FAQ

What is Frontotemporal Degeneration (FTD)?

FTD refers to a group of brain disorders caused by degeneration of the frontal and/or temporal lobes of the brain. FTD subtypes include:

Behavioral Variant FTD
Primary Progressive Aphasia:
Nonfluent/Agrammatic Variant
Semantic Variant
Logopenic Variant
Frontotemporal Degeneration with ALS
Corticobasal Syndrome
Progressive Supranuclear Palsy

Is there a treatment for FTD?

Currently, there are no FDA-approved treatments to stop the disease's progression or prevent the onset of FTD. There are medications to help with some behavioral and cognitive symptoms, as well as various therapies (occupational therapy, physical therapy, speech therapy, behavioral therapy) that can aid in symptom management. There are a number of ongoing trials examining potential treatments for FTD. You can find a list on our clinical trials directory page.

Is FTD genetic?

There are more than 10 genes that, when mutated, can cause FTD, though the three most common are GRN, C9orf72, and MAPT. Approximately, 15-20% of patients with FTD have an identifiable genetic cause. While many of these individuals have a family history, genetic variants have also been identified in some individuals without a family history.

What is genetic testing?

Genetic testing is the process of reading through the instructions that are spelled out in your DNA. Your DNA uses four letters, A,T,C,G to create a meaningful code that provides the instructions for everything in your body. When genetic testing is performed, the laboratory will read through all of the letters in your genetic code to look for a change that could have a meaningful impact on your body’s instructions.

In some cases testing is limited to analyzing the letters that make up the instructions for a single gene; for example, the progranulin (GRN) gene is made up of thousands of letters and is divided into 13 sections called exons.

In other cases genetic testing will involve reading through all of the letters in all of the exons across all genes. This is called whole exome sequencing. Reading through all 3 billion letters in an individual’s genome is called whole genome sequencing.

Because every individual has so much unique genetic information, including thousands of changes (most of which are harmless), interpreting all of that data can be challenging. That’s why when whole exome or whole genome sequencing are completed, the lab will typically only review the data for select genes that relate to why the testing was ordered.

Can genetic test results be used against me?

There are federal laws (GINA and HIPAA) that prevent genetic information from being used against you in relation to health insurance and employment. There is no federal protection against genetic discrimination when it comes to life insurance and long term care insurance. There are also some important limitations to the protections that GINA provides (see FAQ "What is the Genetic Information Non-Discrimination Act" below).

Individuals considering genetic testing should evaluate their life insurance and long term care insurance options prior to testing. Understanding the questions on the application is an important part of planning. In all cases, insurance applications should be completed truthfully. Failure to answer all questions honestly, including failure to disclose a medical condition, genetic testing, or family history could lead to the denial of a life insurance claim.

What is the Genetic Information Non-Discrimination Act (GINA)?

GINA is a federal law that has two parts: one that relates to health insurance and one that relates to employment.

Part 1 makes it illegal for group health plans to discriminate against someone based on genetic information. In addition, group health plans cannot request or require an individual to undergo genetic testing or collect genetic information (including family medical history).

Part 2 makes it illegal for employers with more than 15 employees to discriminate against employees or applicants based on genetic information. In addition, employers are not permitted to use genetic information in making employment decisions, or request, require or purchase genetic information on employees or potential employees.

There are some important limitations to GINA. GINA DOES NOT provide protection from discrimination by:

life insurance providers
long-term care insurance providers
disability insurance providers
health insurance provided through the Federal Employees Health Benefits Plans, the Indian Health Service or Tricare (military health system)
employers with fewer than 15 employees
the United States military

Some states also provide additional protection from genetic discrimination.

Can my health insurance company ask for a copy of my genetic test results?

A health insurer can ask for genetic information if they need that information to determine whether they will pay for a specific service, treatment or procedure (for example, coverage for a treatment that is gene specific). They cannot use that information to set your rates or deny you insurance.

Where can I learn more about genetic privacy protections?

The Department of Labor provides detailed information about protection offered by GINA: https://www.dol.gov/sites/dolgov/files/ebsa/about-ebsa/our-activities/resource-center/faqs/gina.pdf
The non-profit Genetic Alliance in collaboration with the Genetics and Public Policy Center at the Johns Hopkins University, and the National Coalition for Health Professional Education in Genetics, created this easy to use website that provide information about GINA: https://ginahelp.org/healthinsurance

What is genetic counseling?

Genetic counselors are specially trained healthcare providers whose job is to help you understand your genetic risks, the implications of genetic testing and support your independent decision making. When you meet with a genetic counselor for pre-test counseling, they will ask you about your personal history of FTD (symptoms and/or diagnosis), your family history of FTD, and any genetic testing you or family members have had related to FTD. They will talk with you about the possible results, help you think through what each result would mean for you and your family, discuss the risks, benefits, and limitations of testing, and answer any questions you have. There is no obligation to proceed with genetic testing after talking to a genetic counselor. After testing is complete you’ll meet with a genetic counselor to receive your results. The genetic counselor will explain the results to you and help you understand what the results mean for you and family members. Regardless of what result you might have been expecting, adapting to your genetic results can be a process, and genetic counselors are there to support you.

Why do I need to have genetic testing to be eligible for some clinical trials?

Researchers identified over 10 genes that can cause FTD when altered. This information enabled the creation of experimental treatments meant to help people with certain genetic differences. For example, experimental treatments might attempt to replace damaged genes or boost protein levels that are too low because of genetic changes.

For clinical trials where the experimental treatments are linked to specific genes, genetic testing is often needed to see if someone can participate. This is required because the experimental treatment is only expected to be effective in people with a change in the gene that the experimental treatment targets.

Does everyone with a variant in the same gene develop the same symptoms?

