Genetic counselors are trained professionals with expertise in interpreting and analyzing personal and family histories for the presence of genetic disease. The actual genetic counseling appointment involves a conversation between you and the counselor to learn more about your personal and family health history, to discuss the relevance of available genetic testing if indicated, to address fears and concerns for self and family, and to review risks, benefits, and limitations of testing. At a session, the genetic counselor will ask you many questions and create a family tree, paying particular attention to medical history of heart disease, diabetes, stroke, sudden death, high blood pressure, and high cholesterol.

If a known genetic syndrome has been identified or is suspected, the genetic counselor will discuss this with you in detail, including genetic testing options if available. Some treatment options are available (surgical treatments, medications) for known hereditary heart conditions. If your family history is not suggestive of a known “syndrome,” then the counselor can stratify your risk for heart disease based on the family health history into “high risk,” “moderate risk,” and “low risk.” You and your physician can use that information to assess frequency of screening and/or necessity of preventative treatments for heart disease.

What is Involved with Genetic Testing?

Selecting the correct gene for testing can be quite complicated. Genetic counselors are trained in analyzing personal and family histories to determine what gene, if any, could be tested for a mutation. If a suitable gene is identified for testing, then you will be guided by your genetic counselor throughout the testing process. In New York State , informed consent is required by law prior to genetic testing. This means reviewing the details of the genetic test with your genetic counselor or other health care provider, and signing a document which includes those details. The next step is to find a laboratory to perform the genetic testing which has approval from the New York State Department of Health ( Wadsworth Center ) to perform the test. Again, your genetic counselor has expertise in working with laboratories. Your genetic counselor will then work with a physician of your choice to order the blood draw and coordinate the testing. Thus, there will be some forms for you to sign, some information to be reviewed, and a blood draw, but your genetic counselor and physician will make the necessary arrangements for you during the genetic testing process.

Text for this site provided by Erin Houghton, MS, CGC
Genetic Counselor, Ferre Institute, Inc