By Joyce Lee
But Alzheimer’s is a disease currently with no successful prevention method, and so this kind of test raises a critical question: how will people who test positive for biomarkers of Alzheimer’s disease understand and grapple with such sensitive health information, and what can physicians, policymakers, and the wider community do to help them make sense of this information?
Though these blood tests for Alzheimer’s disease do not yet exist, there are genetic tests currently on the market that reveal personal risks of developing Alzheimer’s disease. Among the most well-known is the ApoE gene test; if you carry two copies of the ApoE variant 4 gene, you have an increased risk of later developing Alzheimer’s disease. PET scans and spinal taps examining the levels of amyloid plaques in the brain and cerebrospinal fluid – long associated with Alzheimer’s disease – might also reveal greater susceptibility to develop Alzheimer’s disease dementia in individuals who are still cognitively healthy. These tests, which predict future cognitive decline, are currently giving rise to a group of people termed “preclinical Alzheimer’s,” or those who don’t have cognitive impairment yet but are likely to develop it in the future.
Patients who fall into this “preclincal Alzheimer’s” category may have worries not only about the onset of disease itself, but also about the social implications from sharing this information. One patient, referenced in the Times column, decided to keep her knowledge that she is an ApoE4 carrier a secret from everyone but her closest friends, citing fears of not being taken seriously in her career as a lawyer, of being denied insurance or long-term disability benefits, and perhaps most pressingly, of carrying the stigma of the disease.
“We have to make it socially acceptable to talk about having risk of getting dementia,” PMC co-director Dr. Jason Karlawish said. “I think that is one of the ground zero struggles we are going to face in the coming decades.”
At the Penn Memory Center, Dr. Karlawish conducts research on how patients respond to learning about Alzheimer’s disease genes and biomarkers and how healthcare providers can best deliver such information to people. These studies include the SOKRATES studies, short for Studies Of Knowledge and Reactions to ApoE and Amyloid Testing. His research group recently published the findings on how persons interpret an “elevated amyloid” result. Other research is examining the determinants of stigma and how awareness affects self rated quality of life.
Critically, though, it’s not that patients who fall into this category of “preclinical Alzheimer’s” can’t change their fate: the “unpreventable” disease of Alzheimer’s is now gradually being associated with health behaviors that include improperly managing diet and exercise. But researchers still know very little about the underlying causes of Alzheimer’s and interventions that attack these causes. This means that many patients are finding themselves active researchers of their own disease, becoming pioneers and advocates in their own right for this disease that so predominantly affects their lives.
Predictive testing for Alzheimer’s disease is one instance in which screening for the disease – in the form of blood tests, genetic tests, or brain scans – is moving faster than treatment or prevention methods can catch up, and patients are dealing with the consequences of this gap in information and research. As such, the rise of patients and advocates for Alzheimer’s disease is needed more than ever, to join the conversation about about living with the disease, about the risk of getting it, and about what to do about it.
For the full article, please visit the New York Times.