What you need to know about at-home genetic testing – Alzheimer’s

What you need to know about at-home genetic testing – Alzheimer’s

Perhaps your grandmother had Alzheimer’s, or maybe your mom or dad is currently living with the disease. You may be concerned that you’re seeing signs of the disease in yourself. It’s natural to be curious if a genetic test is valuable in predicting the likelihood of developing Alzheimer’s. Keith Fargo, Ph.D., Alzheimer’s Association director of Scientific Programs and Outreach, answers questions about this type of testing and what the results tell (and don’t tell) you.

Perhaps your grandmother had Alzheimer’s disease; maybe your mom or dad is currently living with the disease. You may be concerned that you are seeing signs of the disease in yourself or a loved one. Whatever the situation, if your family has been touched by Alzheimer’s, it is natural to be curious if a genetic test is valuable in predicting the likelihood of developing the disease. Although the cause of Alzheimer’s is still unknown, scientists have identified a number of genes that impact your risk of developing the disease.

On Thursday, April 6, the U.S. Food and Drug Administration (FDA) announced that they have approved at-home genetic testing through the 23andMe Personal Genome Service Genetic Health Risk (GHR) test, which tests for genes associated with risk of 10 diseases or conditions, including late-onset Alzheimer’s. People will be able to send 23andMe a saliva sample and receive their genetic data back through the mail.

We spoke with Keith Fargo, Ph.D., Director of Scientific Programs and Outreach at the Alzheimer’s Association, about what you need to know about this type of testing – and what the results tell (and don’t tell) you.

Two categories of genes influence whether a person develops a disease: risk genes and deterministic genes. Alzheimer’s genes have been found in both categories. Can you explain the difference between these types of genes?

Risk genes increase the likelihood of developing a disease, but do not guarantee it will happen. Deterministic genes directly cause a disease; they guarantee that anyone who inherits one will develop the disorder.

23andMe says their genetic test evaluates more than 500,000 genes and gene variants. Regarding Alzheimer’s, it evaluates whether you have the APOE-e4 Alzheimer’s risk gene. It was the first Alzheimer’s risk gene identified and remains the one with strongest impact. Having one copy of the APOE-e4 gene increases your risk – having two copies increases it more – but it is hard to say exactly how much for any individual.

There are two other variations of APOE, known as e2 and e3. The e3 variation is relatively neutral and the e2 variation may provide some protection against Alzheimer’s dementia. The newly approved test does not evaluate for these variants. Plus, there are nearly 30 other genes that have been identified to also affect risk of late-onset Alzheimer’s, but (a) those genes don’t impact risk as much as APOE-e4, and (b) this test does not evaluate for them.

There are three more genes that have misspelling in their DNA or mutations where, if you have one, it’s a virtual certainty that you will develop Alzheimer’s dementia. These are the deterministic genes. The 23andMe test does not look for these gene mutations, either.

Part of the challenge with understanding the value of the newly approved test is that many people who have APOE-e4 never experience Alzheimer’s dementia symptoms, and many who do develop the disease do not have any copies of APOE-e4.

For this reason, and because of the current lack of proven preventive strategies, the Alzheimer’s Association does not recommend genetic testing for Alzheimer’s disease for the general population. If you are concerned about Alzheimer’s disease or memory changes in yourself or a loved one, the Association encourages you to have a frank conversation about your risk with your healthcare provider.

If someone’s parent or sibling had or has Alzheimer’s, is he or she at a higher risk of developing the disease?

The fact is this: everyone is already at risk. Of people 85 and older, one third of them have Alzheimer’s dementia. And having a family history of Alzheimer’s is not necessary for someone to develop the disease.

That being said, people who have a parent, brother or sister with Alzheimer’s are more likely to develop the disease, and those who have more than one first-degree relative with the disease are at even higher risk. But, again, it is hard to say exactly how much an individual’s risk may be.

If someone is interested in having genetic testing done, what are the first steps he or she should take?

The Alzheimer’s Association suggests that you talk to a genetic counselor before deciding to take the test and, if you decide to get genetic testing for Alzheimer’s, again after you receive the results. The National Society of Genetic Counselors website provides a searchable directory to locate a counselor by location and specialty.

What are the benefits of speaking with a genetic counselor?

A genetic counselor can help you understand what the test does and does not do. He or she can help you work through making a decision that is best for you in terms of ordering the genetic testing kit. Once you get the results back, he or she can help you determine what the results really mean.

Some people think that this is a diagnostic test for Alzheimer’s, but it’s not. It is a test for the presence of one or two copies of the APOE-e4 Alzheimer’s risk gene. It’s not going to answer the question most people have, which is: “Will I get Alzheimer’s disease?” You can have two copies of APOE-e4 and never develop Alzheimer’s disease. Conversely, you can have no copies of the gene and still develop the disease.

Do you believe that taking a genetic test is a proactive step in controlling one’s health?

