Is genetic testing right for my family?

The decision to pursue genetic testing is a very personal one for families, and the choice is ultimately up to each family. But for parents who are curious or looking for ways to help their child, testing can be a great option. Here are four common reasons parents decide that genetic testing is the right route for them:

• Family planning — parents are interested in having more children and want to know the chances of another family member having the same diagnosis or if they can genetically pass down conditions.
• Discovering underlying cause — testing can help parents move on from a “search for cause” or get support with a more specific diagnosis.
• Discovering specific genetic abnormalities associated with other medically relevant conditions — for example, Williams syndrome is associated with congenital heart disease. For lesser-known syndromes, parents may be able to find out relevant medical conditions.
• Better understanding of prognosis — with a better understanding of prognosis, parents and medical professionals may be able to provide better treatment.

There is always a drawback to testing in the sense that results can sometimes be difficult for families to hear, with a chance of receiving a result that shows an unfortunate prognosis, abnormalities of unclear significance, and/or a rare condition. He reminds us that because of the quickly advancing technology of genetic testing, some literature may be more pessimistic than necessary. A result showing findings of poor prognosis doesn’t always mean that medical professionals won’t be able to use that genetic information to improve the life of your child.

For more information, see Genetic Testing for Children with Developmental Disabilities and Delays.