No-Cost Genetic Testing
Genetic testing is sometimes available at no cost through research studies such as the ALLFTD study, and through sponsored testing programs.
These programs often have specific benefits (including being no cost) but also have unique limitations and risks that may influence your decision to use them. AFTD strongly encourages you to talk with a genetic counselor about the benefits and risks of genetic testing for you and your family. Talking to a healthcare provider or study coordinator and asking detailed questions is also recommended, as special considerations vary by program.
Genetic Testing as Part of a Research Study
Research studies collect data to answer a specific research question. To enroll in the study, potential participants must agree to activities that will allow that data to be collected.
The activities involved may be tests (genetic tests, psychological tests, etc.), treatment with therapies (drugs and other types of intervention like speech therapy), reporting of symptoms, or other activities. Typically, there is no cost to participate in a research study. The cost of research may be covered by a grant from the government, a patient advocacy group, or a pharmaceutical company.
Research participation is always voluntary. Potential study participants will be given information about the study and asked to sign an informed consent form to participate. The FTD Disorders Registry offers additional guidance and resources regarding participation in research – find more by clicking here.
When genetic testing is included as part of a research study, there are some important questions to ask:
What genes are included in the test?
Consider whether this is the right test for you. There are more than 12 genes (Greaves and Rohrer, 2019) that have been associated with FTD, of which three (C9orf72, GRN, and MAPT) account for the majority of people with FTD with an identified genetic variant. Ask whether all three of these genes will be included in the test. If you have a known genetic variant in your family, you’ll need to determine whether this test includes the variant relevant for your family.
Are there any key test limitations?
The testing done as part of a research study is designed to meet the needs of the research project but may not be comprehensive. Be sure to ask how the test differs from a clinical test (it may not differ at all) and what the test limitations are.
Is the test done in a clinical lab?
Sometimes genetic testing done for research purposes is not performed in a lab that meets clinical standards. Labs that want to return results to the participants must have CLIA certification (CLIA is the Clinical Laboratory Improvement Amendment). In some cases, the initial testing is not performed in a CLIA-certified lab, but any positive result is validated in a CLIA-certified lab. Ask whether the test is performed or validated in a CLIA-certified lab.
Who gets the results?
Research studies are not obligated to return the results of all tests to you. In some cases, they may not be allowed to do so. Ask who gets the results of research genetic testing. Do you get a copy of the results? Does your physician? Is there anyone else the results are shared with?
Are there any specific privacy considerations?
Genetic testing is unique because it can provide information about what may happen in the future (when testing is performed on someone without symptoms); it also provides some information about other relatives and may identify others at risk of developing FTD. However, it is important to confirm who will have access to test results as part of the study records. Will the data have your name or other identifiers attached to it? How is your privacy maintained throughout the research study and once the study ends? Researchers are almost always required to carefully protect the identity of participants and their genetic data, but it does not hurt to ask and confirm.
Sponsored Genetic Testing
Sponsored genetic testing is paid for by a third party– typically a pharmaceutical company, but in some cases a patient advocacy group. When considering sponsored testing, you will want to ask:
Why is the sponsor paying for testing?
A pharmaceutical company might sponsor genetic testing to increase the number of people with a confirmed genetic diagnosis, the number eligible for a clinical trial investigating a potential treatment, and/or the number of people eligible to use this treatment once a drug has FDA approval. In some cases, the sponsor’s primary motivation may be simply to raise awareness or provide a service.
What does the sponsor get in return for paying for testing?
Sponsors need to be clear and transparent about what information they are getting back in exchange for paying for your testing. If the sponsor is receiving any identifying information (such as your name), then they must have your written consent before testing. Usually, your identifying information will not be shared with the sponsor, although there are exceptions. And, the sponsor may be given the name of the physicians who ordered the testing, which allows them to speak with these physicians about their study or potentially approved treatment.
Other sponsors may require that you enroll in their registry or sign up for their mailing list in order to be eligible for free testing. By enrolling in a registry, you are giving the sponsor permission to contact you in the future. You can usually opt out of a registry or mailing list at a later time, but it is important to understand what the obligations are before agreeing.
What genes are included in the test?
Consider whether this is the right test for you. More than 12 genes have been associated with FTD. Of these, three (C9orf72, GRN, MAPT) account for the majority of people living with FTD with an identified genetic variant. If your family history includes other neurodegenerative illnesses, genetic testing that includes additional genes may be recommended. Some sponsors will only pay for genetic testing for the gene or genes that are directly related to the drug they are developing.
Ask whether all three of the common FTD genes will be included in the test. If you choose to have sponsored testing but not all relevant FTD genes are included, you can always choose to pay for additional testing if needed (or have testing billed to your insurance company). If you have a known genetic variant in your family, you’ll need to determine whether this test includes that variant.
Is genetic counseling included with testing?
Many, but not all, sponsored programs include pre-test genetic counseling at no charge. Genetic counselors are healthcare professionals with special training in genetics who can help you make an informed decision about genetic testing. Click here to read more about what to expect from an initial genetic counseling session.
Are there any specific privacy considerations?
Genetic testing is unique because it can provide information about what may happen in the future (when testing is performed on someone without symptoms); it also provides some information about other relatives, and may identify others who are at risk of developing FTD.
The power and potential impact of this unique information makes it important to understand who will have access to your test results, and how they will be used. In some cases, your de-identified data (data without your name or other personal identifiers) may be used by the lab or the pharmaceutical company for research purposes or to develop new products that they will then sell. They may also sell your de-identified data.
How to Choose a Sponsored Testing Program
While sponsored testing programs are often similar, key differences include whether the program:
- Is available to people outside of the United States.
- Is available to people with a family history of FTD but without symptoms.
- Includes pre-test genetic counseling at no cost.
- Includes all three major genes associated with FTD (C9orf72, GRN, MAPT).
For help determining which sponsored/no-cost genetic testing program may be right for you or a family member, choose options from the interactive list below. This information is current as of 8/5/2021.
Find a No-Cost Genetic Testing Option