I did not have a vision of motherhood from a young age. In fact, I don’t think I really even considered the idea of having kids until some unexpected biological switch flipped in me. Do you remember that scene in the 2009 Disney Pixar film, Up when Ellie and Carl are watching the clouds roll by and suddenly they all start to resemble babies? That is the way I remember feeling. It was as if out of the blue, having a baby was all I could think about.
Although this need to have a baby seemed to come from some emotional and primitive place, I wanted to be organized about my approach. I scheduled a “preconception” appointment and asked my husband about his thoughts on genetic screening. As a genetic counselor working in a prenatal setting, testing guidelines were imbedded in my mind – and I knew very well what testing options should be available to me. My husband thoughtfully asked, “If we are both carriers for cystic fibrosis or something else, does that mean that we are not going to have a baby?”
Whoa. What would we do if were both carriers??
While I am incredibly grateful that my husband was insightful enough to have asked this question, it is humbling for me to admit that it was him and not me who brought this to the table. After all, isn’t this genetic counseling 101? I realize now that while I had considered this question hypothetically many times previously, without the vision of parenthood, I did not appreciate its magnitude.
What followed were many conversations about how we felt about assisted reproductive technology and prenatal diagnosis. We tried to imagine what it would be like to have a baby with a genetic condition or disability. What it would be like not to have a baby. These conversations were pivotal for me both personally and professionally. It was then that I truly began to realize the tremendous and complex affect these once seemingly “simple tests” may have.
Professional guidelines regarding prenatal/preconception screening emphasize the importance of informed and autonomous decision making . The listed critical components of the informed consent process often focus on statistical risks and the clinical details of the condition being screened for. Underemphasized is the importance of consideration of what this testing will mean for the individual or couple. How might a positive test affect their hopes and dreams? How might it change their path in pregnancy?
When an individual would use results to facilitate reproductive decisions, testing can be empowering. What is sometimes overlooked in our well-intentioned goals to provide patients with knowledge however, is the potential harm and disempowerment that may result when testing information is not desired.
Currently a minority of our patients will have an abnormal test result but we must remember that the emotional impact for those individuals can be life changing. I have known many who meet abnormal or unclear results with guilt, fear and confusion.
The term “toxic knowledge” has been used to describe genetic information that individuals may regret learning, following a prenatal genetic test (Bernhardt 2012). With the flood of new testing options, I am concerned about the potential increase of toxic knowledge and how this will play out in people’s lives. How will it change the pregnancy experience? The relationship between parent and child? The way people view themselves?
I know very well the comfort and safety that can be found in the scientific facts, procedures, clinical prognosis and statistics. There is so much information that is important for us to convey. I write to encourage you to go a step beyond that information and to delve into the heart of what this testing may be about for the person sitting in front of you. That person may be a patient you are seeing for the very first time – it may be your spouse, your child or a dear friend. It can be incredibly challenging to sit with someone and help them see how testing may impact their path in life, especially if that path seems very different from one you would take yourself. However, profound satisfaction may result through using your skills to support someone as they find their own way. What drew me initially to this field was a love of the science and my desire to share my knowledge with others. Although I still love this aspect of genetic counseling, what I now find most gratifying is working to advocate for the needs, hopes and dreams of the people I work with.