What to Expect: The Pediatric Genetics Visit


Why does my child need to see a geneticist or genetic counselor? What happens once we get there?

There are many reasons why someone might end up in a pediatric genetics office. Your child may have been born with a heart problem, cleft lip, or unusual facial features. Maybe your child has speech delay, motor delays, or autism. You might even be there because your pediatrician thinks your child is consistently underweight or a bit too tall for his age. Truth be told, you’re at the pediatric genetics’ office to answer the question; Why? To be more specific, in the genetics’ office we’re trying to answer the question, “Was this caused by something genetic?”.

At the pediatric genetics office, you typically will meet with a genetic counselor who will review with you your pregnancy history, your child’s medical and developmental history, and your family medical history. The genetic counselor will ask you some pretty detailed questions about things you used to know, but that this point, you may hardly remember. Be prepared to answer questions such as: How old was he when he said his first word? When did he start to crawl; to walk? How old was your grandmother when she passed away? What was the cause of her death? How many brothers and sisters did your father have? (As I often say to my patients, we ask very difficult questions in Genetics!) Sometimes the genetics office will send you a questionnaire with these questions for you to fill out at home, before your appointment. Consult with your spouse, parents, siblings, and try to fill in as many details as possible.

If your child has already been evaluated by various specialists, it is crucial for you to bring as many records as possible along to the genetics office. It is important for the genetics team be able to review these evaluations.

Together with a detailed physical exam performed by the geneticist, these histories form a story which the geneticist and genetic counselor use to try and determine if there is an underlying genetic cause for the issues that your child is experiencing. Each piece of the story is another clue which helps the genetics team figure out if they suspect that your child’s issue is genetic, and if any genetic testing would be warranted. Interestingly enough, a big part of your genetics evaluation has NOTHING to do with genetic testing. This shouldn’t be so surprising, as genetics as a field has existed for many years, even before we had that ability to perform any genetic tests.

Most genetic testing in the pediatric realm is done on a blood sample or a urine sample and in rare situations, skin or muscle biopsies may be necessary. The geneticist may recommend that your child undergo other evaluations, such as imaging studies, or that your child be seen by other medical specialists who may have a better grasp on the specific symptoms your child is experiencing.

The end goal of a pediatric genetics visit is to help care for your child in a better way. If your child’s unusual birth marks are isolated, then we may very well just send you home with the recommendation to follow up with a dermatologist every few years. However, if through this evaluation we determine that your child’s usual birth marks are actually part of a genetic syndrome, we might recommend that he see a number of other medical specialists who can monitor him efficiently.

The other benefit of determining if your child’s issues are genetic in nature or not is that it enables the genetics team to provide you with an accurate recurrence risk; meaning, we’ll be able to tell you what the chance is for you to have another child with the same or similar issues.

See? That wasn’t so bad. Maybe you’ll even get stickers at the end, too.

Posted on October 18, 2012, in Chani's posts and tagged , , , . Bookmark the permalink. 1 Comment.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: