When to consult a genetic counsellor

Genetic counsellors are the soothsayers of the maternity world, a resource for families at risk for a variety of chromosomal disorders or inherited genetic conditions. “We can help you interpret information about the disorder, analyze inheritance patterns and the risk of recurrence, review your options, and find the resources you need, depending on the decision you make,” says certified genetic counsellor Mireille Cloutier. “We’re not in the business of making a decision for you. We’re there to provide support.” You might see a genetic counsellor under these circumstances:

• You have a family member who was born with a birth defect or mentally disabled, or there has been a stillbirth or infant death in the family. In this case, prenatal genetic counselling can be helpful, says Cloutier. “Sometimes we need to gather family medical records from the past, and that takes time. If we can find evidence of a specific gene mutation in the family, we can offer our patients a genetic test for the mutation.”
• You have tested positive on a screening or diagnostic test.
• You are older than 35 or 40 (depending on where you live), in which case, you will routinely be offered diagnostic testing, such as an amniocentesis.

Originally posted in December 2011.