Genetic Testing Provides Personal Empowerment
The appeal of genetic testing is the precision it offers in predicting, diagnosing and tailoring treatment for disease. Unfortunately our ability to prevent or treat certain diseases often lags behind our ability to diagnose or predict them. The question then becomes: what is the value of genetic testing for a condition when there’s no way to stop, control or cure it? The answer depends on how each person values and uses the genetic information.
Still Alice, Alzheimer’s Disease and Genetic Testing
The movie, Still Alice, which won an Academy Award for actress Julianne Moore, highlights the quandary of genetic testing under these circumstances. Alice, an accomplished professor in her fifties, discovers she inherited from her estranged father a gene mutation known to cause a rare early onset form of Alzheimer’s disease [see Genetic Counseling for Alzheimer’s Disease]. Initially, the doctor made the diagnosis clinically, using memory tests and a PET scan of Alice’s brain to determine what was causing her to forget words in mid-sentence and get lost while running. At this juncture, what would be the value of also conducting a genetic test if it would not affect her treatment? The answer lies in a concept known as personal utility.
Personal utility involves using genetic information for personal empowerment. This includes empowerment not only for the person being tested, but for the relatives who may also be affected. It facilitates an individual’s ability to reflect on his or her personal values and feelings in the context of the genetic information available and to make healthcare and lifestyle adjustments that might not otherwise be considered without the information.
Through testing, Alice was able to discover the precise genetic cause of her disease. Not all cases of early onset Alzheimer’s disease are directly caused by a gene mutation. More research needs to be conducted to understand how people develop the disease. But in this specific case genetic testing not only confirmed Alice’s diagnosis, but provided additional information regarding her prognosis because it showed that her form of Alzheimer’s often progresses more rapidly than other forms. For other inherited diseases, research studies can be tailored to certain genetic mutations, providing another benefit.
Genetic Testing Decisions Vary By Person
In some respects, Alice was lucky not to have lived her entire life burdened by the fear of Alzheimer’s disease. Ignorance was bliss. Ignorance was not an option, however, for her children in light of their mother’s clinical diagnosis, and Alice’s genetic test results provided important information for them. The availability of genetic testing offers the ability to predict and diagnose disease, but that knowledge does not come without its disadvantages. For some, the psychological distress of a positive test result negates the value of the information. Pre-symptomatic testing may also put people at risk for genetic discrimination, such as limiting their ability to get life insurance, or long term care or other insurance.
The availability of genetic testing offers the ability to predict and diagnose disease, but that knowledge does not come without its disadvantages
The movie shows that Alice’s children took different actions regarding genetic testing, demonstrating how differently people view the value of the information tests can provide. Her oldest daughter was tested and learned she had inherited the gene mutation. She used this information to prevent passing it on to her children by undergoing in vitro fertilization and having the embryos tested before they were implanted. Others with a positive result may conceive naturally and test the pregnancy via amniocentesis or other technology, or may choose not to have children. Some use the information in deciding whether to get married or go to college, or to help them determine a career path. Others choose testing simply because, for them, not knowing their status is almost as psychologically upsetting as receiving a positive result.
Alice’s son chose testing and was found not to have the mutation. This knowledge ended his stress of not knowing. Her youngest daughter chose not to be tested but her decision could change as she grows older and faces various life decisions.
Genetic Counseling Can Help
Most people who have genetic tests can benefit from genetic counseling, but it’s especially important and beneficial in situations like Alice’s, with a serious disorder that can’t be prevented or treated. Genetic counselors understand that each person has his or her own set of values, goals, and life experiences that defines what it means to be empowered. They are experts at facilitating the decision-making process at the individual level and helping patients understand genetic test results and what they mean for them and their family. You can find a genetic counselor in your area using the National Society of Genetic Counselors’ Find a Genetic Counselor tool at FindAGeneticCounselor.com.
Susan Hahn, MS, CGC, is an Alzheimer’s disease expert with the National Society of Genetic Counselors, the Neurogenetic Outreach Specialist at Quest Diagnostics, and a voluntary faculty member of the University of Miami Miller School of Medicine.