ESPRIT special predictive medicine – 5/5 – transforming the anxiety of prediction into open anticipation of the inevitable



The July edition of the ESPRIT journal is devoted to “speculations on genetics”. Gènéthique reviews this packed and relevant document throughout the week, focusing on summaries of the 5 articles it contains, the sixth one having already been mentioned. Today: anticipating handicap – the psychological risks of genetic tests.

 
Marcela Gargiulo and Alexandra Durr, psychologist and neurogeneticist, respectively, present their work through families affected by Huntington’s disease. More specifically, through this particular case (50% risk of transmission to each child), they analyse the effects of using a pre-symptomatic genetic test to establish whether an adult, who is not yet sick, including at least one patient who is a carrier, will or won’t be definitely affected by the disease.  

 

Whereas Huntington’s disease is one of those rare conditions in which genetic testing does not highlight the risk of onset but gives a real diagnosis, surprisingly, the authors give a warning right from the start: “the predictive options offered by genetics (…) can create a sort of informative illusion’ concerning our relationship with the body, time and death”.

In fact, although their experience with individuals at risk who wish to undergo the test in order “to know” and “make plans” regarding their future emphasises “at what point a person may need to leave behind a passive approach triggered by the inevitable”, they also note that “the number of suicide attempts, like depression, was higher amongst non-carriers of the gene as opposed to carriers”. Thus “paradoxical reactions and the sensation of guilt” highlight how living with the reality is more complex than the binary, positive result to a genetic test.

 

Similarly, they see a “small number of requests for prenatal diagnosis in Huntington’s disease amongst gene carriers”, which suggests that, for these people, “the desire to have a child responds to laws other than those of genetic risk”.

Stressing the overwhelming effects that genetic testing could trigger over time (a confirmed future handicap becomes an immediate concern, turning the past into the unknown and generating sadness, etc.) Marcela Gargiulo and Alexandra Durr explain that “anticipation could comprise (…) an attempt to manage how one is perceived, the continuity of which could be challenged by the trauma triggered by a predictive diagnosis”. It thus, “becomes a case of transforming the prediction(…) into anticipation (…) which is open to the inevitable!’”(Sylvain Missonnier). 


Sources: 

ESPRIT (Marcela Gargiulo et Alexanra Durr) Juillet 2014