Genetic Testing

The decision to have genetic testing for ALSP is personal, and there are many reasons for or against testing that should be considered. The following information is available to help guide you through your decision.

Availability for Future Treatments

Scientists are interested in learning more about ALSP. They are conducting research to understand ALSP and develop treatments that target the CSF1R mutations, which could lead to the first effective disease-modifying treatment. Knowing if you are a carrier of the CSF1R mutation would enable you to participate in research which could lead to a treatment or a cure.

Eligibility to Participate in Clinical Trials

New therapies for ALSP cannot be developed without clinical trials, and those trials will not succeed unless there are enough people eligible and willing to participate. People with the CSF1R mutation are eligible for our first and only clinical trial available through Vigil Neuroscience for those diagnosed with ALSP.

Anyone concerned that they may have inherited the CSF1R gene should consider talking with a genetic counselor about their risk. A counselor can discuss with you the benefits and limitations of genetic testing. Making the decision to pursue genetic testing for ALSP can be a difficult and very personal decision, however learning your genetic status can ultimately help you take charge of your diagnosis and make a difference that could potentially benefit yourself, family members, and future generations.

Genetic tests can reveal information not only about those being tested but also about their relatives. Family members may have different opinions about whether or not they want to learn about a genetic variant in the family. Health discussions may get complicated when there are divergent opinions about genetic testing. 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.

For some, the decision to proceed with genetic testing is made so they can plan for a family or know if their offspring may be affected by ALSP. ALSP is often diagnosed after the childbearing years, so most individuals have already had children by the time they are aware they have the disease. Currently, there is no newborn genetic testing for the CSF1R gene mutation.

If you need guidance in having discussions with family members, please download this letter written by a genetic counselor. You can use it to initiate conversation or simply give it to at risk family members to read at a time of their choosing.

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 do offer financial assistance to help with these costs. For some, sponsored testing programs are a good choice when they are available.

A law in the United States, called the Genetic Information Nondiscrimination Act of 2008 (GINA), helps protect people who have genetic mutations (and/or a family history of genetic disease) that may affect their health. GINA prevents employers and health insurance companies from using genetics 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.

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.

If your test is positive for the CSF1R mutation, you may choose to be monitored by a neurologist. Click here to print a monitoring protocol letter for your doctor. If at any point you show signs of the disease, early treatment options can be discussed with your care team.

Anyone interested in better understanding their risk for ALSP and the benefits and limits of genetic testing can meet with a genetic counselor. You can meet with a counselor individually or with a family member or friend. Genetic testing is never a required part of genetic counseling. When and where you decide to get a genetic test is a personal decision; that decision can involve the assistance of a genetic counselor who will give you insight on the genetic process, from start to finish.

A) During the initial genetic counseling consultation, the genetic counselor will try to understand the individual’s motivations and needs for the visit. Once the genetic counselor understands an individual’s goals for the consultation, they will collect information about personal and family history of ALSP and related conditions. Talking to family members about their health history in advance will help to gain as much information as possible.

B) After discussing family history, the genetic counselor will identify your risk for inheriting the genetic mutation.

C) The genetic counselor will discuss the risks and benefits of testing and identify specific tests that can ensure the most accurate results possible.

D) Privacy considerations will also be discussed.

Download the “What to Expect” guide for genetic counseling.

Download the “How to Prepare” guide for genetic counseling.

The activities involved with a research study 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.

When genetic testing is included as part of a research study or if you are taking part in sponsored genetic testing, there are some important questions to ask. Please download this PDF for questions to ask and important information to keep in mind when considering either options.

Download the “Questions to Ask” guide.

If you currently see a Neurologist or your family consults with a neurologist due to a family history of ALSP, seek guidance on genetic testing from them. Your Neurologist can answer questions and refer you to a Genetic Counselor. If you need help finding a Neurologist, contact us for a list of Neurologists in your area who treat ALSP patients.