According to a new editorial piece published in the Journal of Alzheimer’s Disease, individuals looking to learn their risk of developing dementia should think carefully before they order a direct-to-consumer (DTC) genetic testing kit. The authors of the article – who are members of the Alzheimer’s Foundation of America (AFA) Medical, Scientific & Memory Screening Advisory Board – are urging consumers to consider speaking with their primary care provider, along with a genetic counsellor, before pursing genetic testing for Alzheimer’s.
“Before pursuing any kind of genetic testing, it is essential that consumers are fully informed and understand the benefits, limitations and other implications of learning one’s personal health information,” said Charles J. Fuschillo, Jr., President and CEO of the AFA. “This includes having insight on how a test result might impact the individual and their family emotionally, particularly in the case of Alzheimer’s in the absence of a cure, or an effective treatment.”
At-home genetic tests like 23andMe aren’t diagnostic in nature, meaning they can only give individuals an idea of their genetic predisposition to developing diseases like Alzheimer’s. These tests often look at apolipoprotein-E (APOE) status as a predictor of late-onset Alzheimer’s disease.
“To begin with, people may wrongly confuse genetic risk with genetic certainty—or a diagnosis; the distinction between risk and causation must be made clear to consumers. APOE genes affect the probability of developing Alzheimer’s, but APOE does not by itself cause the disease,” cautions Dr. J. Wesson Ashford, Chairman of AFA’s scientific advisory board. “It is important to understand that many individuals who have the APOE susceptibility gene never get Alzheimer’s. At the same time, not having an APOE susceptibility gene doesn’t mean that person will never develop Alzheimer’s in their lifetime.”
The study authors also expressed concerns that an individual’s Alzheimer’s risk status could be used to preclude someone from being able to purchase insurance products, or could raise their premiums.
“While the current Genetic Information Nondiscrimination Act (GINA) offers some protections, in a few states—long-term care insurance and life insurance companies still have the right to ask if an individual knows their genetic status and adjust long-term care insurance premiums accordingly,” says Fuschillo. “Therefore, the ways in which personal health information—including genetic status—could be used has important implications, posing risks to consumers over which they may have little control.”
However, knowing whether you are at an increased risk of developing Alzheimer’s disease later in life has its benefits. In addition to making lifestyle changes, those aware of their genetic predisposition to Alzheimer’s could be more likely to benefit from early detection and be eligible to participate in research.
“It’s worth noting that those with normal cognition and a genetic predisposition for Alzheimer’s may elect to enroll in clinical trials aimed at delaying the onset of Alzheimer’s-related symptoms, or preventing it altogether at some point,” said Lori Frank, a member of AFA’s scientific advisory board.
AFA advocates for standardized consumer guidelines which could be used by all genetic testing companies to properly inform and educate individuals on their risk of developing Alzheimer’s. However, increased training for physicians could also go a long way towards helping them speak with patients about their DTC genetic test results and providing them with guidance and further resources, if necessary.
“While physicians certainly could provide appropriate guidance about risk and offer insights into treatment options, the reality is that most clinicians lack the training and report feeling ill equipped to address genetic test results,” said Frank. “In our view, given the rapidly growing use of genetic testing, training in interpreting and explaining the genetic test results should be included in the education of health professionals. This training can address when referral to genetic counseling is appropriate.”