For some people, yes. It may give them the motivation they need to make lifestyle changes that can reduce their risk of cognitive decline as they age, and possibly even reduce their risk of dementia. In fact, there are behaviors that we should all be doing to keep our brain healthy as we age. As a starting point, the Alzheimer’s Association has research-based brain health tips that we call 10 Ways to Love Your Brain. You can find them at www.alz.org.

That said, at the Alzheimer’s Association, we are concerned that people who receive results that confirm they don’t carry APOE-e4 will assume that means they won’t develop Alzheimer’s. The truth is that these people are still at risk.

With an unsupervised at-home test, there is a real possibility of people misunderstanding their results, which could result in making misinformed decisions about their health. A genetic counselor can be helpful in making informed decisions. If you choose to take a genetic test, discuss it with a genetic counselor before and after so that you are educated about the process, the test and what the results mean. And if you are already experiencing symptoms of cognitive decline, see a healthcare professional for a full evaluation.

Learn more:

One goal to #ENDALZ – Alzheimer’s Association

One goal to #ENDALZ – Alzheimer’s Association

Purchase a limited edition photo of the Blackhawks Ambassadors signed by Denis Savard, Bobby Hull and Tony Esposito. Proceeds from the photo prints benefit the Alzheimer’s Association, Greater Illinois Chapter. Photos can be purchased at the Michigan Avenue and United Center Blackhawks store locations or over the phone.

Country music legend Campbell to release final album

Country music legend Campbell to release final album

Six years after being diagnosed with Alzheimer’s, country music legend Glen Campbell is releasing his final studio album, “Adiós,” in June. Campbell, in the final stages of the disease according to his wife, recorded the album following his Goodbye Tour in 2011.

2017 Chicago Rita Hayworth Gala

2017 Chicago Rita Hayworth Gala

On May 13, 2017 we will be celebrating the 30th anniversary of the Chicago Rita Hayworth Gala! Last year, this annual spring black tie event attracted more than 800 guests and raised over $1 million dollars for the Alzheimer’s Association. These funds, combined with other donations, have helped the Alzheimer’s Association work toward our vision of a world without Alzheimer’s disease. We hope you will save the date!

In 2017, we will be celebrating the 30th anniversary of the Chicago Rita Hayworth Gala! The event will be chaired by Betsy and David Goltermann and take place on Saturday, May 13th. We hope you will save the date!

Last year, this annual spring black tie event attracted more than 800 guests and raised over $1 million dollars. The Chicago gala committee was led by co-chairs June D. Barnard and Maggie Murzanski. Chicago’s own Jon Harris, senior vice president and chief communications officer at ConAgra Foods emceed the event with Fox Chicago’s Dawn Hasbrouck making a special presentation.

Princess Yasmin Aga Khan began the Gala in honor of her mother, actress Rita Hayworth, who died as a result of Alzheimer’s disease. Under Princess Yasmin Aga Khan’s leadership, over $70 million has been raised through the Chicago, Palm Beach and New York Rita Hayworth Galas. These funds, combined with other donations, have helped the Alzheimer’s Association work toward our vision of a world without Alzheimer’s disease.

Honoring:
Cathy Edge
2017 Civic Award

The Murphy Family
Daniel, JoAnn, Dan and James
2017 Family Philanthropy Award

2017 Master of Ceremonies

 

Jon Harris
Senior Vice President and Chief Communications Officer
ConAgra Foods

More Information

You can make informed choices about treating Alzheimer’s symptoms

You can make informed choices about treating Alzheimer’s symptoms

Remedies, supplements and “medical foods” are often referred to as alternative treatments for Alzheimer’s disease, but they aren’t regulated and don’t adhere to the same standards as FDA-approved treatments. The more you know about Alzheimer’s medications, the better prepared you’ll be to discuss them with your physician, make informed choices and effectively cope with symptoms.

Treatments and Research

The more you know about Alzheimer’s medications, the better prepared you will be to discuss them with your physician, make informed choices about your treatment plan, and effectively cope with symptoms of the disease.


Medications

While there is no cure, prevention or treatment to slow the progression of Alzheimer’s disease, there are five prescription medications approved by the U.S. Food and Drug Administration (FDA) to treat its symptoms.

  • FDA-Approved Treatments for Alzheimer’s
  • Drug name
  • Brand name
  • Approved for
  • Possible side effects
  • 1. donepezil
  • Aricept®
  • All stages
  • Nausea, vomiting, loss of appetite, increased frequency bowel movements
  • 2. galantamine
  • Razadyne®
  • Mild to moderate
  • Nausea, vomiting, loss of appetite, increased frequency bowel movements
  • 3. rivastigmine
  • Exelon®
  • Mild to moderate
  • Nausea, vomiting, loss of appetite, increased frequency bowel movements
  • 4. memantine
  • Namenda®
  • Moderate to severe
  • Headache, constipation, confusion, dizziness
  • 5. memantine + donepezil
  • Namzaric
  • Moderate to severe
  • Nausea, vomiting, loss of appetite, increased frequency of bowel movements, headache, constipation, confusion and dizziness.

