Genetic Testing

Sissy’s pediatrician suggested having genetic testing done. My first question was why? The answer…genetic testing can possibly identify the cause of my daughter’s ASD. After a lengthy conversation with her pediatrician, I started to research genetic testing. I found the following information on the Autism Consortium website that best explains the benefits and approach to genetic testing for children with ASD.

Identifying the cause for a child’s autism can be useful for many different reasons.

  • If a genetic cause for a child’s ASD is identified, it might lead to changes in their medical management. 
  • There might be recommendations for evaluation, testing or treatment that are specific to the genetic diagnosis, which would only be known about if genetic testing is done.
  • Because genetic conditions are often inherited, the diagnosis might have implications for other family members.
  • Having a genetic diagnosis might give more information about what to expect in terms of the child’s medical and developmental future. 
  • A special genetic diagnosis might lead to opportunities to participate in clinical trials for new treatments, or other types of research.
  • If you or other family members are planning a pregnancy, knowing the genetic diagnosis will make it possible to provide specific information about the likelihood that future children could have the same genetic condition.

If a family decides to have genetic testing done, the testing that would be recommended should be tailored individually for each child, but the guidelines include a tiered approach to determining the most appropriate genetic tests. A three generation family history and physical exam of the child may lead to suspicion of a particular syndrome, in which case targeted testing for the syndrome specific genes would be indicated. In the absence of a suspicion regarding a specific diagnosis the place to begin would likely be a chromosome micro-array. The micro-array may identify a genetic cause in 15-20% of individuals with an ASD. In the addition to the micro-array, fragile X testing is routinely offered for males with ASD, as well as for females if there is a suggestive medical or family history.  If the results of the micro-array and fragile X are normal, there are several other genetic tests that could be considered, depending on your child’s medical, developmental, and family history. 

Even though there is no guarantee for answers, we decided to have genetic testing done. I instinctively want to know as much as I can about my daughter. Even if the findings don’t provide answers, I will be happy to rule out potentially serious genetic disorders. If a genetic mutation is present, I will be relieved to have some understanding of the origin of my daughter’s ASD.

Regardless of the outcome, to my family, the results are valuable. If you are considering genetic testing, consult your child’s pediatrician.

XO,

Stacey

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