PATIENTS AND FAMILIES
Patients & Families

All of us have questions about our genetic makeup. Some of us know that a particular health condition, like cystic fibrosis, intellectual disability (mental retardation), cancer or early heart attack runs in our family. Expectant parents may have concerns about their child having a birth defect. Often families question how to best manage a genetic condition or birth defect and where they can get help. When a genetic condition or birth defect happens, family members often ask:

• Is there a known cause, some condition that can be treated or prevented?

• Why did this happen?

• What are medical management issues?

• What can we expect in the future?

• Is there a test to detect this?

• Can this be detected in the future pregnancies?

• Where can we go for more information and help?

When you have questions like these, it’s important to ask your doctor about them. Your doctor can help you decide if a genetic consultation would be beneficial for you or your family. Genetic evaluation and counseling can help answer some of these questions. Currently, genetic testing is available for more than 1500 conditions.
This number is increasing rapidly.
Updated: 1/11/10