Understanding the psychological impact of predictive genetic testing
In trying to determine whether or not I should undergo genetic testing, the scientist in me has turned to original research articles and reviews exploring the psychological impact of genetic testing. My main question in this search is focused on understanding what happens to the psychological and emotional state of individuals who have decided to get tested and receive a positive result (i.e. confirmed as a carrier for the disease mutation). Are individuals more likely to become depressed, anxious, or develop suicidal thoughts or are they able to move past such a shattering event and even feel relief and appreciation for life?
I’ve mentioned this before, but Alzforum is such a great resource. This article (http://www.alzforum.org/early-onset-familial-ad/diagnosisgenetics/genetic-testing-and-counseling-early-onset-familial) very elegantly and succinctly summarizes the findings and discusses the results of disclosing genetic status to early-onset Alzheimer’s disease families in Sweden, Indianapolis, Seattle, and Barcelona. In an effort to avoid redundancy, I’m not going to discuss these findings in too much detail, but rather an overall take-home message.
First though, I’d like to share some beautiful insight from one patient’s perspective about the process. (S)he very much mirrors many of my own thoughts and feelings at the moment (https://www.ncbi.nlm.nih.gov/pubmed/11657179; https://www.ncbi.nlm.nih.gov/pubmed/26141475).
The emergence of a pre-testing crisis:
“This crisis would be a wake-up call, a catalyst to action.”
Confronting the testing process and talking about AD, and developing a support system:
“Bringing up testing and surfacing tough questions broke through a barrier of speaking about the unspeakable. It was a positive experience. It increased our closeness, and made discussing the topic of our future easier in general…It is hard work emotionally to keep something secret that so profoundly touches one's life...It takes energy to cover up and hide information about the defining circumstances of one's existence.”
Worries about a positive result, but using it to make informed plans:
“Would testing make me think about the prospects of AD all the time? I thought about AD anyway…Would I be more worried if the results were positive or less worried? I don't know. I only know I would be more focused in making plans and living my life”
Facing the fear:
“I believe facing a named, defined fear is easier than facing an unnamed one, and I could seek help for dealing with my fear…I believe receiving full information is better than shielding myself from it and that confronting fear reduces it. The pursuit of information is important...”
You can only decide for yourself:
“You cannot decide what is best for another human being to do. Give the tools, including information and counseling, and realize it takes a while for a patient to absorb and work with them; patients may have a lot troubling them. A patient's reaction is complex and changes over time. Genetic testing tests more than genes. It tests personal beliefs about life, disease and healing.”
Like this patient, I feel like it’s finally time to take the plunge. Either decide to get testing done and get it done, or decide not to, and move on. This in-between limbo is the worst and something I just can’t live with any longer.