About Genetic Testing
Considering Genetic Testing: For People with FTD
There are many reasons that someone with FTD or symptoms suggestive of the condition may want to consider genetic testing.
Confirming an FTD Diagnosis
While FTD is understood to be the most common cause of dementia for people under 60, (Knopman et al., 2011), it is frequently misdiagnosed. Common misdiagnoses for FTD include Alzheimer’s disease, depression, bipolar disorder, anxiety, mild cognitive impairment, or Parkinson’s disease. Many individuals with FTD are never given an accurate diagnosis.
While genetic testing cannot by itself diagnose FTD, it can be used—along with an assessment of clinical symptoms, imaging, and other assessments—to help determine if someone has FTD or another cause for their symptoms. Reaching the correct diagnosis is important in order to identify available treatments for symptom management, and to better predict disease progression.
For individuals with a known family history of FTD, genetic testing can help to identify future risk of developing symptoms. Someone without symptoms could get tested for all of the genes associated with FTD or, if there is a known genetic variant in the family, a lab can more efficiently confirm or rule out that variant.
Some people without a known family history of FTD have been found to have a genetic variant. If you have questions in this area, you may benefit from talking to a genetic counselor. They can help you to consider how genetic testing may be helpful in risk assessment for genetic FTD.
The results of genetic testing can have significant implications for family members. Most cases of FTD are sporadic rather than genetic. However, all known genetic forms of FTD are inherited in an autosomal dominant fashion, which means that the children of an affected person have a 50% chance of inheriting the genetic variant associated with FTD.
Availability of Future Treatments
Scientists are developing treatments that target specific genes that cause FTD, and these are very likely to be the first effective disease-modifying treatments. Only individuals with variants in the targeted gene will be eligible for those treatments once available.
Eligibility to Participate in Clinical Trials
New therapies for FTD cannot be developed without clinical trials, and those clinical trials will not succeed unless there are enough people eligible and willing to participate. People with specific genetic variants are uniquely eligible for many of the clinical trials underway to develop new therapies. While it’s important to carefully assess the benefits and potential drawbacks of learning your genetic status, learning it can ultimately help you to take charge of your FTD journey, and make a difference that could potentially benefit yourself, family members, and future generations.
What Should Unaffected Family Members Consider?
Watching a loved one face FTD can raise questions and concerns about one’s own risk for FTD. Anyone concerned that they may have an inherited FTD gene should consider talking with a genetic counselor about their risk. A counselor can also discuss with you the benefits and limitations of genetic testing. Making the decision to pursue genetic testing for FTD can be a difficult and very personal decision. Some common considerations when thinking about genetic testing include:
- Family planning
- Financial planning
- Privacy considerations
- Insurance coverage, including life insurance and long-term care
- Early treatment/prevention options
In summary: genetic counselors are a great resource to help you understand personal risk and decide on genetic testing for yourself. Read more about what to expect from genetic counseling here.
How Does Genetic Testing Work?
Genes are the instructions that make you, you. Just like a recipe book, genes are spelled out in letters (ATCG) in a particular order that tells your body how to look and function.
Genetic testing is like proofreading your genetic recipe book. By looking at select genes associated with FTD, the lab can identify whether there is a change (called a variant) that is associated with FTD.
Genetic variants can have harmful, beneficial, neutral (no effect), or unknown or uncertain effects on one’s risk of developing FTD. Harmful variants in some genes are known to cause FTD. Most people with a genetic variant that causes FTD have a family history of the disease. But not all do. Some people with seemingly sporadic FTD are found to have genetic variants that cause their disease.
What Happens During the Genetic Testing Process?
A genetic counselor can offer you the best insight on this process, and AFTD strongly recommends that you consider genetic counseling prior to making a final determination about pursuing a genetic test. A genetic counselor will discuss the contribution of common FTD genetic variants, as well as other considerations related to genetic testing, including:
Who to Test First?
In some cases, the person who is seeking genetic counseling is not the best person to test. The genetic counselor may recommend testing someone else in the family first, usually someone with symptoms.
Risks and Limitations of Testing
The risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. Genetic testing may result in feelings of anger, depression, increased anxiety, or guilt about the results. Genetic testing may also make it challenging to get life insurance, long-term care, or long-term disability insurance.
