With June being Alzheimer’s disease and brain awareness month, I began talking to my colleague about the genetic forms of dementia. While discussing the overall goal of the month, she asked me what the advantages are of early detectaion for Alzheimer’s disease and other degenerative brain disorders. This question really got me thinking. In my mind, I break it into two categories. One category is for people who are already showing signs and symptoms of dementia and the other category is for those who aren’t, but maybe at risk of developing dementia due to an inherited predisposition to dementia.
Planning for the Future with Dementia
In a clinic setting, I would often hear clients saying that dementia is the cruelest of conditions. It is often the close loved ones who initially notice slight differences or changes that turn out to be the onset of the dementia. With dementia, the affected person slowly loses their abilities and memories until they are no longer there. An early diagnosis of possible or probable dementia, although difficult to come to terms with, could have a number of advantages. First, it means that they can seek appropriate healthcare. Appointments can be made to see geriatricians, neurologists and or psychiatrists who specialize in dementia. Once a diagnosis has been made, it can help patients and their families plan for the future. As mentioned above, slowly an affected person will lose the skills needed for daily activities, which will need to be managed and planned by their affected person and their family. It is important for an affected person and their family to consider living arrangements as well. Planning for the future may also include taking care of legal and financial matters.
Predictive Testing for Alzheimer’s
There are various types of dementia. with Alzheimer’s being the most common type. Most cases of dementia are not familial, that is, are not due to a strong genetic link running through a family. However, there is a small percentage of cases where the dementia is due to a dementia gene that is not working properly. In these families, if an affected person has had genetic testing and a disease-causing variant is identified, this means that unaffected family members can have predictive testing before they become symptomatic. Research has shown that although people who are at risk want to have access to predictive testing, in practical terms, less than half the people at risk have predictive testing done. Some argue that because there are no preventative treatments and no medications that can cure the symptoms, there is no point in finding out if they have the disease. On the other side, the people who choose to undergo predictive testing list several benefits. Some of those benefits include the comfort that goes with just having an answer. I heard quite often in the clinic people say things like, “I’ve had this hanging over my head for years. I’m always thinking about it, now I just want to know yes or no whether I’m at risk”. There is also a huge benefit to those that test negative (although many of these fortunate people go on to have feelings of survivor guilt). People may use this genetic knowledge in family planning. If someone tests positive, they may choose not to have children or to use IVF technology to make sure that the causative gene is not passed on. Others want this information for general life planning. If they test positive, they may decide to have children at a younger age or travel the world at a younger age or choose a different profession. Deciding whether not to move forward with predictive testing is a huge decision. To help families weigh the pros and cons of testing, many people undergo genetic counseling.
Types of Predictive Testing Available
If someone who is showing symptoms of dementia undergoes genetic testing, there is no guarantee that a faulty gene change will be identified. It is a little bit like looking for a needle in a haystack. The laboratory needs to look at many genes in great detail. However, if a disease-causing gene change is identified, this becomes known as the family specific variant, as faulty changes can be unique between families. Once it has been identified, then the lab is able to look for it relatively easy in unaffected people to see whether they are living with an increased risk.
Why Baylor Genetics?
Improving healthcare is at the core of who we are at BG. Through continuous innovation and research, our team is equipped to provide physicians the best results for their patients. We are able to diagnose rare diseases and disorders because of our existing large-scale, high-throughput capabilities and our CLIA-certified, CAP–accredited laboratory.
To learn more about our genetic tests, visit: https://test-dev.baylorgenetics.com/