VIP Summary #1: Sequencing may offer smoother sailing in diagnostic odyssey

Original Article by Sarah DeWeerdt

Read it here: http://sfari.org/news-and-opinion/blog/2014/sequencing-may-offer-smoother-sailing-in-diagnostic-odyssey


Arriving at a diagnosis of autism, for many families, can sometimes be a long process with many evaluations, questions, and uncertainty. After the diagnosis of autism is reached, though, many families have another question: What caused my child’s autism?

Years ago, we couldn’t answer this question for the majority of families. Now, we understand that there are specific genes that are related to brain development that, when they’re not working properly, can increase the risk for autism.

This article describes how whole exome and whole genome sequencing have increased the chance that a family will learn the genetic cause of their child’s diagnosis of autism.

In one study that offered genetic sequencing to 100 families who have children with all different types of health problems, including some families with developmental delay and/or autism, a genetic diagnosis was found in 45% of those families. This number is encouraging, especially because these children had already been through multiple tests, studies, assessments, and procedures.

The question still remains: What do we do with this diagnosis? We might be arriving at a genetic diagnosis more quickly than in the past, but in 2015, we’re just beginning to scratch the surface with what we understand about the hundreds (if not thousands) of genetic causes of autism. This is why your participation in Simons VIP Connect is important.

When we learn about a genetic diagnosis, there’s one answer. But after that, we haven’t studied enough children with each individual genetic change to understand which features are specific to the gene change and which are not. The more children and families we study who have these changes, the more information researchers will be able to compile to then share with the medical community.

We want to take the next step after diagnosis and connect families with the same genetic diagnosis so that you can have a resource for sharing what you’ve been through and can help each other manage any ‘bumps in the road.’ At Simons VIP Connect, we want to learn more about your child’s medical history, behavior, and other concerns so that we can work toward our shared goal of helping each other learn what to expect.