Genetic Testing

If you have symptoms of a disease that might be caused by genetic changes (mutated genes), genetic testing can help confirm the diagnosis. For example, it can be used to diagnose conditions like cystic fibrosis or Huntington’s disease.

Predictive and presymptomatic tests look for gene changes (mutations) linked to disorders that show up later in life. These tests can be useful for people with a family history of a genetic disorder, even if they don’t have any symptoms yet.

Predictive testing can find mutations that increase the risk of conditions like certain cancers. Presymptomatic testing can show if someone will develop a genetic disorder, like hereditary hemochromatosis (a condition that causes too much iron), before symptoms appear.

The results can help people understand their risk and make informed decisions about their medical care, including routine care to minimize the risk of the effects of a condition.

If you have a family history of a genetic disorder, like sickle cell anemia or cystic fibrosis, or belong to a group with a higher risk of certain genetic conditions, you might consider genetic testing before having children. Expanded carrier screening can check for genes linked to many genetic disorders and see if you and your partner are carriers for the same condition.

If you have a specific health condition or disease, genetic testing can help identify the medication and dosage that will work best for your unique genetic makeup. This type of testing, often called pharmacogenomic testing, examines how your genes affect how your body processes certain medications.

By understanding your genetic profile, healthcare providers can personalize your treatment plan, choosing medications that are more likely to be effective and avoiding those that could cause harmful side effects. For example, pharmacogenomic testing might be used to guide treatment for conditions like depression, cancer, heart disease or chronic pain. This approach helps ensure that your treatment is safe and tailored to your individual needs.

If you're pregnant, prenatal genetic testing can detect certain abnormalities in your baby’s genes, such as Down syndrome or trisomy 18. Traditional methods include blood marker tests or invasive procedures like amniocentesis, which involves collecting amniotic fluid and carries a small risk of complications.

A newer, noninvasive option called cell-free DNA (cfDNA) testing analyzes fragments of the baby’s DNA found in the mother’s blood. This simple blood test can be done early in pregnancy and provides highly accurate results without risking the baby’s safety.

These tests help parents make informed decisions and prepare for any necessary medical care or support for their baby.

Newborn screening is the most common type of genetic testing. In the United States, every state requires testing for specific genetic and metabolic conditions in newborns. This testing is crucial because it can detect disorders like congenital hypothyroidism, sickle cell disease or phenylketonuria (PKU). Early detection allows immediate care and treatment, supporting healthier lives.

Preimplantation testing, or preimplantation genetic diagnosis (PGD), is a technique used to reduce the chance of having a child with a specific genetic or chromosomal disorder. It is done on embryos created through assisted reproductive techniques (ART), such as in vitro fertilization (IVF).

IVF involves fertilizing eggs with sperm outside the body. During preimplantation testing, a few cells are taken from the embryos and analyzed for genetic changes. Only embryos without these changes are implanted in the uterus to start a pregnancy. This process helps parents reduce the risk of passing on certain genetic conditions.