highly correlated with disease incidence, suggest that it will soon be possible to predict with high accuracy at an earlier stage which healthy individuals will develop AD over the course of their lifetimes. Although the FDA has not yet validated any biomarkers for AD, methods such as measuring protein levels in cerebrospinal fluid, neuroimaging to track changes in the brain, and genetic testing to establish predisposition hold great predictive promise, both individually and in conjunction with one another.
The implications of early AD diagnosis extend beyond the realm of an individual patient’s health status; indeed, the ability to predict Alzheimer’s would have a significant impact on family dynamics, workplace discrimination policy, and the future of the long-term care insurance industry. As with many ethical debates in healthcare, one cannot make sweeping assertions that these implications would yield strictly “positive” or “negative” outcomes. Instead, it is important to probe further, engaging in a nuanced consideration of the consequences of early Alzheimer’s diagnosis for the many stakeholders involved, so that they might be better equipped to face the ramifications of the diagnostic technology’s development.
Unquestionably, the primary stakeholder in this discussion is the patient. While the prospect of receiving notification of an impending neurodegenerative disease seems objectionable to some, research suggests that the majority of the U.S. population desires such information. Three out of four people would take advantage of a predictive AD test, expressing a willingness to pay on average $400-$500 out of pocket for the analysis.[iii]
Some have voiced concern for patient emotional well-being and argue that predictive tests should not be offered in the absence of a cure, when nothing can be done to address the condition save palliative measures. Yet patients have proven to react well to negative prognoses. Stanford neurologist Frank Longo related that only once in his clinical career treating Huntington’s patients did anyone report having regretted the decision to undergo a diagnostic DNA test.[iv] In fact, stress levels have been shown to decrease in patients after receiving the results of the test, regardless of the positive or negative nature of the news.[v]
Although the patient himself may experience decreased stress, knowledge of the disease’s future onset may cause significant strain in family dynamics. Nearly half of respondents to the same survey would conceal test results from their spouse or significant other if they were to receive a positive diagnosis.[vi] This information, however, has nearly as significant an impact on the partner’s life as it does on that of the patient. Dementia notoriously places an extremely heavy burden on caregivers, many of whom suffer from high levels of emotional stress, depression, and ill health in general.[vii] While HIPAA regulations entitle a patient to privacy, the question of whether spouses ought to be informed is certainly one that should be considered.
Job security is another common concern among patients who desire the test, with 45% of respondents reporting that they would likely experience anxiety over their employer gaining access to the diagnosis. These concerns are not unfounded, as existing nondiscrimination laws at the national level do not protect against discrimination based on all medical diagnostic methods.[viii] The Genetic Information Nondiscrimination Act of 2008 (GINA) forbids employers from making hiring, firing, and other related decisions based on genetic information. [ix] Thus an AD patient’s employment security may depend on the diagnostic test employed: those assessed for genetic predisposition would be protected while those undergoing cerebrospinal fluid testing or brain imaging techniques are left legally vulnerable to discrimination under current legislation.
The same difficulty arises in the health insurance industry. While GINA protects those diagnosed via genetic screening from being excluded from the insurance practice or charged higher premiums based on genetic “pre-existing conditions,” other diagnostic methods lack this safeguard. Since all three approaches to Alzheimer’s diagnosis are valuable and likely to be used in conjunction with one another, it is important to ensure that all patients receiving predictive testing for Alzheimer’s have equal protection against workplace and health insurance discrimination, regardless of the diagnostic method employed to arrive at that prediction.
