Clinical genetic counseling and testing for enrolled participants

Children of families that have been affected by Dominantly Inherited Alzheimer’s Disease (DIAD) carry a 50% risk of developing the disease. Individuals may seek genetic counseling and testing to better understand their risk of the disease. Genetic counseling and testing is offered as a benefit to all enrolled participants and will be paid for by the DIAN or DIAN-TU study. However, this is a referral service only and NOT part of the study protocol; therefore, your results should not be shared with any DIAN/DIAN-TU team members (site coordinators, site clinicians, etc.). Counseling and post-test support will be provided by appropriate clinical providers outside of the DIAN/DIAN-TU studies. DIAN/DIAN-TU is unable to pay for genetic counseling and testing for non-DIAN/DIAN-TU participants.

What is genetic counseling?

Genetic counseling is a process to inform an individual about a genetic mutation in your family. The counselor will discuss the risks, benefits, and limitations of testing. A genetic counselor will also explain how the mutation is passed down through generations in your family and your level of risk for developing the disease. The counselor will also discuss the possible consequences of testing. If you decide to be tested, the genetic counselor will coordinate the testing procedure, interpret test results, and review treatment or research options that may be available.

What is genetic testing?

Genetic testing is the process of looking for changes (mutations) in a person’s genes that are associated with a genetic disorder. For DIAD, there are three known gene mutations (APP, PS-1, and PS-2) that cause the disease. Most genetic testing is done using a small blood sample. Genetic testing is optional. A person who receives counseling is not obligated to be tested.

What are possible risks are associated with genetic counseling?

There is a chance that genetic counseling and/or testing could cause psychological distress, economic hardship, and social harm. Another risk associated with genetic counseling is the possibility to become ineligible for life, disability, or long-term care insurance. Since genetic counseling is documented in an individual’s medical records which could be accessed by insurance companies to determine policy eligibility.

What is the GINA Law? (For U.S. participants only)

A federal law called the Genetic Information Nondiscrimination Act (GINA), generally makes it illegal for health insurance companies, group health plans, and most employers to discriminate against you based on your genetic information. Employers with 15 or more employees must comply with this law as of November 21, 2009. Health insurance companies and health plans must follow the law by May 21, 2010. The federal law does NOT protect against genetic discrimination by companies that sell life, disability, or long-term care insurance or by adoption agencies.

What are potential benefits of testing?

Learning more about your individual risk will allow you to make educated decisions regarding family and financial planning for the future. The genetic counselor will discuss additional benefits of testing.

Who can I contact for genetic counseling?

You should contact your site coordinator to request a referral to an approved and qualified genetic counselor. DIAN or DIAN-TU will pay for the standard costs of genetic counseling and genetic testing.