Angelina Jolie shared publicly her decision to have a preventive double mastectomy after genetic testing revealed that, due to a mutation in the BRCA1 gene, she carried an 87% risk of developing breast cancer and a 50% risk of developing ovarian cancer. Jolie identifies her mother’s decade-long struggle with ovarian cancer and death from that disease six years ago as one of the primary influences behind her decision.
Angelina Jolie’s story has captured the attention of the world in part because it depicts the crossroads at which we stand in the field of medicine. The scientific community has made incredible advances in the world of genetic testing, but how do we use it? Can genetic testing allow us to no longer be helpless victims of disease and empower us to take more control of our own fate? Furthermore, can we utilize this technology to change the course of disease for our children?
When is genetic testing appropriate for my child?
The American Academy of Pediatrics (AAP) has developed some guidelines to assist parents and health care providers in the decision-making process of genetic testing for children. Based on these recommendations, here are some thoughtful first steps in determining the right path for your family if you’re considering genetic testing:
Ask yourself, what is in the best interest of my child? Take a moment to put aside all of the fears and emotions and consider what your child stands to gain from this testing. Think about the potential medical issues as well as psychosocial and reproductive aspects. Talk with your pediatrician about your reasons for seeking genetic testing and consider both the positives and the negatives.
Don’t discount the mental and emotional toll genetic testing may bring. Genetic testing can have profound effects on a child’s emotional wellbeing. For some, it can ease the anxiety and fear associated with a disease known to run in the family. For others (whether the result is positive or negative), the answers can become a burden, affect the development of a child’s self-image, affect their self-esteem, or alter their expectations of privacy. Knowledge of a future disease state, knowledge that a child may be a carrier for a disease, or assurance that a child has escaped a familial illness each can affect the way parents relate to their children and the way siblings behave within the family dynamic.
Pinpoint your reasoning for seeking genetic testing. The reasons parents commonly seek genetic counseling generally fall into one of these categories:
- Newborn screenings are conducted routinely in every state soon after birth. They are mandatory, however, parents may opt out. The diseases that are tested are generally those that may have devastating or fatal effects on a child without proper medical treatment. The AAP supports mandatory newborn screening for all children.
- Diagnostic testing serves to confirm the diagnosis of a disease in a child who shows symptoms of a disorder. Testing can also be used in certain cases to determine proper drug regimens and guide a child’s therapy. The AAP supports diagnostic testing when the child’s physician, the child’s parents, and the child (if he is old enough to offer consent) are in agreement that it is in the child’s best interest.
- Carrier testing determines whether a child may carry the gene for a specific disease, even though they do not have the disease. The AAP doesn’t support routine testing for carrier status unless there are clear health benefits that will be realized in childhood. For some, carrier status may play an important role in reproductive decisions in adulthood, but it may be better to wait until the child is of age to agree to such testing on his own.
- Preventive testing may be warranted in children who don’t yet show any symptoms, but are known to be at risk for certain diseases. If the disease is expected to show up in childhood, it is often in the child’s best interest to test for the disease. However, according to the AAP, for diseases that are not expected to occur until adulthood, testing often should be delayed until the child becomes an adult.
Consider unwanted information that may be brought to light. Our genetic footprint tells volumes about our family relationships- paternity or adoption, for example-and genetic testing may reveal issues the family wasn’t planning to confront. Also, it’s important to consider the implications that one person’s genetic test results may have on the entire family.
Speak with a genetic counselor. When navigating the complex medical, emotional and ethical considerations of genetic testing, it is best accomplished with the help of experts to guide you. Genetic counselors can assist you in determining whether testing is appropriate for your child, help you understand the implications the results have for your family and guide your next steps.
The field of genetic testing is rapidly evolving, and parents will face more questions as technology advances. One key piece of advice from the experts if you’re thinking of heading down that road: don’t try to go it alone. Although companies are beginning to offer do-it-yourself, at-home versions of genetic tests, don’t be fooled.
The test may be a simple blood test, but understanding the results and how it affects your family is often anything but simple.
Courtney Schmidt is medical communications editor, Arnold Palmer Hospital for Children. She blogs at Illuminate.