Genetic Counseling and ASDs

Katie Voss, ScM, CGC
Research Coordinator and Genetic Counselor
Kennedy Krieger Institute

Email: vossk@kennedykrieger.org

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:

• Setting Goals: Most counseling sessions begin with a discussion about what you hope to learn or accomplish during your time with the counselor. Think about your questions and concerns ahead of time and these can be used to guide the session.
   
• Family History: A detailed family history will be taken in order to gather information about the diagnoses that other people in your family have, as well as the age of onset. Before the session, you should gather as much information as possible on any health concerns, diagnoses, or pregnancy losses for your family members including your children, siblings, nieces and nephews, cousins, parents, aunts and uncles. Your spouse should also gather this information about his or her family members. This information will be used for risk assessment (see below), and to make sure that there aren't any red flags for particular genetic conditions that may run in your family.
   
• Risk Assessment: Based on your family history, the counselor can discuss the risk of an ASD for various family members or future pregnancies. Some individuals prefer not to know their risk, in which case no specific figures need be provided by the genetic counselor. As mentioned earlier, a family who has one child with ASD has a 4 to 7% risk of having another child with ASD. However, this risk number may be adjusted depending on factors such as the gender of the already-affected child, or whether or not genetic testing has revealed the presence of a particular syndrome. Analyzing those factors helps the counselor provide you a risk number that is more accurate for your specific family.
   
• Decision-Making: If you come to the session with questions about whether or not genetic testing is right for you or your child, the counselor will spend time explaining the tests and possible results, and helping you explore your thoughts, feelings, and concerns about these tests. As we have reviewed in the paragraphs above, there are many good reasons to pursue genetic testing (such as knowledge of other conditions your child may be at risk for, or the ability to more accurately estimate recurrence risk) and also many reasons that parents may be cautious (such as cost and lack of clarity about how the information will change their child's recommended therapies). The goal of this discussion is for you to make a fully-informed decision about whether or not to pursue testing.
   
• Education and Information-Giving: If you have questions about your child's diagnosis or genetic testing results, the counselor will review that information with you. The counselor may review known risk factors for ASD, as well as red flags to look for in a child who is at risk for the condition, and when to seek evaluation. If they cannot answer your questions, they will help to connect you with a professional who can provide you with the information you need.
   
• Support and Counseling: The counselor will work with you to develop strategies to deal with your emotions and reactions to this diagnosis and the possibility of learning more about inheritance or recurrence risk. For example, some individuals with a child on the autism spectrum may struggle to manage their feelings of uncertainty about whether or not to have additional children, or of blame or guilt (which is clearly not warranted, but which people often feel nevertheless). The genetic counselor can assist them with working through some of these feelings.

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.

Additional Resources:

• Understanding Research: Insights from Genetics
• Understanding Research: Environmental Aspects
• Genetic Home Reference -- an online guide to genetic conditions provided by the National Library of Medicine of the U.S. National Institutes of Health.
• The Genetic Alliance -- a nonprofit health advocacy organization for those living with and at risk for genetic conditions.

References

1. Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., et al. (2010). Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125(4), e727-e735. View Abstract

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