The Importance of Genetic Testing in Neurodegenerative Diseases for Families

Genetic testing is increasingly becoming a pivotal part of diagnosing and managing neurodegenerative diseases like amyotrophic lateral sclerosis (ALS), Parkinson’s disease, and dementia. You might be wondering, "Aren't neurodegenerative diseases mostly not genetic?" Well, that's partly true. 

A significant minority of cases do have a genetic basis. Genetic testing can identify mutations that underlie these diseases in approximately:

• 5-13% of individuals with early-onset Alzheimer’s disease (diagnosed before age 65)
• 15% of individuals with Parkinson’s disease
• 18% of individuals with frontotemporal dementia
• 21% of individuals with amyotrophic lateral sclerosis (ALS)
• All individuals with Huntington’s disease

Several characteristics can help pinpoint individuals more likely to have a genetic form of neurodegenerative disease. For instance, if someone develops a disease earlier than usual or if multiple family members have the same condition, there's a higher likelihood of a genetic cause, as often seen in Alzheimer’s disease and Parkinson’s disease. Some genes predispose individuals to various neurodegenerative diseases. For example, certain genes linked to ALS can also increase the risk of frontotemporal dementia. As a result, some families may have a mixed family history, with some family members developing ALS, some developing FTD, and some developing both.

Why is it important to receive genetic testing?

Genetic testing can profoundly impact medical care by identifying genetic forms of neurodegenerative diseases, opening doors to clinical trials and research opportunities, and offering crucial risk information to family members. For example, individuals with ALS and specific genetic mutations, like SOD-1, are prescribed targeted medications designed for their genetic subtype. Consequently, genetic testing is recommended for all those living with ALS.

There are exciting developments on the horizon with several trials exploring gene-specific medications for diseases like ALS (C9orf72, FUS, and ATXN2 genes), frontotemporal dementia (GRN and C9orf72 genes), Parkinson’s disease (GBA and LRRK2 genes), early-onset Alzheimer’s disease (APP, PSEN1, and PSEN2 genes), late-onset Alzheimer’s disease (APOE gene), and Huntington’s disease (HTT gene). Genetic testing can offer insights into eligibility for participation in clinical trials, enabling access to disease-modifying therapies, which could reduce or even halt symptom and disease progression.

Genetic testing is valuable to individuals because it can unlock diagnostic and prognostic clarity for neurodegenerative diseases. At the earliest stages, genetic testing and counseling enables care teams to develop precise care plans and interventions and helps inform lifestyle changes that has the potential to slow disease progression.

How does genetic testing impact my family?

Genetic testing isn’t just for patients; it's also available to family members. While it's most informative for those with a known genetic mutation in the family, it's still valuable for individuals with a family history of neurodegenerative disease, especially if other family members haven't undergone testing. This testing empowers family members to learn about their own risk, engage in research, and explore family planning options like in vitro fertilization with preimplantation genetic testing (IVF with PGT).

Selecting the appropriate genetic test depending on the specific neurodegenerative diseases in an individual's personal or family history is also important. Genetic counselors and specialized healthcare professionals play a crucial role here. They provide guidance before testing, helping individuals understand their family and personal history, the testing process, and how results may impact them. This counseling is particularly beneficial for healthy family members, aiding them in deciding if genetic testing aligns with their needs and goals.

How do I or my loved ones receive genetic testing and counseling?

We believe everyone with neurodegenerative conditions should have access to genetic testing, regardless of family history or insurance coverage. When signing up with Synapticure, your care team will address your concerns, as well as those of your loved ones. If genetic testing is the right step for you and your family, our experts will connect you with Synapticure’s genetic counselor who will support you through the process and ensure all your needs are met, every step of the way.

Synapticure’s Care Navigators work with specialty labs to quickly ship you at-home genetic testing—at no cost. If someone in your family is a carrier of a genetic mutation, other family members may also qualify for genetic counseling and free genetic testing. If you're interested in learning more, give us a call at (855) 255-5917.