Another limitation of the GINA legislation is its failure to protect patients from discrimination by long-term care insurance companies, whose policies are often vital to Alzheimer’s patients facing the disease’s slow progression and high cost of care. While most patients live four to eight years after diagnosis, some can survive for upwards of 20.[x] Yearly out of pocket payments for individuals with dementia, even with Medicare coverage, are $3,141 when living at home and $21,272 for those in nursing homes and assisted living facilities.[xi]
Individuals with advance knowledge of illness, then, understandably seek to shield themselves from this economic burden. Patients who have undergone genetic testing and discovered the presence of ApoE-4, an allelic variant that indicates an increased likelihood of developing AD, are 2.31 times more likely to subsequently purchase long-term care insurance.[xii] But as Hank Greely, director of Stanford University’s Center for Law and the Biosciences, notes, what is a logical decision and “a godsend for individuals… could be the death knell for the (long-term care insurance) industry.”[xiii]
Adverse selection arises when individuals who are more likely to make insurance claims purchase policies at higher rates than their healthier peers. When this occurs, the insurance company can either universally raise premiums or begin to discriminate based on pre-existing conditions. If legislation were passed that forbade price differentiation on the basis of predicted Alzheimer’s, adverse selection would eventually drive the industry bankrupt.[xiv] So while extant legislation puts patients at risk for insurance exclusion or higher premiums, protective legislation would also harm AD patients by weakening the industry that provides crucial support for the costs of their long-term care.
The first wave of Baby Boomers reached age 65 this year, and in the coming years the U.S. must confront the challenge of caring for more elderly adults with chronic diseases than ever before. Part of that responsibility is good planning. Using biomarkers to diagnose AD at its earliest stages is without doubt a promising step, but the ripples of early detection are far-reaching. As Alzheimer’s prediction capabilities develop, it will be integral to bear in mind the ramifications not only for the patient, but also in family relations, workforce policy, and the long-term care insurance industry.
*The author would like to thank Hank Greely and the Stanford Interdisciplinary Group for Neuroscience and Society (SIGNS) for hosting the informative panel discussion “Predicting Alzheimer’s Disease: Science, Medicine, and Society” that inspired this article.
Vince Alongi. http://farm1.static.flickr.com/89/233836385_7e4c5103ef_o.jpg. Accessed May 10, 2011.
[i] Alzheimer’s Association. 2011 Alzheimer’s Disease Facts and Figures. 2011. Available at : http://www.alz.org/downloads/Facts_Figures_2011.pdf. Accessed April 6, 2011.
[ii] Hoffman J. The Alzheimer’s Project: The Quest for Biomarkers [web].HBO Documentary Films. 2009. Available at: http://www.hbo.com/alzheimers/supplementary-the-search-for-biomarkers.html. Accessed April 26, 2011.
[iii] Neumann PJ, Cohen JT, Hammitt JK, et al. Willingness-to-pay for predictive tests with no immediate treatment implications: a survey of U.S. residents. Health Economics. 2010. Available at: http://onlinelibrary.wiley.com/doi/10.1002/hec.1704/pdf. Accessed April 8, 2011.
[iv] Predicting Alzheimer’s disease: science, medicine, and society. Stanford Interdisciplinary Group on Neuroscience and Society. January 24, 2011.
[v] Predicting Alzheimer’s disease: science, medicine, and society.
[vi] Neumann PJ, Cohen JT, Hammitt JK, et al.
[vii] 2011 Alzheimer’s disease facts and figures.
[viii] Neumann PJ, Cohen JT, Hammitt JK, et al.
[ix] National Human Genome Research Institute. Genetic Information Nondiscrimination Act of 2008. 2010. Available at: http://www.genome.gov/10002328. Accessed April 8, 2011.
[x] 2011 Alzheimer’s disease facts and figures. Alzheimer’s Association.
[xi] 2011 Alzheimer’s disease facts and figures. Alzheimer’s Association.
[xii] Taylor DH, Cook-Deegan RM, Hiraki S, et al. Genetic testing for Alzheimer’s and long-term care insurance. Health Affairs. 2010; 29(1): 102-108.
[xiii] Predicting Alzheimer’s disease: science, medicine, and society.
[xiv] Predicting Alzheimer’s disease: science, medicine, and society.
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