Week of May 25 - May 31, 2008

Alzheimer's Weekly takes a closer look at The Alzheimer's Mirror, a newly released genetic test for Alzheimer's.

• What is the real story behind the product?
• Is it an accurate indicator that you may be at risk to develop Alzheimer's?
• Will this test bring you peace of mind or will it negatively affect the rest of your life?

Article continues below the video.

Articles have appeared in newspapers around the country and the television screen is filled with doctors explaining Alzheimer's, what the test does and how they feel about it. Parade Magazine found the topic important enough to carry out a survey on it (and as of this writing 89% of the people polled said they wanted to know if they were at risk for Alzheimer's). In short, everybody is talking about it. 

The increasing numbers of possible Alzheimer's victims over the next decade has turned the genetic test's release into a media news happening. According to the Alzheimer's Association, an estimated 5.2 million Americans have Alzheimer's, a figure that is expected to grow to 454,000 new cases a year by 2010, and up to a million new cases per year by 2050!

 Simple, Safe and Non-Invasive

The Alzheimer's Mirror test itself is safe, simple to do and non-invasive. It uses technology that has been around for years. A saliva sample is all that you need to get results.

Smart Genetics, the manufacturer, sells the test for $399 and it can be ordered via the internet from almost anywhere in the world. The test kit is basically a small collection container into which one spits four or five times in the privacy of one's home. The sample is then sent in a secure envelope to the company lab. Your test results arrive by telephone.

An important point: The test does NOT tell you whether you are a definite candidate for Alzheimer's. It only tests for the presence of three parts of the apolipoprotein E (APOE) gene (APOE2, APOE3 and APOE4) found in your saliva. The APOE gene has been linked to Alzheimer's by many different research studies.

Everyone inherits two of these genes—one from each parent. Some people receive two different genes and some receive two of the same. Studies have shown that those who carry two copies of the APOE 4 gene have a 50% higher chance of developing the disease than the rest of the population (who only have a 10-15% risk). In addition, those with a double APOE 4 gene often get the disease earlier and those who already have a family member with Alzheimer's have a 40-45% chance of getting the disease before they reach the age of 70.
 
The APOE gene matters because it is believed to inhibit the clearing of the protein beta amyloid, allowing it to build up as plaque deposits which are found in the brains of Alzheimer patients.

"Hundreds of research studies have confirmed the link between APOE and Alzheimer's," says Richard Watson, chief technical officer and co-founder of Smart Genetics.

But the fact is that even if someone carries all the markers and has a poor risk profile, it may still not be an indication of whether he will actually develop Alzheimer's.

 No Government Controls on DNA Testing Yet

The Alzheimer's Mirror does not require FDA approval. Thus far, it is not required for any DNA testing. As a result of the lack of regulations for genetic testing, many such tests may provide results of poor quality.

Smart Genetics chose the Athena Diagnostics CLIA-certified laboratory as its partner to perform the lab analysis work. Athena Diagnostics has 40 years of experience in this area of testing. All their testing is regulated by the Centers for Medicare & Medicaid Services (CMS) under the Clinical Laboratory Improvement Amendments (CLIA). CMS regulates all laboratory testing performed on humans in the U.S. The test itself is an exclusively-licensed procedure patented by Duke University in 1992, making it a tried-and-true technology.

One of the arguments against testing for Alzheimer's is the fact that currently there is still no cure; at best, medications and activities may only slow down its onslaught. Many doctors and other health care professionals do not see the point of testing for a disease that cannot yet be cured. But for many potential Alzheimer patients, knowledge is power and they wish to know their own personal risk factor.

Articles by doctors in The Journal of the American Medical Association and The New England Journal of Medicine point out that because not all the genetic variations that are linked to a specific disease are known, it is impossible to accurately figure out risk factors, as the unknown factors cannot be figured into the equation. This could have a significant impact on the probability of the onset of any specific disease.
 
William Thies, the Alzheimer's Association's vice president for medical and scientific relations is also critical of popular testing for Alzheimer's. "There are lots of people with APOE4's who don't get Alzheimer's," he says. "There are those who are high risk who may never get the disease while those who are not at risk at all who do."

"The Alzheimer Mirror helps people understand their risk for getting the disease compared to the average risk," says Mr. Watson. "We do not test for the disease itself. No genetic test can determine if or when a disease will manifest itself." In addition to the genetic test, part of the company's testing process includes taking into consideration non-genetic risk factors such as family history, age and gender which are critical in assessing an individual's overall risk of developing Alzheimer's.

