Genetic Counseling and ASDs
Katie Voss, ScM, CGC
Date First Published: September 21, 2010
In recent years, it has become ever more evident that genetic factors play a role in autism spectrum disorders (ASDs), although environmental factors may also be involved. What information or support can genetic counselors offer families with a child on the autism spectrum?
What is Genetic Counseling?
The profession of genetic counseling developed in tandem with the larger field of genetics, which aims to understand how inherited factors contribute to a person's development. Genetic counseling answered the clear need for someone who could explain complex genetic conditions in terms a regular person could understand, and who also could help people cope with whatever the implications of a genetic condition in the family might be.
Genetic counseling can be provided by any professional who offers genetic testing to a family, diagnoses a child with a condition that has a genetic component, or thinks a child may be at risk for a genetic condition. There are, however, actual genetic counselors who are specially trained not only as communicators who can help translate complicated scientific information for families, but also as counselors who can help families cope with their emotional response to that information, and integrate it into their lives, decision-making, and way of thinking. When a genetic counselor works with a family, their main goal is to help the family understand the genetic situation so they can make informed decisions and cope better with whatever set of circumstances they face.
Families seek out genetic counseling for a variety of reasons. They might need someone to explain the results of genetic testing, the diagnosis of a genetic or inherited condition, or the chance of having a child with a genetic condition already known to run in the family. If you knew, for example, that a genetic disorder was in your family tree, and you wanted to find out if you had inherited it, or if you were at risk of passing it on, you might undergo a genetics evaluation, including genetic counseling. This evaluation might consist of a physical examination, family history, education about the genetic condition and its inheritance, and a discussion of genetic testing.
Genetic Counselors and the Autism Spectrum
Genetic counseling is a commonly-offered service within the Genetics Department of any medical institution, and is often immediately provided to families of children with genetic conditions such as cystic fibrosis or sickle cell anemia. It can also be helpful to families with other conditions that are now known to have a strong genetic component, such as ASDs.
There are a number of reasons these evaluations may be helpful to families of children with ASD, and several professional societies, including the American College of Medical Genetics, have come forward to recommend genetic testing for all children on the autism spectrum. Therefore, your child's doctor may recommend (or at least offer) genetic testing during a future office visit regardless of your child's specific ASD diagnosis, age, functioning level, or your family history. Many parents are surprised that their child is recommended for genetic testing even though autism doesn't "run in the family," or they aren't planning to have more children in the future. As a parent, you should know that this testing is not required, and that you have the right to be involved in the discussion about whether or not it is worth pursuing genetic testing for your child.
What are the Pros and Cons of Genetic Testing?
There are several potential benefits to having genetic testing done. First, it has long been known that a subset of children with ASD have genetic conditions like fragile X syndrome or tuberous sclerosis. Still others have extra genes or missing genetic material, known as copy number variations, which may play a role in their ASD. Recent studies have indicated that as many as 7 to 18% of children with ASD will have positive genetic test results. 1
The importance of detecting a known syndrome or having a positive genetic test result is that these findings may put a child at risk for other health concerns beyond ASD. For example, we may become aware through genetic testing that a child is at an increased risk for a seizure disorder, and would want to start regularly monitoring the child for those problems.
Recurrence risk is another area of concern for many parents. What are the chances they will have another child with ASD? That risk can vary depending on the genetic picture. If we know that a family has one child with ASD, for example, we would approximate the overall risk of their having another child with ASD to be 4 to 7%. However, that risk is not tailored to a specific family's characteristics, but applies to any family who has one child with ASD. During a genetic counseling evaluation, additional information would be gathered that would allow this risk to be tailored to a specific family. Some genetic conditions that have been detected in children with ASD bear a much lower (down to less than 1%) or higher (up to 50%) risk of occurring again in a later-born sibling. As more higher functioning individuals with ASD grow up and consider having children, they may also find themselves interested in genetic counseling regarding their own risk of having a child on the spectrum.
In addition, some genetic conditions associated with ASD can be tested for prenatally. This would give a family the option of finding out whether a child had inherited a genetic syndrome like fragile X, or whether a child had the same mutation or copy number variation as a sibling with ASD. While prenatal testing would not provide a yes-or-no answer as to whether the child would have an ASD, it would give more information on the chances that the child would develop an ASD. Finally, many families benefit from having information about why their child may have developed an ASD, and by connecting with other families whose children have the same genetic diagnosis as their child.
On the other hand, there are several potential downsides to pursuing genetic testing. First, and foremost in many parents' minds, is the cost of such tests. While insurance coverage for testing is improving, not all families have the necessary coverage and some will need to pay out-of-pocket for any testing. This can be quite expensive, and the costs may go beyond what a family pays for the initial test, as some tests require follow-up before they can be fully interpreted. In addition, it is important for all families to understand that some tests are not yes-or-no tests and might even come back with information that is difficult to interpret. For example, a test may indicate that a genetic "variant" was found that may have caused their child's ASD, or may have had nothing to do with it. Some families also struggle with the possibility of learning that a genetic condition (or susceptibility gene) was passed down through one side of the family. Some families feel a sense of guilt or blame once the genetic variant is found in one half of the family and would rather not know. Finally, treatment recommendations for a child with ASD rarely change based on genetic test results, so the impact of these on a child's day-to-day life may be limited.
What to Expect at Your Genetic Counseling Visit
If you choose to see a genetic counselor for ASD-related concerns, you can expect your session to take 1 to 2 hours. During the session, several topics will be covered including:
If you are thinking about pursuing genetic testing, you should first seek input from your child's physician about possible benefits, limitations, and alternatives to the testing. If you'd like to seek out a genetic counselor to have an in-depth discussion about whether or not genetic testing is right for you, you can use the "Find a Counselor" features on the National Society of Genetic Counselors website.
We are learning more about the genetics of ASD every day. Genetic counselors are often on the cutting-edge of this new knowledge, here to help inform and guide families affected by ASD.
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