While there are trends in how the disease presents based on the gene involved, there is also a lot of variability in symptoms and age of onset. These differences can be seen across different families and within the same family (two people with the same genetic variant can develop different symptoms).

How can I participate in the genetic counseling and testing program?

The Bluefield Project to Cure FTD has partnered with Probably Genetic to improve access to genetic testing for FTD. Eligibility for the free genetic counseling and testing program is determined based on self-reported responses to the Probably Genetic symptom checker. Individuals with a clinical diagnosis of FTD and/or a biological family member with a progranulin genetic variant will be eligible. In addition, individuals need to live in the United States and be age 18 or older.

Individuals will be informed of their eligibility by Probably Genetic. Please note that Probably Genetic is singularly responsible for determining final eligibility for the program based on self-reported information. [Check eligibility]

I’ve completed the symptom checker, what happens next?

You’ll be notified if you are eligible within one week of completing the symptom checker. If eligible, you’ll be prompted to schedule a genetic counseling appointment via Probably Genetic’s online platform.

Why do I need to meet with a genetic counselor before testing?

Whether you are a person diagnosed with FTD or the biological family member of a person with a progranulin (GRN) genetic variant, genetic counseling can be a helpful source of information to better understand your personal disease risks, talk through potential outcomes of testing, and the risks, benefits and limitations of testing. There is no requirement to proceed with genetic testing after speaking with a genetic counselor.

Is the Genetic Counseling and Testing Program free?

Yes. The Genetic Counseling and Testing Program is free of charge. Simply complete the Symptom checker and, based on your responses, you could qualify for genetic counseling and testing at no cost to you.

Will I need to provide a blood sample?

No. Samples are collected at home using an easy to use a saliva collection kit. All materials, including a prepaid shipping label, are provided to you so that you can ship it back to the lab yourself.

How long does it take before I will receive results from my genetic testing?

You can track the status of your sample and results in the Probably Genetic portal.

Will I receive a report back with the results of my testing?

Yes. You’ll be notified when your results are available and prompted to schedule an appointment with a genetic counselor to discuss your results via telehealth.

Will I meet with the genetic counselor again when I receive my results?

Yes. A genetic counselor will review your results with you and answer any questions that you may have.

What genes are included in testing?

Testing is different for individuals with a clinical diagnosis of FTD and those with a biological family member with a known progranulin genetic variant.

For biological family members, genetic testing will focus only on the progranulin (GRN) gene to identify any disease causing variants in that gene.*

For individuals with a clinical diagnosis of FTD, Probably Genetic’s lab partner will perform whole exome sequencing.* Participants with a clinical diagnosis of FTD will receive a report that provides their results for the following genes: C9orf72, CHMP2B, CTSF, FUS, GRN, MAPT, SQSTM1, TARDBP, TBK1, TIA1, TMEM106B, UBQLN1, VCP, CHCHD10, OPTN, HNRNPA2B1, UBQLN2, and CSFR1. [Click here to learn more about genetic testing.]

*Participants from NY state will have whole genome sequencing performed; however, biological relatives of individuals with GRN variants will only receive results related to GRN and individuals with a clinical diagnosis of FTD will receive results related to the genes listed above.

How will my genetic data be used?

Bluefield does not receive any identifiable genetic information back from your genetic testing, so you will never be identified by name or any other identifier that can be linked back to you. We do receive aggregate data, which means combined data on all the participants without any names. This allows us to better understand how common genetic changes are in the various FTD genes and what symptoms, reported in the symptom checker, are more often seen with changes in certain genes compared to others. This information may be presented at scientific meetings but you will never be identified.

Please click here to review the privacy policy for Probably Genetic to understand how they use participant data.

Will the results of my genetic testing be included in my medical record?

Your medical record is a set of documents, information, test results, exam notes and summaries maintained by your healthcare providers. It is likely that you have more than one medical record because a record is generated by each healthcare provider you see (unless every healthcare provider you see is part of a single health system). It is also likely that not all information about you in one record is in every medical record that your healthcare providers’ maintain. The genetic counselors and ordering providers that you work with as part of the Probably Genetic testing program will keep a copy of your test results and a summary of your genetic counseling session, as is required by law. This constitutes a medical record, whether or not it is shared with any other healthcare providers you may see. Participants are encouraged to share their genetic results with their regular healthcare providers (primary care, neurologist), so that they can make recommendations with the knowledge gained from your genetic testing. If you are considering how to keep your genetic information out of your medical record due to concerns related to genetic discrimination, see FAQs "Can genetic test results be used against me?" And "What is the Genetic Information Non-Discrimination Act (GINA)?" in the first tab.

Why is Bluefield promoting these research studies?

Bluefield’s mission is to accelerate the development of treatments for FTD caused by progranulin gene (GRN) variants. In order to help improve access and reduce barriers to clinical trial participation, Bluefield created the Progranulin Information Navigator to help individuals with GRN variants easily find and learn about clinical trials for individuals with GRN variants.

Is Bluefield offering any other resources to help identify clinical trials?

If you need additional assistance, please contact navigator@bluefieldproject.org and an information support specialist will reply.

How does someone choose which clinical trial to participate in?

Deciding whether to participate in a clinical trial and which clinical trial to participate in is a personal decision. Some key considerations include:

What is the purpose of the study?
How long will I be in the study?
What will I need to do as a participant—medical procedures, travel, testing?
What are the risks and benefits or participation?
How will participating impact other parts of my life or my family?

Click here to learn more about clinical trial participation.

Does everyone who wants to participate in a clinical trial get into a trial?

Clinical trial participation is determined by the eligibility criteria for the specific study, which are determined by the study sponsor. Typically, participants will need to go to a study site in person for a screening visit to determine eligibility. The Bluefield Project is not a study sponsor and does not influence who is selected for any clinical trial.

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