My Child Was Referred By One of Their Doctors For a Genetics Evaluation. What Does That Mean?

By Rachel Rabin, MS, CGC

The thought of a genetics visit can be filled with many different types of emotions, as many people do not know what a pediatric genetics visit entails unless they have been through the experience. We are here to help you better understand what will happen when you take your child to see a genetics doctor. Some common reasons children are referred to see a geneticist are developmental delay, autism, seizures, or hearing loss, in addition to many other reasons. In genetics, we try to find the reason why the child is presenting with the symptoms that they have. If we identify a genetic variant, it is usually just informational, but can sometimes direct your child’s medical management and/or treatment. Not everything we find in genetics is bad! We may find something that may be an explanation for what we already know about your child and there is nothing else associated with the genetic variant. Now, let us outline what a genetics visit may look like.

The steps of a genetics appointment

At a genetic appointment, your child’s medical history and family history are reviewed so we can understand the full story. In genetics, we pay attention to every little detail to give us clues to understand the cause of the condition. You may hear your doctor describe specific features about your child, but do not worry about these! As we said before, every little clue is important to us. We all have features that are different from one another! After your doctor and genetic counselor review everything, they may decide to order genetic testing. During the visit, if your child is old enough, we like to explain everything that we are doing to your child as well. We make sure to explain everything in a way that your child can understand and is appropriate for their age and ability.

What type of testing can be performed?

There are a few different types of genetic testing that can be performed. All of these tests are typically done on a blood sample, but the testing can sometimes be done from a saliva sample. Most children who come into a genetics clinic have testing called a chromosome analysis and microarray analysis as the first line of testing. This is the first line of testing recommended by the American Academy of Pediatrics for children who have neurodevelopmental disorders. It is also a first line of testing helpful in children (or adults) who may be referred to genetics for other reasons. Chromosomes are packages that contain all of our genes and we look under the microscope to see if they are all there and in the correct spot. A more sensitive chromosome test called microarray looks to see if there are small pieces of DNA that are missing or extra. Sometimes these missing or extra pieces, called microdeletions or microduplications respectively, can cause a neurodevelopmental disorder. Individually, many of these microdeletions and microduplications are rare, but collectively they account for about 20% of individuals who have a neurodevelopmental disorder. Depending on the reason for referral to genetics, testing for a specific condition called Fragile X syndrome, an inherited form of intellectual disability, may also be a part of the initial round of testing.

If the first round is testing is normal, what happens next?

Now that we know your child has the expected amount of DNA, tests can be performed to look at the specific letters of the genes to see if there are any misspellings. Sometimes these misspellings can be damaging to the gene and result in a specific genetic disorder. There are many different types of testing that your doctor may order to look at the spelling of the genes. Your doctor may choose to look at one specific gene, they may order a panel of testing to look at multiple genes associated with a specific condition or symptom, or they may order the most comprehensive testing available right now to look at all of our genes at the same time. The most comprehensive tests available right now are exome sequencing or genome sequencing. Exome sequencing looks at the spelling of all of the coding genes in our body, while genome sequencing looks at coding and non-coding areas of the genome. Genome sequencing is still in the early stages of being commercially available and many providers are not yet offering this test in their clinics and are instead offering exome sequencing. The goal of all of these tests is to try to find an explanation for your child’s  symptoms.

There is a possibility that a change in a gene will be identified that is associated with an established condition that will explain the symptoms of your child. Your doctor and genetic counselor will give you all the information that is known about the condition and can help to connect you with other families through either established databases or social media. Remember, just because we found an explanation, it does not mean it is bad!

There is also a possibility that there was no change identified by genetic testing. This does not necessarily mean that your child does not have a genetic condition; instead, it may mean that our testing and knowledge is not good enough to find and interpret the genetic change associated with your child’s condition. Ruling out known diagnoses can still be helpful. As we learn more information over time, in the future, the same test or a different genetic test may be able to provide an explanation for your child’s condition.  

We have our exome results and there is a change in a gene, but the gene is not yet associated with a specific condition. Now what?

Thanks to our ever-changing knowledge, this happens quite often! We are learning new things every day! If this happens, your doctor and your genetic counselor will turn to the literature and the research community to find all the information that is out there about this gene. They may connect you to researchers or other families who also have a child with a change in the same gene! We begin to have more information about what a damaging change in a particular gene may mean as more and more families connect and exchange information about their children. This connection between families may be extremely valuable, as the parents become the experts and learn from each other to help manage their child as best as they can. There is a lot in genetics we know, but there is still a whole lot more that we are learning every day!

If all of this testing is primarily informational, why do I need to see a geneticist and genetic counselor?

While the results from this testing are primarily informational right now, there is a lot of research going on in genetics and there may be more specific treatments in the future for your child’s condition. For parents, it can often be very helpful emotionally to understand a possible genetic cause of child’s condition. Often, a specific condition will be the result of a natural event, and there was nothing that a parent  did or did not do for their child that caused the condition. If you are planning to have another child, this information may help you to understand your reproductive risks of having another child with the same condition. If your child does have a medical condition, such as seizures or a heart condition, understanding the genetic cause for the condition may help your child’s doctors to treat your child as best as they can.

Always remember that you are not alone and your genetic counselor and geneticist are there to support you every step of the way. We know how confusing genetic information can be. Sometimes it may feel like your child may be the only one with his or her condition, but the more genetic testing that we do, the more information we learn, and the more individuals we identify with specific genetic disorders. Even after a diagnosis, staying in touch with your geneticist and genetic counselor may help you to stay up to date about the condition and any research that may be ongoing.

Where can I find a pediatric genetic counselor?

Pediatric genetic consults typically take place within a hospital, where a physical exam of your child by an MD Geneticist is standard part of the consult. However, for individuals who live far from a Genetics clinic, a telehealth consultation with a pediatric genetic counselor is an excellent alternative starting point. Similarly, if your child was previously referred to genetics and you are now wanting to go over results again, or find out if there might be additional testing that has become available in the meantime, a telehealth consult with a pediatric genetic counselor is a convenient way to follow up. 

Grey Genetics offers pediatric genetic counseling appointments and more on the Grey Genetics Network. You can schedule your telehealth genetic counseling appointment here and speak with a specialized genetic counselor through phone or over secure videoconferencing. 

Rachel Rabin is a certified genetic counselor who offers pediatric genetic counseling sessions on the Grey Genetics Network. Schedule an appointment with her!