Maybe your physician has ordered genetic testing for you, or perhaps you’ve been wondering if it might be helpful to have your child undergo a genetic test. Perhaps you are a physician who has never used genetic testing as a diagnostic tool before. If you are considering a genetic test for any reason, but aren’t sure if it’s something you want to pursue, this article is for you.
Below are five things a genetic test can do to improve the quality of life for patients and their families.1. Make or confirm a diagnosis
In some cases, a doctor can diagnose a condition without a genetic test. However, for children who have features associated with intellectual disability, seizures, or autism spectrum disorder, a genetic test can determine the underlying cause for why a person has the symptoms they do. A genetic test can also be helpful for patients who have features that aren’t known to be associated with a particular syndrome. For these people, a genetic diagnosis can provide the patient, family, and treating doctors with information about treatments, triggers, associated problems, inheritance patterns and, where to go for support and information.2. Guide treatment
Genetic tests are being used to figure out the best treatment for patients. Some tests, like Courtagen’s rxSEEK for anti-epileptic drugs, look for variations in the genes that metabolize (break down) medications. Results from the rxSEEK test tell clinicians which drugs might need additional monitoring or an altered dosing schedule for a particular individual. Other genetic tests may identify conditions that are treatable with diet, enzyme replacement, or specific types of medications. For example, one genetic cause of seizures is due to a defect in the ALDH7A1 gene. This gene causes a type of epilepsy that doesn’t respond to the usual medications, but a simple vitamin B supplement can cure seizures for these patients. Genetic testing in these patients is a good way to identify which treatments will—and which won’t—work.
3. Identify associated problems and triggers
Some genetic conditions have multiple symptoms associated with them. These symptoms may present at different stages of development or, in some cases, may not present at all. Identifying the genetic cause of a patient’s condition can help prevent, monitor, and manage the possible problems the patient may have. In addition, some genetic disorders are made worse when the patient has an illness or is exposed to something that aggravates their condition. These triggers can be avoided. For example, precautions may be taken before a patient with a mitochondrial disorder undergoes surgery. Patients with ion channel disorders may have episodes of muscle stiffness when exposed to cold. Having a genetic diagnosis can reveal information about triggers and other possible problems that are important to the person’s health and well-being.
4. Understand inheritance patterns
When a person or family member has a genetic disorder, a common question is, “what are the chances of this happening again?” When a genetic test is positive, a genetic counselor can calculate the chances the condition will occur in other family members. Once the gene is found through a genetic test, the inheritance pattern in that family is known, and testing can be performed on other family members.
5. Help a family obtain services and connect with others
Raising a child with a disability or living with a chronic disease is very challenging. It can be isolating and difficult to find resources and relevant information. A diagnosis often gives a person a place to go for support and information.
There are many truly incredible online communities! Mitoaction is a non-profit organization whose motto is “Support, Educate and Advocate” for mitochondrial disorders. They have online resources, an active facebook page, summer camps for children, live support groups, etc. Without a diagnosis of a mitochondrial disorder, you might not realize that this organization and its members could be a warm and welcoming place for you.
Talk About Curing Autism (TACA) is another great resource for families raising a child with autism spectrum disorder. TACA helps to strengthen the autism community by connecting families and the professionals who can help them, allowing them to share stories and information to help improve the quality of life for people with autism.
As you can see there are several benefits to genetic testing. For more information about genetic testing through Courtagen, be sure to check out the Physician and Patient sections of our website.
Coming Up Next…
4 Myths About Genetic Testing
- It doesn’t make a difference in treatment
- It isn’t covered by insurance (or it’s too expensive)
- It’s difficult to order
- Genetic diseases are rare.