Case Study #: Genetic Testing & Screening of Children
Every year, approximately 4 million children undergo genetic testing as part of newborn screening. This is the most common form of genetic testing in the entire population. Other children undergo genetic testing as part of a diagnostic workup for clinical problems (from progressive muscle weakness to developmental delays) or as part of research protocols or family linkage analyses. With the completion of the human genome project, there are hopes that genetic medicine will evolve into personalized medicine and become an integral part of medical practice. The expansion of genetic testing and screening in pediatrics raises ethical issues about the limits of parental autonomy, whose consent is needed, and what rights to privacy, if any, do children have with respect to their parents.
Shari, a 15-year-old, comes to your office with her mother. Her younger brother, Bob, had an abnormal newborn screen for cystic fibrosis (CF), but a sweat test result was negative, indicating that he does not have CF. Bob was found to have one CF mutation (delta F507, the most common mutation). Both parents were screened and found to have delta F507. Shari is very healthy and tall and her parents and physicians are not concerned that she has CF, but her parents wants to know if Shari can be tested for being a carrier. Also, her mother, 2 maternal aunts, and maternal grandmother all had breast cancer in their early 30s. They have been tested and found to have BRCA mutation. Shari’s mom wants Shari tested for the BRCA mutation so that if she is a carrier, she will get appropriate screening even though there is no breast cancer in her father’s family. Shari tells her mother that she is ambivalent about genetic testing.
1. What is Shari’s risk of being a CF carrier?
2. What are the pros and cons of knowing that one is a carrier for an autosomal condition?
3. What role should Shari play in deciding about CF carrier testing?
4. What are the risks and benefits of knowing one is a BRCA carrier?
