Scroll down to learn more.

Before we cover the different types of genetic results, let’s review the cup and ball analogy from module 2.

Remember that you can think of an individual’s chance of developing ASD as an empty cup.

The cup is going to be filled with balls which represent the two different types of factors that contribute to ASD: genetic and environmental.

Genetic factors, also known as genetic variants, that contribute to ASD are represented by blue balls, while environmental factors that contribute to ASD are represented by yellow balls.

The size of the balls is also an indication of how strong a role that variant plays towards developing ASD. For example, larger balls mean the variant play a larger role.

We all start off with a chance to develop ASD...

...but only individuals with enough genetic variants and environmental factors will develop the disorder.

Click here to go back to module 2 if you would like to revist these concepts. If not, scroll down to learn more about the outcomes of genetic testing!

There are three possible outcomes to genetic testing for ASD.

(1) genetic results that could explain why the child has ASD

(2) genetic results that may or may not explain why the child has ASD

and (3) no genetic results found that explain why the child has ASD.

The first possible outcome of genetic testing is finding a genetic variant that is linked to an increased chance of developing ASD.

You can also think of this as identifying a blue ball that fills up the majority of the child’s cup (i.e. a strong genetic variant).

When a significant result is found, this information may let health care professionals know more about the child’s condition and what additional health concerns to watch out for.

For example, a genetic variant may lead to a greater likelihood for the child to be overweight while another genetic variant may lead to a greater likelihood for the child to have seizures.

So by identifying these genetic variants, health care professionals can monitor the child’s weight more closely or try to reduce the risk of seizures.

These genetic results could also provide parents with information about their chances of having another child with ASD...

...and connect them with support groups and other parents whose children have similar genetic variants.

It is important to note that genetic test results will not change the core features of ASD and behavioural intervention is the proven treatment for all children with ASD.

The second possible outcome of genetic testing is finding a genetic variant that may or may not explain why the child has ASD.

These genetic variants may be seen in some individuals with ASD, but also in some individuals without ASD. In other words, we don’t know if the identified blue ball belongs inside the cup or not.

Because we don’t have enough information about these genetic variants, we are unable to confirm if it contributes to ASD or not.

With these results of unknown significance, it is difficult for health care professionals to change medical recommendations or advise on family planning.

But as new information about these genetic variants becomes available, the significance of the genetic results can change to results that do explain why the child has ASD or results that do not explain why the child ASD.

For the third possible outcome of genetic testing, no genetic results may be found that explain why the child has ASD.

If the genetic test results do not find a genetic variant linked to an increase chance of developing ASD, it could mean one of two things.

1) The child’s ASD is likely due to a combination of weak genetic factors and weak environmental factors that may not be picked up by the genetic test. This is because we don’t know all of the genes that play a role in autism at this time.

Or 2) The genetic change contributing to ASD has not been found yet.

It is important to note that when a genetic result is benign, it does not mean that the child does not have ASD. Remember, ASD is a condition diagnosed by observing the behaviours of the child, and not by using a genetic test

In summary, some families think that genetic testing is a powerful tool that will change their child's life. It is important to remember that this may not be the case.

Right now, our ability to identify genetic changes is a lot better than our ability to understand what the changes mean to the chances of developing ASD.

As research into the genetics of ASD continues, we will get better at interpreting what these genetic variants mean.

Remember the cause of ASD is complex and as parents, there was nothing you did to cause it and there is nothing that you could have done to prevent it.

Understanding the genetics behind ASD won’t change the fact that your child has autism.

But it could potentially direct medical management/treatment, inform family planning decisions and facilitate the development of better treatments and interventions for future generations.