Safeguards needed to stop discrimination
Despite the emergence of new tools that can diagnose Alzheimer's earlier, no effective interventions have been identified to stop the progression of the disease. A new report from the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, tackles the ethical and logistical challenges of safely and effectively communicating a diagnosis of pre-clinical Alzheimer's disease in light of the gulf between diagnosis and treatment.
The study appears in the journal Neurology1 and was sponsored by the Marian S. Ware Alzheimer Program and a Robert Wood Johnson Investigator Award in Health Policy Research.
Alzheimer's disease is among the most feared diseases of aging. The disease has been known for its role in memory loss and other clinical symptoms. But increasingly, patients learn they have the disease before symptoms start impacting their ability to function in daily life.
"We need to develop systems now, to navigate the challenges of a pre-clinical Alzheimer's diagnosis," said Jason Karlawish, MD, professor of medicine and medical ethics and author of the paper. "It's only a matter of time before we are able identify Alzheimer's before the patient is ill, like we've done with cholesterol and heart disease. Given the unique nature of this disease, which strips people of their independence as the disease progresses, safeguards are needed to protect those at high risk or with a pre-clinical diagnosis."
On the individual level, people strongly differ in their desire to know their risk and will react differently to a high Alzheimer's risk score or diagnosis in the early stages of the disease. In some cases, biomarker test results can be harmful; patients might develop anxiety or serious depression. To safely and effectively communicate a diagnosis of pre-clinical Alzheimer's disease, Karlawish recommends that researchers and clinicians track the emotional and physical impact of a pre-clinical diagnosis, then develop and disseminate best practices. (For information on a controversial genetic test for Alzheimer's, see related story, below.)
When an effective Alzheimer's therapy or intervention is found, a process will be necessary to ensure the patients who stand to benefit most are prioritized accordingly. Prognostic and predictive evidence should be gauged against not only an individual's risk but the entire population at risk, especially if failure to intervene could cause large numbers of people to be impacted by any disease progression. A "National Alzheimer's Education Program" is proposed, to address how to translate research results into clinical practice for those with pre-clinical disease.
"The Alzheimer's disease label does not equate to disability," said Karlawish. Tto ensure that patients' daily lives, i.e. driving, financial planning, work status, aren't negatively or prematurely limited, laws and policies need to be revised to prevent stigma, discrimination and, when patients do suffer disability, exploitation, he says.
"The discovery of pre-clinical Alzheimer's disease may be how we prevent the tsunami of Alzheimer's disease dementia, but we must not drown in the challenges created by our own discovery," warned Karlawish.
Reference
- Karlawish J. Addressing the ethical, policy, and social challenges of preclinical Alzheimer disease. Neurology 2011; 77:1,487-1,493.
Controversial test may predict Alzheimer's There is a new, controversial genetic test of a gene called Apolipoprotein E (APOE) on the horizon. APOE is a susceptibility gene where certain variants have been found to significantly increase a person's risk of developing Alzheimer's disease. That gene, along with a family history of Alzheimer's, greatly increases the risk of developing the disease. The genetic test was conducted as part of the Risk Evaluation and Education for Alzheimer's disease Study (REVEAL), a series of clinical trials taking place at University of Michigan School of Public Health (U-M SPH), Ann Arbor, with other sites including Harvard University, Boston, Howard University, Washington, DC, and the University of Pennsylvania, Philadelphia. APOE testing is controversial in the medical community because the variant is neither necessary nor sufficient to cause Alzheimer's disease. This limitation, along with a general lack of treatment options for Alzheimer's, has raised concerns that the genetic information could burden rather than benefit patients. There have been numerous consensus statements and articles against using APOE genotyping for predicting Alzheimer's risk. However, most of the study participants who took the test wanted to learn about their APOE test results and were not overtly distressed by them, said Scott Roberts, PhD, associate professor at U-M SPH and co-principal investigator of REVEAL, along with Robert Green, MD, MPH, fellow in genetics, professor of neurology, genetics, and epidemiology at Harvard University School of Medicine. The National Society of Genetic Counselors and American College of Medical Genetics recently developed practice guidelines1 for genetic counseling and testing for Alzheimer's disease. Roberts is one of the authors. The guidelines provide clinicians with a framework for assessing their patients' genetic risk for Alzheimer's disease, identifying which individuals might benefit from genetic testing, and providing the key elements of genetic counseling. Alzheimer's disease is traditionally subdivided into early onset and late onset types. Early onset occurs before age 60–65 years and accounts for 1-5% of all cases, while late onset occurs after 60–65 years and is the predominant form. Reference
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