Carrier screening is a type of genetic testing performed on individuals who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. This type of testing is generally done before prospective parents start their family planning to get a better sense of whether they are at risk of having a child with a rare condition. Historically, determining which conditions to test for was typically based on an individual’s ethnic background. For example, individuals of African American ancestry may be screened for sickle cell anemia or individuals of Ashkenazi Jewish ancestry would be screening for Tay-Sachs disease. As genetic testing technologies have advanced, it is now possible to test an individual for a number of hereditary conditions no longer solely based on ancestry.
Many of the tests available evaluate for a wide variety of conditions. Some of the conditions that are tested for, if both parents were carriers and at risk of having a child with the condition, have specific treatments or therapies available that could be used to help minimize a child’s symptoms or in some cases, prevent the disease fully. Other conditions have no treatments available and helping the child involves mostly supportive therapies.
At Chicago Genetic Consultants, LLC, we want to help with your family planning and the benefit of having a genetic consultation prior to testing is having a discussion about the pros and cons of carrier screening so you can determine what testing is right for you and your family planning desires.