Is Genetic Testing Always a Good Idea?
Rebecca Miller, MS, CGC
Rebecca Miller, MS, CGC, is a certified genetic counselor at the Inova Cardiovascular Genomics Center and at the Inova Translational Medicine Institute (ITMI). Read Rebecca Miller’s profile.
Kimberly (Rutledge) Matthijssen, MS, CGC, is a certified genetic counselor in the division of medical genomics at the Inova Translational Medicine Institute (ITMI). Read Kimberly Matthijssen’s profile.
The field of genetic testing has grown dramatically in the last few years. That’s a good thing, since patients now have more options to check for genetic traits that might put them at increased risk of developing diseases like cancer or heart disease.
On the other hand, some tests might not be worthwhile, as a recent Washington Post article described. Indeed, tests that are helpful for one patient might not be appropriate for another. As genetic counselors, we can help people determine which genetic tests – if any – are right for them.
Kimberly Matthijssen, MS, CGC
Testing for Cancer Risk
Genetic tests for inherited breast cancer have surged in popularity. Men and women often come into our clinic asking to be tested for BRCA 1 and BRCA 2. Certain mutations in those genes can significantly increase the risk of developing cancers including breast and ovarian cancer.
But while BRCA genes are the most familiar and the most common, it’s important for patients to understand that these are only 2 of many genes that are associated with an increased risk of breast cancer. Testing is available for a variety of genetic mutations that increase the risk of developing breast cancer, as well colon, uterine, ovarian and other cancers. If someone has a family history of disease, we usually recommend testing for many genes including, but not limited to, BRCA1 and BRCA2.
However, not everyone benefits from these tests. We usually recommend testing if patients have either a concerning personal history (such as ovarian cancer, or early-onset breast or colon cancer) or a strong family history of cancer. Genetic counselors can explain all of the testing options available, based on a personalized risk assessment of your family history.
Testing for Heart Problems
While testing for cancer risk has gained popular attention, many patients are unaware that we can now test for certain heart problems, such as certain types of cardiomyopathy (disease of the heart muscle), some arrhythmias (heart rhythm problems) and conditions that cause very high cholesterol levels.
We have a lot of options when testing for these conditions. For some patients, we might choose to look at 1 or 2 particular conditions based on your symptoms and your family history. For other patients, we might take a broader look at possible causes for your heart-related symptoms.
Most of the people requesting these tests have had a cardiac event and are seeking answers. In other cases, though, we perform the tests in people who have a family history of heart concerns.
What to Know Before Getting Tested
Tests for a variety of other diseases and conditions are also available. Some of these can be helpful. But others might screen for conditions that currently have no treatments or clear prevention strategies. In such cases, the test result may cause stress or anxiety, but little or no medical benefit at the present time.
It’s our job to help you decide if genetic testing is the right choice for you, given your family history and medical goals. Another reason to talk to a genetic counselor: Your genetic test results aren’t only about you. They also have implications for family members who might share an increased risk of cancer or other diseases.
If you choose to move forward, we can help you understand how the results might affect family members – including those already living, as well as future children you might have.
Learn more about genetic counseling and genetic testing at the Inova Cardiovascular Genomics Center and the Inova Cancer Genetics Program.