23andMe: The Ethics of Genetic Testing for Neurodegenerative Diseases
by Liana Meffert
The following post is part of a special series emerging from Contemporary Issues in Neuroethics, a graduate-level course out of Emory University’s Center for Ethics. Liana is a senior at Emory University majoring in Neuroscience and Behavioral Biology and Creative Writing (poetry). She is currently applying to Public Health graduate schools and considering a future in medicine. In her free time she enjoys running, reading, and her research on PTSD at Grady Memorial Hospital.
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The face of genetic testing and counseling is in the midst of a major overhaul. Historically, a patient had to demonstrate several risk factors including familial and medical health history or early symptoms in order to be tested for the likelihood of developing a neurodegenerative disease. For the first time, the public has unrestricted and unregulated access to the relative probability of developing certain neurodegenerative diseases.
So why is finding out you may develop a neurodegenerative disease in later years different than learning you’re at high risk for breast cancer? Neurodegenerative diseases are unique in that they essentially alter one’s concept of “self.” Being told you may succumb to cancer at some point in your life is a much different scenario than being told your memories will slowly deteriorate or that the way you relate to your loved ones, or even the very things you enjoy, may change. For the first time in history, the potential for these drastic changes in your “future self” are available at the click of a button.
“23andMe” was* one such DTC (Direct-to-Consumer) genetic testing service providing information for individuals to learn about and explore their genetic susceptibility. When the service was originally launched in 2008, anyone willing to submit a saliva sample and pay a fee could receive a report containing health-related genetic information. I was one of the customers of the original genetic testing service. After several weeks, the time it takes to process a sample, I could go online and view my health-related genetic information. What did I learn? To name a few things: I have a reduced risk of Alzheimer’s and Parkinson’s (possibly), my genetic makeup suggests I am very unlikely to have red hair (true) or enjoy the taste of cilantro (also true).
But what if I had a high probability of developing an untreatable neurodegenerative disease? One that would negatively influence my quality of life in later years? Information such as this leaves the individual in a precarious position, yet the news may not be as detrimental as one would expect. Studies on quality of life after predictive testing for Alzheimer’s Disease (AD), Huntington’s Disease (HD), and ataxias have shown that: “(a) extreme or catastrophic outcomes are rare; (b) consequences commonly include transiently increased anxiety and/or depression; (c) most participants report no regret; (e) many persons report important benefits from receiving the genetic information” (Paulsen, 2013).
Great, right? Not so fast. All of these studies were done in a typical genetic counseling environment, likely equipped with clinical geneticists, genetic counselors, and psychotherapists. As Roberts (2013) addresses in his paper on the practical and ethical issues of genetic susceptibility testing: “the impact of testing on people without post-test counseling is unknown because it is considered standard of care to deliver predictive genetic test results within the traditional genetic counseling model—.” Essentially, the outcomes for DTC genetic testing are unknown. This is a concerning phenomenon that needs to be addressed.
Furthermore, we know relatively little about how our genes interact with our environment, so those official-looking results you get on the internet may not be as “official” as they seem. It may be that a woman in Atlanta with a specific genotype identified by “23andMe” develops a chronic illness, while a woman living on a farm in Iowa with a similar genotype does not. We don’t know. The ability to accurately predict the phenotype (how our genes are actually expressed) is limited. At best, it’s an informed estimate that remains open to interpretation. This is a hard thing to explain over one page on the Internet. Roberts also addresses these concerns in his paper: “APOE [the risk allele in this gene has some predictive value] testing has limited predictive value, and there are currently no proven prevention options for AD; for these and other reasons (e.g., potential psychological and social harms), the medical community has recommended against its use.”
I propose an intermediary: someone to review and screen the results, sharing pertinent information with the patient and putting the results in context when necessary. As of August 2011, two out of thirteen of the companies offering genetic susceptibility testing for neurodegenerative diseases required results to be given through a physician (Roberts, 2013). This is what needs to change, particularly since testing for neurodegenerative diseases is becoming increasingly accessible. In 2013, “nine companies market DTC genetic tests related to risk for AD, nine for MS, three for PD, three for ALS, two for PSP, one for Niemann-Pick disease, one for CJD, and one for vascular dementia (Paulsen, 2013). “23andMe” is one of many, and an increasing number, of companies that will have to negotiate the line between helpful and harmful health information.
Remind me again why neurodegenerative diseases present a special case of ethics?
Neurodegenerative diseases are unique in that they have the potential to change an individual’s sense of self: the discussions surrounding neurodegenerative diseases necessitate a certain level of expertise to guide patients through the appropriate steps in dealing with, and responding to, their results. Regulations should be put in place to prevent consumers, “patients,” from viewing the results of neurodegenerative diseases online, instead re-routing the information to a doctor, genetic counselor, or some other licensed professional. The emotionally laden aspects of neurodegenerative diseases is paramount: person-to-person is much more comforting than your computer screen, or even a “live chat.” The necessity of structured support surrounding such a life-altering disease is ten-fold when it is not just a discussion of how to die, or when to die, but rather, how to live.
*As of September 2013, the FDA suspended “23andMe” from releasing any results of genetic testing out of concern for consumers. The FDA cited concerns of false negatives and positives and overall lack of validity of some of the tests. Similar concerns are addressed in this paper.
References
Paulsen, J. S., Nance, M., Kim, J. I., Carlozzi, N. E., Panegyres, P. K., Erwin, C., ... & Williams, J. K. (2013). A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases. Progress in Neurobiology, 110, 2-28.
Roberts, J. S., & Uhlmann, W. R. (2013). Genetic susceptibility testing for neurodegenerative diseases: ethical and practice issues. Progress in Neurobiology, 110, 89-101.
Robillard, J. M., Federico, C. A., Tairyan, K., Ivinson, A. J., & Illes, J. (2011). Untapped ethical resources for neurodegeneration research. BMC Medical Ethics, 12(1), 9.
Want to cite this post?
Meffert, L. (2015). 23andMe: The Ethics of Genetic Testing for Neurodegenerative Diseases. The Neuroethics Blog. Retrieved on , from http://www.theneuroethicsblog.com/2015/05/23andme-ethics-of-genetic-testing-for.html
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