Genetic Counseling & 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 to all enrolled participants and will be paid for by the DIAN Obs or DIAN-TU study. These services are NOT part of the study protocol but are offered as a courtesy to enrolled participants, and test results will not be provided to the DIAN Obs or DIAN-TU study. If you are enrolled in the DIAN Obs study your results should not be shared with any team members (site coordinators, site investigators, etc.). For DIAN-TU participants, unless knowledge of genetic status is required by study protocol, trial staff involved in all clinical, cognitive, and other assessments in the trial should NOT know your mutation status or that you are seeking genetic counseling and testing. Counseling and post-test support will be provided by appropriate clinical providers outside of the DIAN Obs/DIAN-TU studies. DIAN Obs/DIAN-TU is unable to support genetic counseling and testing for non-DIAN Obs/DIAN-TU participants.
Genetic counseling is a process to inform an individual about a genetic mutation in one’s family. The counselor will discuss the risks, benefits, and limitations of genetic 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 genetic 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.
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, PSEN-1, and PSEN-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.
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 may be documented in an individual’s medical records which could be accessed by insurance companies to determine policy eligibility.
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.
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.
You should contact your site coordinator to request a referral to an approved and qualified genetic counselor. DIAN Obs or DIAN-TU will pay for the standard costs of genetic counseling and genetic testing.