Guest Post: Information Detoxification

By KATIE STOLL
Katie Stoll is a genetic counselor in Washington State. She graduated from the Brandeis University training program in 2003 and since that time has held positions in the areas of prenatal, pediatric and cancer genetics.
 

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.

I imagine we have all had some personal experiences that have altered the way we practice as genetic counselors. I would love to hear your experiences and any thoughts you may have about toxic knowledge.

5 Comments

Filed under Guest Blogger

5 responses to “Guest Post: Information Detoxification

  1. elo8

    Great piece. I don’t think I’d heard the term “toxic knowledge” before.
    At least a good handful of the patients I see for AMA when GA is still early tell me they Don’t want the quad screen.
    I think some of those who I see for AMA after their quad is drawn or for a positive quad screen would have opted out if they’d been counseled beforehand.
    With the way prenatal care is set up now (where i am at least), I can’t think how routine pre-test counseling would be feasible. Patients (at other centers) of a higher socioeconomic status I think might start to become more savvy and walk into their first OB visit with a better idea of the testing they do and don’t want. But the patients I work with will keep getting referred to talk about the implications of testing only after they’ve stuck out their arm for a bunch of tubes of blood to be drawn. And if it’s something like a positive CF screen, most of the time the partner won’t have insurance and won’t be able to afford the $200 out-of-pocket cost for him to have CF screening done. Most of my patients tell me termination isn’t an option for them. And for others, by the time screening results are available, they are outside the (recommended) window for prenatal diagnosis and/or possible termination.
    Some of my patients definitey do really appreciate all of the testing options. But others would have preferred to opt out.

    • Katie Stoll

      I agree that the current structure of prenatal care does not provide us much opportunity to be involved in pre-test counseling and as is, this system does not seem conducive to truly informed patient decision-making. We spend a lot of our time as genetic counselors doing damage control –-sharing the risks, benefits and limitations of testing only after the (sometimes toxic) results are in. I really believe that genetic counselors are the best-suited professionals to support informed and holistic decision making before testing. I would love to see us tackle this problem with some innovative approaches that could change the status quo of the healthcare system so that we could reach people when they still have a choice to make about whether or not testing is wanted.

  2. Katie–thank you for this post. Too often in discussing issues about genetics and prenatal testing, the level of conversation can be in the abstract based on principlism and the informed consent process. But, your post takes those academic discussions and brings them to the level where they actually play out: when patients are actually confronted with the contingencies involved with prenatal testing. I believe my recent post on “The Gradual Trap,” while perhaps complimentary of the issue of toxicity, is guilty of remaining at the informed consent process. Again, thank you for sharing your own experience to bring empathy in addressing the administration of prenatal genetic testing. [link to referenced post: http://www.downsyndromeprenataltesting.com/2012/11/26/the-gradual-trap-informed-consent-process-understanding/%5D

  3. Melissa Lenihan

    Katie-
    I just had the opportunity to read your article information detoxification. I wrote an article for the recent edition of the Journal of Genetic Counseling devoted to disabilities based on both my 20+ years as a genetic counselor and as a mom to a son with a disability. In the article I address the importance of educating patients about the tests BEFORE they take them. The science has gotten so far ahead of the ethical, human side of testing. I believe strongly that the structure of prenatal care needs to change to allow for thoughtful and meaningful discussions with patients before they take the available tests. Would love to have further discussion about this.
    Sincerely,
    Melissa Kershner Lenihan

    • Katie Stoll

      Melissa,
      Thanks for your comment and for the connection to your article. I had read it before and just re-read it. It is a very powerful piece and really resonates with me. Like you, I feel passionately that we need to do a better job of reaching people before they undergo testing. We have had some success in this at my current workplace and I have many ideas about how we might improve this process. I would love the opportunity to hear your thoughts about how the system could be restructured to better support individual needs. Perhaps there will be an opportunity for us to collaborate.
      Katie

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