What can Genetic Counseling tell you?

We explore the benefits of this crucial support service. 

Genetic counseling is not a diagnostic tool. It is part of the genetic diagnosis process, and it’s role is to support and guide individuals and families. 

What genetic counseling can tell you?

• Whether the family history of a rare disease or symptoms related to a genetic cause may mean you have a higher risk of developing a rare disease. If this is the case a genetic counselor will advise if you should proceed with genetic testing, and which tests they would recommend. A genetic counselor may be able to tell you which symptoms might be relevant to test for. 
• Whether you should proceed with carrier screening, based on a family history of rare disease, or of family members who are known carriers for gene mutations. A genetic counselor will then be able to educate you about what a positive result might mean for your future health and that of your future children. It will also be able to tell you the options for conceiving a child, based on your specific genetic health. 
• What kind of genetic testing options you should consider based on your family history, and symptoms, if any. These might be recommended to confirm or to rule out a diagnosis. There are several types of genetic testing, and the more targeted the testing, the more accurate the results are likely to be. Genetic testing is a difficult process, both emotionally and sometimes physically, genetic counseling can tell you if there is a need to explore further testing, or not. 
• If further genetic testing and screening is required to rule out or confirm a rare disease diagnosis. If further testing is recommended, a genetic counselor will also be able to recommend which specific genetic testing to undergo. They will also be able to explain the results and implications of the results of the testing. They will be able to tell you what the results mean in layman’s terms, and beyond the medical explanations. 
• In-depth information about the causes and symptoms of rare diseases and genetic syndromes, and what long-term management of these symptoms might entail. Genetic counseling aims to raise awareness about rare diseases, and to empower rare disease individuals with as much information as possible when it comes to understanding, and making decisions about your care.
• How care and treatment of rare diseases might be coordinated and managed between the different healthcare professionals and teams responsible for your care. It will also be able to tell you what this care might entail, and how you can access it. It will tell you the best options for you, based on your symptoms and need for care. 
• What support groups are relevant to your syndrome, or potential risk factors? Support groups are important for rare disease advocacy and awareness, while also providing much-needed emotional and mental support. Learning to accept, and live with a rare disease diagnosis, is a difficult process, and support groups are a crucial part of making this path less rocky and more manageable for everyone involved. 
• What life with a rare disease might look like, and how early intervention might be able to improve quality of life, including potential treatment and care options. This information will vary from patient to patient, even amongst those with the same syndrome. 
• If you have received a misdiagnosis in the past, how advanced genetic analysis tools might be able to help you reach a more accurate diagnosis, and how genetic counseling can help bring about a more accurate diagnosis. 

Genetic counseling empowers rare disease patients along every stage of their rare disease journey- from initial diagnosis, to long term management- and what it can tell you about these stages, and what each entails, is essential in helping rare disease patients both reach, and live with their diagnosis. 

Also, you can try our Child Development Checker app to assess developmental delays and potential genetic concerns at home. The app helps analyze your child’s development and identify early red flags. Plus, the “Connect to Expert” feature offers personalized support from genetic professionals. Together, these resources empower you to support your child’s unique developmental journey proactively.