What is genetic diagnosis?
Genetic diagnosis is the process by which the genetic makeup of an individual is examined, to identify or isolate gene or chromosomal changes that might place them at higher risk for developing a rare disease, or confirm a rare disease diagnosis.
What is the process?
Genetic diagnosis will generally involve the following steps:
- Genetic counseling
- Genetic testing and screening
- A confirmed diagnosis
Understanding the support and treatment options for a rare disease patient for the management of their condition, and to ensure both early intervention and quality of life
How do I know which genetic test to choose?
This is one of several genetic diagnosis questions that only a genetic counselor can answer accurately.
The genetic testing you choose, for yourself or a family member, will depend on the following:
- The recommendations are given to you by your doctor
- The recommendations are given to you by your genetic counselor
- A family history of a rare disease may determine which genetic test to opt for
- Specific symptoms in yourself, or your child, will identify specific genetic testing options
How do I know if genetic testing is necessary?
Genetic testing is usually recommended in the following situations:
- Before, or during pregnancy for all parents-to-be. Genetic screening and testing is increasingly popular during pregnancy, in part due to increased awareness, and the development of more accurate, non-invasive testing options.
- If there is a family history of rare disease, and if parents are known to be carriers of specific gene mutations.
- If an individual shows symptoms of a rare disease or symptoms that have no confirmed cause. This might include more general symptoms, such as developmental delay, or it might involve more specific symptoms, including unique facial features.
What might a genetic diagnosis tell me?
Depending on the type of testing involved, it might be able to tell you any of the following:
- If you or your child is the carrier of a specific gene change, it might put future children at risk for developing a rare disease.
- If there is an increased risk of developing a rare disease.
- If there is a confirmed gene change, which is causing a rare disease or syndrome.
This is one of many genetic diagnosis questions that only a trained genetic counselor can answer with any degree of accuracy.
Who can help me navigate the genetic diagnosis process?
Genetic counselors are trained genetic experts, who provide crucial and invaluable services for people navigating the genetic diagnosis process. Their role, amongst many other roles, is to walk patients and their families through the genetic testing process, including recommendations for which tests to choose. Genetic counselors accompany patients from the start of the process, all the way through to a confirmed diagnosis, and past this, as they help patients navigate a complex, and often difficult process.
How do I start the process?
You should start the process with a meeting with a genetic counselor. This will help you better understand, if you need to move forward with genetic testing, and what this process might involve. If you are unable to connect with a genetic counselor in your area, there are now options to access genetic counseling virtually. Online genetic counseling connects you with a network of experts, who can help you start the process of genetic diagnosis and testing.
How long will the process take?
This can be very difficult to determine and may depend on the gene mutation or rare genetic syndrome being diagnosed. It is also very dependent on how accessible genetic counseling and testing services are.
However, speeding up the genetic diagnosis process is important to improve care outcomes for rare disease patients both in the short and long term. Speeding up the process means ensuring people have faster, more direct access to genetic counseling and counselors. It also means improving the accuracy of the entire process, to prevent time spent wasted on misdiagnosis.
How accurate is the process?
This depends on several factors, but the accuracy of a diagnosis can be dramatically improved if rare disease patients gain fast access to genetic experts, including genetic counselors, who can help them understand which genetic options are the right ones for them. All of this contributes to improving the accuracy of a genetic diagnosis.
Greater awareness about the causes and symptoms of rare diseases also improves the accuracy of a genetic diagnosis. Advancements in screening and genetic technologies, utilizing AI and facial screening, are also contributing to a bigger push toward more accurate screening tests and processes.
What rare diseases can it identify?
There are currently over 7,000 identified rare diseases worldwide. Some of these are easier to identify, as much more is known about their causes and symptoms. Syndromes, with just a handful of affected individuals, are much harder to identify.
Some of the most commonly diagnosed rare diseases include:
- Noonan syndrome
- Angelman syndrome
- Coffin-Siris syndrome
- Kabuki syndrome
- Turner syndrome
- Fragile x syndrome
Try our Child Development Checker app to assess developmental delays and potential genetic concerns from the comfort of your home. This user-friendly tool analyzes your child’s development and flags early signs of concern. Additionally, the “Connect to Expert” feature provides personalized support from genetic professionals. These resources empower you to take proactive steps in your child’s unique developmental journey.