 Dealing with the Downside of Testing

The REVEAL clinical test trials, ongoing for ten years, show that genetic testing can be offered in a safe and beneficial manner, say the people at Smart Genetics. But when test results of clinical studies on genetic testing are read, it is obvious that many of the participants had negative reactions. It is this point that is perhaps the most serious of all criticism against genetic testing.

How will a client react if he finds out that he is highly susceptible to Alzheimer's? What happens when someone is told they carry all the genetic markers? Does learning that one is at high risk result in serious depression and even suicide? Or does it motivate a person to prepare positively for the future by eating better, exercising their mind and body more, carrying additional insurance, and taking early action on legalities such as wills and advance directives? The many tests that have been carried out in the field show mixed results.

Genetic testing has been monitored over the years and protocols have been set up for dealing with the reactions of those being tested. Genetic counseling seems to be the way the experts recommend dealing with post-testing depressions and problems.

Smart Genetics has set up just such a service to prevent negative fallout from those whose results show a high risk for developing Alzheimer's. Simply, everyone is required to have this post-test genetic counseling prior to receiving their results. The counseling sessions are scheduled for 30 minutes and each customer is offered an optional follow-up counseling session at no extra charge. This gives people time to react to their results and ask additional questions. In addition, there is a pre-test questionnaire which will screen out anyone with negative tendencies from taking the test.

 Genetic Counseling Techniques

"The benefits of testing," explains Karen R. Hanson, a board certified genetic counselor with almost 18 years of counseling experience and the director of clinical operations for Smart Genetics "include a better understanding of your risk, more information about your health, removal of some degree of uncertainly and often, reassurance.  For those identified as being at high risk, the benefits include the chance to make lifestyle changes that may reduce the risk and increase the impetus to plan for the future."

"In general," says Hansen, "people find this type of information empowering and tend to adapt very well. REVEAL, a clinical trial, has shown that people do not have long term emotional problems after learning their risk for developing Alzheimer's.   I expect our experience to be the same."

"One way that I help people adapt to this information," explains Hansen, "is to give them an anchor.  In other words, we are all at risk to develop Alzheimer's. No one starts out at a baseline of zero. There seems to be a certain amount of comfort in understanding more about your risk for Alzheimer's - whether it's making lifestyle changes or becoming involved in research or just keeping up with the latest news on Alzheimer's. It seems to give people a sense of strength. Also, I think that understanding that there may be ways to modify your risk helps. There is no one method that works best for everyone and so even though there are standard things I cover when I talk to people, I also take a very individualized approach."

Jennifer Williamson, a genetic counselor at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H. Sergievsky Center at Columbia University, New York is also a strong supporter of genetic testing. "Some initially resist the idea of multiple counseling sessions" she says. "They simply want to know the result of this blood test. But believe me, after going through the process, they really benefit from it. Counselors are in tune to the issues that arise."

Those taking the test claim that it enables them to plan their finances, arrange long-term care for themselves and a will. While it is important to realize that genetic testing can indeed help you address many of these issues, genetic counselors explain that everyone should prepare for their futures with good health, legal and financial planning, such as drawing up future Advance Directives. And physical as well as mental exercise is always recommended.

Can Good News Be Misused?

Everyone who grows old begins to forget things and by taking this test many people find out that they do not carry the mutation at all. Dr. David Altshuler of the Broad Institute in Cambridge, as quoted in the Boston Globe, is concerned that genetic tests can give consumers a false sense of security. If someone takes the test and finds out he doesn't have a disease he may then behave in an irresponsible way.

 Fears that Test Results Won't Remain Private

Another negative result of genetic testing is the fear by patients that the information gleaned from the tests will be used against them.

In the United States this week, President Bush signed into law the Genetic Information Non-Discrimination Act (GINA). According to the new legislation, those tested will no longer have to worry about losing their jobs or their health insurance.

Whether genetic testing is a good thing or a bad thing is still a matter for debate. But one thing is certain: Genetic testing is here to stay and becoming more popular every day.

MORE INFORMATION:

 website.

SOURCES:

Gabrielle Strobel, Genetic Testing and Counseling for Early-onset Familial Alzheimer Disease, alzforum.org

Rita Rubin, Test can tell if you're destined for Alzheimer's, but then what? USA Today

Smart Genetics LLC

ARTICLE BY:

Roberta Bienenfeld, Alzheimer's Weekly

Reviewed for medical accuracy by Dr. Boaz Ancselovic, MD, Geriatrician, Alzheimer's Weekly

COPYRIGHT:

Copyright © 2008. Alzheimer's Weekly LLC. All rights reserved.