Although genetic testing can provide valuable information, there are still some limitations. At this time, scientists have identified some of the genes associated with FTD, but others may remain unknown. Genetic testing therefore may not be able to entirely rule out the possibility of an inherited risk for FTD in some people. In addition, genetic testing cannot determine if a person will absolutely show symptoms of a disorder, at what age symptoms may start, how severe the symptoms will be, or how quickly the disorder will progress over time.
The Benefits of Testing
Genetic testing has potential benefits, whether the results are positive or negative. Test results can provide a sense of relief from uncertainty. They can help people make informed decisions about health care, finances, reproduction, and other key life decisions. In some cases, testing may open the door to new therapies under investigation or other research that contributes to the advancement of the understanding of FTD. Some experimental treatments are being developed for people with certain genetic variants; people with those genetic variants are needed as participants in clinical trials.
Considerations and Implications When Testing
Unlike most other medical tests, genetic tests can reveal information not only about those being tested but also about their relatives. Family members may have different opinions about whether they want to learn about a genetic variant in the family. Health discussions may get complicated when some family members know their genetic status while others do not want to know. In addition, family relationships can be affected if a family member discloses genetic test results that have implications for other family members. Thinking through family dynamics in advance of testing, and talking to family members about an interest in testing and testing plans, may influence who an individual shares their results with, if they choose to proceed with testing.
A law in the United States, called the Genetic Information Nondiscrimination Act of 2008 (GINA), helps protect people who have genetic variants (and/or a family history of genetic disease) that may affect their health. GINA prevents employers and health insurance companies from using genetic and family history to make coverage or cost decisions. GINA does have some limits; for example, GINA does not apply to life insurance, disability insurance, or long-term care insurance. Providers of such coverage can therefore ask about genetic and family history information and use that in their decision-making about providing coverage for you. GINA also doesn’t protect people who work for companies with fewer than 15 employees. In these companies, insurance companies may request genetic testing records as part of a determination of coverage for services. A genetic counselor can help you understand insurance privacy questions.
The cost of genetic testing can vary widely. In some cases, testing will be covered by your insurance company, and you will only be responsible for your co-pay, co-insurance, or deductible. In other cases, you may choose to self-pay for testing; with costs ranging from $250 to more than $500, depending on the genes tested. (Some labs offer financial assistance to help with these costs.)
In addition, genetic testing may be available at no charge through some research studies such as the ALLFTD study, or through testing programs sponsored by pharmaceutical companies. Click here to read more about no-cost genetic testing options.
Healthcare providers are required to protect the privacy of your health information under a law called HIPAA (the Health Insurance Portability and Accountability Act of 1996). This law says that healthcare providers can’t share your health information with others without your permission, unless the information is being shared with another healthcare provider (or lab) as part of your care.
Some other entities involved in your care, like your insurance company, can also access your health information to make decisions about services they will cover. In some cases, you may be asked for special permission (informed consent) to share your health information with researchers. Many labs have policies that allow them to use your data or your DNA sample—without your name or other information that would identify you—to develop new tests. They may also be able to share your data, stripped of your name and other identifying information, with pharmaceutical companies.
A genetic counselor can provide information about the privacy policies of the lab and the healthcare organizations you are working with.
Readiness for Testing
For some people, the decision to test or not can be challenging. Ultimately, it is a personal decision. Talking with a genetic counselor about your motivations for testing, and any reservations you may have can help clarify whether it is the right time to pursue testing. Meeting with a genetic counselor should be seen as a way to gather information from a trusted source.
You are never obligated to proceed with genetic testing. Some people who meet with a genetic counselor decide the time is right, while others choose to wait; some decide to proceed with testing in the future, while others never pursue testing.
People who are not ready to pursue genetic testing at the time of their consultation with a genetic counselor may want to consider DNA banking. DNA banking allows people to save a DNA sample for future genetic testing.
Once a decision about genetic testing has been made, sample collection is simple. Most labs provide a saliva collection kit that can be obtained from the genetic counselor or mailed to a person’s home. The collection kit typically includes everything needed for collection, detailed instructions, and materials to ship the saliva back to the lab (including pre-paid postage). Saliva is collected via a “buccal swab,” which uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. In rare cases a blood sample is needed. Blood draws can either be arranged through the genetic counselor, or, in some cases, a home draw can be arranged by the laboratory. Results are typically available within 2-4 weeks of submitting your sample.