My Child Was Referred for a Genetics Evaluation. What Does That Mean?

By Rachel Rabin, MS, CGC · Oct 2019

The thought of a genetics visit can be filled with many different emotions, as most people don't know what a pediatric genetics appointment entails unless they've been through it. Common reasons children are referred include developmental delay, autism, seizures, or hearing loss — but there are many others. The goal in genetics is to find an explanation for why the child is presenting with the symptoms they have.

What Happens at the Appointment

Your child's medical history and family history are reviewed carefully. The doctor and genetic counselor may note specific features about your child — these are clinical observations, not judgments, and every detail can be a clue. After reviewing everything, they may decide to order genetic testing. If your child is old enough, everything is explained to them directly in age-appropriate language.

What Types of Testing May Be Done

Testing is typically done on a blood or saliva sample. First-line testing usually includes chromosome analysis and microarray analysis — checking whether chromosomes are all present and in the correct arrangement, and looking for small extra or missing pieces of DNA (microdeletions or microduplications). These account for about 20% of neurodevelopmental disorders. If first-line testing is normal, the next step may look at the actual spelling of specific genes — from a targeted single-gene test to a broader gene panel to exome sequencing, which looks at all 20,000+ coding genes at once.

When There Are No Answers

A negative result doesn't mean your child doesn't have a genetic condition — it may mean that our current testing and knowledge is not yet able to find the answer. As we learn more, the same or a different test may be able to provide an explanation in the future. Sometimes a gene change is identified but that gene hasn't yet been associated with a specific condition — in these cases, connecting with researchers and other families with the same gene variant can be extraordinarily valuable. You are not alone, and your genetic counselor and geneticist are there to support you through every step.