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Patient Care

Frequently Asked Questions

What Is Genetic Testing?

There are certain types of heart disease that can be caused by changes in our genetic material. If you have a heart condition, genetic testing can be beneficial in helping determine the underlying cause, as well as the risk to your children, siblings, and other relatives have of developing the condition, too. For example, the likelihood of a child being born with a heart defect is increased greatly when their mother or father has a heart defect. If you have a family history of heart disease that you are concerned about, genetic testing can help clarify the diagnosis in the family and which family members are at risk.

Genetic Counseling

Genetic testing usually begins by meeting with a genetic counselor and/or medical geneticist physician. Genetic counselors and geneticists are healthcare professionals with expertise and specialized training in genetics. Your genetic counseling session will include the following:

  • Review and documentation of medical and family history.
  • Directed physical examination.
  • Explanation of basic genetic and medical concepts.
  • Discussion of relevant hereditary syndromes and their associated risks.
  • Individualized risk assessment.
  • Personal screening recommendations.
  • Referrals to other medical specialists as needed, including high-risk screening programs.
  • Discussion of the risks, benefits and limitations of genetic testing.
  • Blood work for genetic testing when indicated.

What To Expect During Genetic Testing

Preparing for Your Procedure

It is important to bring as much medical history and family history information as possible to your genetic counseling appointment to assist the counselor in making the best possible assessment. If you are concerned about the risk to future children for congenital heart disease, special testing such as a fetal echocardiogram might be possible during your pregnancy.

During Your Procedure

As discussed in detail above, your genetic counselor will review your medical history and your family’s medical history. A physician will perform a physical on you, and blood will be drawn for genetic testing, when available and appropriate. Your genetic counselor is there for you to address any concerns you may have.

After Your Procedure

Your genetic counselor and physician will discuss the results of your genetic test with you. A screening, prevention, and/or treatment plan will be determined and shared with your physicians if you would like.  For female patients who would like to have children, this also includes a prenatal care plan for you and your baby when you become pregnant.