I Have Had Genetic Testing. Now What?

If you have genetic testing, you will receive one of three possible results from the doctor or genetic counselor that ordered the genetic testing: positive, negative, or variant of unknown significance (VUS).

What Happens if I Test Positive for a Gene Mutation?

This may confirm your current diagnosis or mean you have an increased risk for this specific type of heart disease in the future. Talk to your doctor about which medical screening or treatment options are right for you.

What Does This Mean For My Family?

Most times, there is a 50/50 random chance that each of your children, brothers, sisters, and parents, also has this same gene mutation. The picture below shows how people usually carry (inherit) and pass on these mutations. Your family members can now be tested for this mutation, if they would like. Any family members who also carry the mutation will have an increased risk for the same heart disease you have, and should see a cardiologist. Any family members who test negative for this same mutation in you are likely not at risk for this heart disease. They should not need to have a cardiologist follow them closely. Your doctor or genetic counselor can go over this in detail with you.

Chart shows the dominant inheritance in people pedigree

What Happens if I Test Negative for a Gene Mutation?

There may still be a genetic cause for the heart condition in you or your family, but at this point in time testing technology cannot detect it. This does not change your heart disease diagnosis. If you have been diagnosed with an inherited heart disease, that remains the same. You may still have a mutation in a gene not included in this test, or a heart condition caused by something that has not yet been discovered. Talk with your doctor or genetic counselor about whether more genetic testing is right for you.  Genetic testing is not usually recommended in family members who do not have heart disease until a mutation is first found in someone with the disease.

If you had genetic testing for a specific mutation found in a family member and your test is negative, you do not likely have an increased risk for the specific heart disease in your family. Because the genetic cause of heart disease in your family is known and you don’t carry that cause, you do not likely need regular cardiovascular screening for this disease.  Your risk for heart disease is not zero, so it is important to keep seeing your doctor and practicing good health habits.

What Does This Mean For My Family?

If you have an inherited heart disease and test negative for a gene mutation, this disease may still run in your family.  All of your close family members (like your brothers, sisters, parents, children) should talk to a cardiologist about medical screening for the signs and symptoms of the disease. It may develop at any age, so this screening is recommended every few years.

This image shows a chart of how heart disease is inherited in Humans

What Happens if my Genetic Test Result is a Variant of Unknown Significance (VUS)?

In short, this means that your genetic test did not find a clear enough answer right now, but that could change with time.

We all have many unique changes (or variants) in our genes, but most of these do not cause heart disease or other health problems. When a testing lab looks at your genes, sometimes it is not clear if the variant found in you increases your risk to develop heart disease, or if it is causes a harmless trait (like eye color) in you.

Over time, the testing lab will collect more information and try to figure out if this genetic variant causes heart disease or not. Participating in family studies, where the lab will look at certain family member's gene for the same variant (perhaps at no charge), may help the lab figure out what the variant means. If the lab is able to figure out what your variant result means over time, they will contact your doctor or genetic counselor.

Your doctor or genetic counselor will not be able to use your VUS test result to make any changes to your medical care right now, so that will remain the same.

What Does This Mean For My Family?

If you have an inherited heart disease and the lab only finds genetic changes they are stated as “VUS”, this heart disease may still be genetic and run in your family.  All of your close family members (like your brothers, sisters, parents, children) should talk to a cardiologist about getting medical screening for the signs and symptoms of the disease. It may develop at any age, so this screening is recommended every few years.