Genetic Testing Catastrophe

Genetics and healthcare is a popular topic for television drama.  The ethical conundrums that arise with genetic testing coupled with the rarity of genetic conditions make for interesting stories.  As a genetic counselor, I often notice holes in the plot or inaccuracies in the way in which a genetic condition is portrayed or how a genetic test is discussed.  As much as I wish I could say that they got it wrong with the genetic testing story line in the sitcom, Catastrophe, writers and co-stars Rob Delaney and Sharon Horgan tell a story that seems so painfully true to life that I believe it must be based on lived experience.

Catastrophe tells the story of two 40-something singles who decide to make a go of family life together after a brief affair that results in an unplanned pregnancy.  The second season of Catastrophe will be available on Amazon on April 8th.  For those of you that have not yet watched the first season, it is a great time to get caught up.  Spoiler alert for those who would like to watch the show first – read no further.  Also a warning for those who are sensitive, this show earns its “Mature Audience” rating and they dive right into the adult content.    

The fourth episode of the show (season 1) tells Sharon’s prenatal genetic testing story.  She is first made aware that she had prenatal genetic screening at the time the doctor delivers the test results:  a 1 in 50 chance that the baby she is carrying has Down syndrome.  When Sharon replies that 1 in 50 doesn’t seem “that bad”, the doctor is quick to counter that this is “high risk” and he recommends an amniocentesis.  She refuses and rushes out of the office, beginning an emotional roller coaster ride.  

Just as Sharon seems to be settling from the initial surprise of the test results and their presentation, she gets a call from the obstetrician’s office.  In fact her test results were incorrect; the risk is actually 1 in 25.  With this, she is overcome by anxiety and decides to move forward with the amniocentesis, a diagnostic test that can tell her with certainty if the baby does or does not have Down syndrome. The amniocentesis results return showing that the baby does not have Down syndrome, news that she learns on a cell phone call while in the grocery store.  This news causes Sharon to lay down right in the middle of the grocery store aisle, perhaps to show the release of stress that came with the uncertainty of the wait for results.  The viewer is left to imagine much of what must have been going through Sharon’s mind with all of this testing.  What would she have done if the results showed that the baby did have Down syndrome?  While her emotional turmoil is obvious, Catastrophe leaves the answer to this question a mystery.   

I am grateful to Sharon and Rob for bringing this topic into the light with depth, wisdom, and wit.  I know so many have been through situations such as this but usually experience it all very privately.  Rob and Sharon revealed so many misunderstandings that may come up regarding the tests themselves and also expressed the real concerns and questions that expectant parents often have about what it would mean to have a child with a disability who would need more support and resources.  While they tackled these questions, I appreciated the way in which they approached discussions about disability, challenging stereotypes and preconceived notions.  So often when Down syndrome is discussed  in a prenatal context, information is presented in a negative and clinical manner.  With honesty and humor, Rob ponders whether some of Sharon’s negative assumptions are misinformed and recounts some of his past experiences that bring normalcy and humanity to the conversation.   

Sharon’s genetic testing experience is far too common, but also not at all the way it should be.  It is distressing that with decades of prenatal testing for Down syndrome, healthcare systems don’t do a better job of supporting women and couples.  High quality and up-to-date information about the tests and the conditions that they screen for is essential.  Equally important is creating the opportunity to help people find their way to put this information into the context of their own lives.  As prenatal genetic testing options expand to include an increasing number of conditions, and the commercial market forces that seek to increase use of these tests grow, supporting patients through these tests will be increasingly complex and also more important than ever.

In an ideal world, we would have seen Sharon and Rob given the opportunity to receive objective information about their prenatal testing options:  what the tests are, what they test for, what they can tell you and the possible next steps depending on the results.  The couple would have been encouraged to explore their values about these tests and their implications with each other before having any screening tests.  They would have been able to discuss their preferences with their doctor without judgment or coercion to choose a specific path.

If they elected to undergo prenatal screening, hopefully they would have had an opportunity prior to that decision to learn more about Down syndrome and the other conditions being screened for before getting those test results back.  And when the doctor delivered those screening results, ideally he would have done so in an objective manner leaving his subjective interpretation of the level of risk out of the conversation.  It would have gone something like this, “Sharon, I have the results from your genetic screening back.  They show that the chance that the baby has Down syndrome is 1 in 50 which is the same as 2%.  That means there is a 49 in 50 chance or 98% chance that the baby does not have Down syndrome.  If you would like to know for sure, you can consider undergoing a diagnostic testing known as amniocentesis which can tell you yes or no with certainty.  However, amniocentesis does have a small risk of miscarriage….”  And hopefully, prior to undergoing amniocentesis she would meet with a genetic counselor who could talk through all of this in more detail, to provide emotional  support to Rob and Sharon, to answer questions, explore misconceptions, hopes and fears, and to provide resources.

While in Catastrophe, fiction mirrors reality, it is important to know that individuals should always be given a choice as to whether or not this testing is done during pregnancy.  This is not just my opinion or that of the Genetic Support Foundation – it is supported by policy and practice guidelines throughout the United States, Canada, and Europe, including the UK where Sharon and Rob experienced prenatal care. Let’s continue to work towards improving the lived experience of women who are faced with decisions regarding prenatal testing.  Shows such as Catsorophe certainly help in that goal by shining a light to bring some awareness to these issues.  Healthcare professionals, must continue to strive to support informed decisions about these screens by providing objective information and resources.  

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