Genetic Testing

Genetic testing is a way to identify changes in your DNA sequence or chromosome structure. In many cases, the right diagnostic test can definitively identify or rule out a genetic condition.

There is not a test for every genetic condition, and some conditions have more than one test. Our genetic specialists will help guide you to the best plan for you.

The reason why genetic testing is important is that as science advances, we gain a better understanding of the effects of genetic variances. This helps us develop a treatment plan to manage medical complications, if a genetic disorder is discovered.

Types Genetic Tests Available at Rush

Whether you're an expecting mother, concerned your child has a genetic disorder or you found out your sister has breast cancer, we offer a range of tests for a variety of conditions and treatments.

• Carrier testing: Carrier testing is available if you have a family history of a genetic disorder or as part of your prenatal care before you get pregnant. We also offer carrier testing to people in certain ethnic groups that have increased risks of genetic issues that can lead to certain diseases, such as cystic fibrosis, sickle cell disease (sickle cell anemia), Thalassemia disease or Tay Sachs disease.
• Newborn screening: The Illinois Newborn Screen includes more than 50 conditions that can be life-threatening for a newborn. With a simple blood spot test, the newborn screen identifies conditions such as phenylketonuria (PKU) and congenital hypothyroidism that require regular treatment. By diagnosing babies shortly after birth, we can dramatically improve their long-term health.
• Predictive testing: These tests can be helpful if you have no symptoms of a disease, but have a family member with a genetic disorder. These tests can determine your risk of developing some cancers (like colon cancer, breast cancer and ovarian cancer), as well as neurological, cardiac and connective tissue disorders.
• Preimplantation testing (PGD): If you're undergoing in vitro fertilization (IVF), this test gives you the best chance to have a healthy baby. Performed on embryos created through IVF, families can opt to implant only embryos that do not have mutations. This will reduce the risk of having a baby with a particular genetic disorder, such as Down syndrome.

Who Would Benefit From Genetic Testing?

The decision to undergo a genetic test is extremely personal. You should consider your family history and discuss your options with your providers to help decide what's right for you. Genetic testing can do the following:

• Accurately diagnose symptoms of a genetic disease
• Reveal genetic diseases before they cause any symptoms, allowing preventive maintenance and care
• Help you and your care team determine the best course of treatment for specific genetic diseases
• Identify a genetic disorder in a pregnancy
• Determine if you and your partner might be gene carriers for a disease could affect your children

Rush Excellence in Genetic Testing

• Preparing for pregnancy: If you're starting a family, we'll bring together genetic counselors and multiple specialists to meet with you and your partner to discuss your unborn baby’s health. We provide medical expertise and map out a treatment plan for you and your child.
• High-risk clinic for gastrointestinal (GI) cancer: If you have underlying pre-cancerous conditions or genetic factors that put you at higher risk for developing GI cancers (colorectal cancer, esophageal cancer, gastric cancer or pancreatic cancers), we offer personalized GI cancer risk assessment, screening and preventive care.
• Cancer genetic testing and counseling: Our cancer genetic counselors and physicians will talk to you about your hereditary predisposition to cancer. We can offer genetic testing for conditions that are related to colon cancer, breast cancer, ovarian cancer and other cancer or tumor types. For example, physicians check women for genetic mutations (BRCA1 and BRCA2) associated with breast cancer and ovarian cancer using a simple blood test.