The first three drugs are called cholinesterase inhibitors. These drugs prevent the breakdown of a chemical messenger in the brain important for learning and memory. These medications treat symptoms related to memory, thinking, language, judgment and other thought processes.

The fourth drug, memantine, regulates the activity of a different chemical messenger in the brain that is also important for learning and memory. Both types of drugs help manage symptoms, but work in different ways.
> Learn more about these treatments and how they work

Before beginning a new medication, make sure your physician, pharmacist and care team are aware of any over-the-counter and alternative remedies you are taking to prevent drug interactions and unwanted side effects. Be sure to discuss all medications you take with your doctor to understand why they were prescribed and how to take them.
> Questions for your doctor regarding treatments

TIPS FROM PEOPLE WITH ALZHEIMER’S

Medication Safety Tips From People Living With Alz

It’s easy to forget whether you took your last dose and when. Here are some ideas that have worked for other people living with the dementia:

  1. Keep a calendar and check off each dose as it’s taken.
  2. Set up a pill box each night for use the next day.
  3. Set the alarm on your cell phone or schedule dosing around meal times.

> See more tips for managing daily life

Treating sleep changesback to top

Alzheimer’s or dementia may change your sleep patterns. You may have difficulty sleeping, take daytime naps, and/or experience other shifts in your sleep pattern. Researchers are not sure why these sleep changes occur. There are non-drug treatments and medications that may help improve your sleep.
> Learn more about treatments for sleep changes

Alternative treatmentsback to top

There are remedies, supplements and “medical foods” that are often referred to as alternative treatments. Alternative treatments are not regulated and do not need to adhere to the same standards as FDA-approved treatments. Claims about their safety and effectiveness are based largely on testimonials, tradition or a small body of scientific research.

If you are considering taking an alternative treatment, talk openly with your physician. It is important to be aware of any risks so you can make an informed decision. Even if advertised as “natural,” alternative treatments can involve potentially powerful substances that have not met the FDA standards for effectiveness or safety, and some alternative medicines can cause unintended reactions when taken with prescription medications.
> Find out the facts about alternative therapies

Here is a list of questions to ask when considering an alternative treatment or supplement:

  1. Did the FDA test the product? If so, what were the results?
    The FDA may have tested a product, but found it to be ineffective for the intended purpose. The company may still release the product as a medical food, either with or without changes.
  2. Has any non-FDA testing been done? If so, what were the results?
    Does the testing entity have a vested insterest in the outcomes? For example, was testing done only by the company developing the product? If so, the results may not be entirely reliable.
  3. Does the developer of the product or the person recommending it to you have a potential financial gain from the use of the medication?
    If so, use extreme caution. Check with your care team to see if they have any questions or concerns with your plan to use it.
  4. Is the product compatible with the other medications you are taking or with your diagnoses?
    Be sure to check with your doctor or pharmacist to find out whether the product could cause negative outcomes given your diagnoses and any medications you are taking.
  5. Does use of the product have any known risks?
    Ask your doctor or the pharmacist if the product has any known side effects.

Research into tomorrow’s treatmentsback to top

Many researchers believe successful treatment will eventually involve a “cocktail” of medications aimed at several targets, similar to current treatments for many cancers and AIDS.

Researchers are conducting studies to find new interventions and treatments that can prevent Alzheimer’s, diagnose the disease earlier, slow its progression or stop it in its tracks.

Scientists are investigating future treatments called “disease-modifying drugs.” These drugs aim to modify the disease process itself by having an effect on one or more of the many wide-ranging brain changes that Alzheimer’s causes. These changes offer potential “targets” for new drugs to stop or slow the progress of the disease. These promising targets include beta-amyloid and tau protein (hallmarks of Alzheimer’s brain abnormality); inflammation; and insulin resistance.
> Learn more about future treatments
> Research Center

Participate in clinical trialsback to top

Recruiting and retaining trial participants is now the greatest obstacle, other than funding, to developing the next generation of Alzheimer’s treatments. You can help change this by participating in a clinical research study.

To find a clinical trial, use Alzheimer’s Association TrialMatch® or call 1.800.272.3900 (line open 7 a.m.– 8:30 p.m. CT, Monday through Friday.)

TrialMatch® is a free, easy-to-use clinical studies matching service that connects individuals with Alzheimer’s or dementia, caregivers, healthy volunteers and physicians with current studies.

Once you qualify for a trial, you will work with the trial research team to understand the benefits and risks of participating before making a final decision and signing an informed consent form. You will be going through this process with the people conducting the study, rather than your doctor. Many studies require that you bring a family member or caregiver with you to the interview, so make sure to ask the research team about this and any additional questions you may have.

The next time you visit your doctor, ask if a clinical trial might be right for you. Your doctor knows you and your health history, and can help you gather the information needed to locate a trial and help you identify what questions might be important to ask before deciding to participate.

Learn more:
> How to use TrialMatch®
> What are clinical trials
> How trials work
> Benefits of participating in a trial