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Genetic Consultation and Risk Assessment

What is genetic testing?

Deep within each of us are genes, chromosomes and DNA — a blueprint of information about you passed down from your mother and father and generations before them that determines traits like the color of your hair, whether you are left or right-handed or how tall you will be. 

With the exception of identical twins, each person’s DNA is unique. Using a small amount of blood or saliva from our bodies, scientists can now determine if we inherited a medical disorder that runs in our family? Do we have a mutation or a “change” in our DNA sequence that makes us more likely to develop a disease? 

Genetic testing looks at your genetic makeup — what makes you different from every other human being on this planet — to confirm or rule out whether you have inherited a condition from your ancestors, or if you are likely to develop or pass on a genetic disorder to your children. Some diseases can be passed down to a child from just one parent. Other diseases occur only when a child inherits a certain gene change from both parents.

Genetic testing also looks at changes, or mutations, in your own genes that make you more likely to develop certain diseases. We can’t control our genes, but we can use the incredible amount of information they hold deep within them to help make informed, effective decisions about our health care.

Your doctor may recommend genetic testing to:

  • Diagnose disease, such as cystic fibrosis, early-onset breast cancer and family history of cardiomyopathy.
  • Identify the cause of disease allowing for tailored management and screening for you and your family. For example, if you are diagnosed with breast cancer, it may help your doctor to know if it is inherited, which can alter treatment decisions. Your doctor may also stress the importance of advising your family members about recommended diagnostic screenings.
  • Determine the most effective way to treat you if you are diagnosed with or at increased risk for a disease.
  • Identify increased risk for developing a disease (for example, if you carry the BRCA genes for breast cancer, you may also be at increased risk for ovarian cancer).
  • Determine if you are a carrier of a genetic condition that you could pass down to your children.
  • Screen pregnancies or newborns for certain conditions.