Genetic Screening and Testing

Genetic testing, conducted by your primary care provider, can provide a diagnosis for a genetic condition or your risk for developing an illness, such as cancer.

Genetic testing looks for genetic changes in your DNA. Some genetic changes can cause disease or other health conditions. Because you inherit your DNA from your parents, any genetic changes they have can be passed down to you. Genetic tests use a blood or spit sample, and results are usually ready in a few weeks. 

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Genetic screening and testing are important because they can help you:

• Identify carrier status: Genetic testing will inform you if you have a genetic condition that runs in your family before you have symptoms.
• Understand risks to your children: Genetic screening and testing will determine if you could have a child with a genetic condition.
• Plan ahead: When you’re aware of your genetic risks, you can develop a prevention or treatment plan that’s tailored to your genetic profile, potentially increasing the effectiveness of treatment.
• Have peace of mind: Understanding your genetic landscape can help reduce uncertainties about potential health issues and empower you to proactively address them.

Genetic screening can identify an inherit risk condition. More specifically, it can identify:

• Your carrier status for inherited conditions. Genetic screening can help determine if you carry genes for inherited conditions, such as cystic fibrosis , sickle cell anemia, Tay-Sachs disease, thalassemia and others.
• The likelihood of your children inheriting a condition is based on both of their parents’ genes. Prenatal screening can identify conditions such as Down Syndrome, Edwards Syndrome, and Spinal Bifida.
• More than 40 disorders that are identifiable through newborn in Illinois.
• Cancer risks: Genetic screening can help identify certain types of cancer such breast cancer, ovarian cancer and colorectal cancer.

• People with a family history of genetic disorders. 
• Individuals planning to have children. 
• Anyone curious about their genetic makeup and health potential. 
• If your child is exhibiting any of the symptoms in the “Red Flags 4 Genetics” checklist, follow up with your medical provider about genetic screening or testing.

Many kinds of genetic tests exist. No single genetic test can detect all genetic conditions. Your health care provider can help you decide what genetic test is right for you based on your medical and family history and the condition for which you’re being tested.

Here are some screenings and tests to be aware of:

• Newborn screening: performed when a baby is just 24 to 48 hours old; screens for more than 40 disorders.
• Prenatal screening: noninvasive testing that checks for chromosome abnormalities, such as Down syndrome, Edwards syndrome and spina bifida.
• Diagnostic testing for prenatal consumers : recommended for all pregnant women.
• Carrier screening: checks if you carry genes for inherited conditions, such as cystic fibrosis and Tay-Sachs.
• Sickle cell anemia: screens for a group of inherited red blood cell disorders that trigger severe pain and serious health complications. This disorder is screened during a baby’s newborn screening.
• Red Flags 4 Genetics Checklist: a checklist of symptoms to determine if a child has birth defects, developmental delays or early onset of disease.
• Lynch syndrome: screens for an inherited genetic condition that significantly raises a person’s risk of developing cancer.
• Spinal Muscular Atrophy (SMA): screens for a group of genetic neuromuscular disorders that cause certain muscles to become weak and waste away.

To learn more about types of genetics tests, visit this CDC website .

• Genetic testing can involve collecting a sample of blood, saliva, skin, hair or other tissue. Samples are commonly collected from a vein in the arm or by a cheek swab. Your primary care provider will explain what type of genetic testing you will need.