This is part of a blog series from genetic counselors at the Basser Center. This was written by Danielle McKenna, MS, LCGC.
As a genetic counselor, a common question I receive from BRCA positive parents is when their children should come in for genetic testing. I typically encourage that children of BRCA carriers wait until they are closer to the age that a BRCA mutation would change their medical management, which is 25 years of age for women and mid-30's to early 40’s for men. I also recommend that genetic testing should be done in coordination with a genetic counselor or another healthcare provider who has expertise in this area. We recommend this for a multitude of reasons which I have outlined below.
Psychological Impact
It can be anxiety provoking to tell a young woman (under the age of 25) that they are at an increased risk for breast cancer but that we won’t be doing any breast cancer screening for a few years. The chance of a woman with a BRCA mutation developing breast cancer under the age of 25 is well below 1%. However, most people overestimate their cancer risk and it can be challenging to separate lifetime risk from age-specific risk. Furthermore, it is fairly common for young women to feel a lump in their breasts. The overwhelming majority of those lumps are benign and some may come and go during a monthly cycle. However, for a young woman who knows that she is BRCA positive, feeling a lump can be extremely stressful, as it is easy to jump to the worst case scenario (even when the statistics are in your favor). Additionally, their gynecologist or other health care provider may be less comfortable “watching and waiting” on a breast lump in a BRCA carrier, which can lead to multiple unnecessary breast biopsies at a young age.
Motivation
When counseling women under 25 years old and men under 35 years old about BRCA mutations, I always try to get an understanding of their motivation for genetic testing. It becomes clear that some people come in seeking the relief of knowing that they are negative. Other people may present for testing at the insistence of a parent or other family member. It is important to make sure that everyone is truly prepared for a positive result, because there is a finality in seeing that result on paper. It is also important to make sure that the decision is theirs and not being heavily influenced by someone else.
That being said, there absolutely are people under the age of 25 that present for BRCA testing who demonstrate a lot of maturity, thoughtfulness, and a strong desire to know whether or not they have a genetic mutation. Our goal is not to be a barrier to genetic testing, but to ensure that enough information is presented so that an individual can decide for themselves if they are ready for testing.
Autonomy
Professional consensus among genetic organizations has always been to discourage testing of minors (those younger than 18 years of age) for adult onset conditions, such as hereditary breast and ovarian cancer. One of the main reasons behind this is to ensure that an individual can decide for themselves if and when they want to know their mutation status. When a parent tests a child for an adult onset condition, they are taking away that child’s right to decide for themselves. There are other ethical questions that come up when testing a child for an adult onset condition. Would you treat a child differently if they tested positive? Could growing up with this information change one’s sense of identity?
Medical benefit
As previously mentioned, our main recommendation is for people to be tested around the age at which there will be medical benefit, for example initiating breast cancer screening in a 25 year old BRCA-positive woman. However, it is also important to mention that it is okay if someone is of the age of medical benefit but not ready to be genetically tested. In those situations, we recommend that a person is screened as if they are BRCA positive until proven otherwise.