- Berman Institute Bioethics Bulletin - http://bioethicsbulletin.org -

Is Knowledge Power?

By Allison McCague


Huntington’s Disease and Family Communication: Is Knowledge Power?


Consider this: if you could know exactly how and approximately when you would die, would you want to know?


This is a very real question facing millions of people at risk for devastating genetic disease. In today’s era of personalized genetic medicine, presymptomatic tests are available for many diseases. One of these diseases is Huntington’s Disease [1], a deadly neurodegenerative disorder characterized by cognitive decline and involuntary muscle movements called chorea, which increase in severity as the disease progresses.


This disease is caused by a mutation in a gene called Huntingtin and is inherited in an autosomal dominant fashion, meaning that if one of your parents has the disease, there is a 50% chance you too will inherit the causative gene mutation. Further, the mutation is highly penetrant, which means that if you have the mutation, you will inevitably get the disease.


A presymptomatic test for the mutation has been available since the mid-1980s, and the test results can also tell you the approximate age at which your symptoms will emerge.


There is currently no cure for Huntington’s, merely ways to attempt to manage the symptoms. So the question remains: knowing that there is no cure, but that you are at risk based upon your family history, would you want to know if you will develop Huntington’s?


Many [2] studies [3] have [4] examined [5] the psychology of presymptomatic testing in at-risk individuals and how knowledge or lack thereof affects one’s mental state. While initial studies found negative psychological effects from a positive test result, it was later observed that once an individual had time to properly cope with the news, these effects dissipated. In fact, it was often found that the agony of not knowing caused more distress than a positive test result.


However, it is vital to consider that these decisions do not occur in a vacuum. Genetic disease is, inevitably, a family affair. Looking at tough decisions and challenges facing individuals at risk for genetic disease through the lens of family communication is essential to understanding them. You may not want to know if you carry the disease gene, but what about your partner? What about your children? What about your siblings? Shouldn’t they have the right to make life decisions based on as much information as possible?


Research has shown that existing norms and communication patterns within families tended to color both how families at risk for Huntington’s approached the issue of disclosure of test results and attitudes toward genetic testing generally.


Although data are slim, available [6] studies [7] have found that families with a more open communication style tend to favor disclosure while families with a more avoidant style tend to want to protect members from a rather painful truth. The data further suggest that it is issues of disclosure and communication between family members that cause more psychological stress than issues surrounding the choice to test itself.


In many families [8] with a more avoidant communication style, individuals cut themselves out of the family to avoid becoming a burden. Often, members with knowledge of risk became closer together while those left in the dark were pushed further away, thus changing the dynamic within the family.


One study directly contrasted the disclosure choices of two families regarding risk status [9]. One family had a positive view of genetic testing and had an open communication style regarding telling their children about risk. The children in this family felt that while living with the knowledge of HD risk is hard, the knowledge that comes from testing is empowering because it allows the family to deal with the disease together. The other family felt that predictive testing caused unnecessary stress and chose only to inform their children about risk when the father began to show symptoms.


While the study showed that the children from both families tended to mirror the parents’ views regarding testing, the children in the family that did not disclose risk suffered more negative consequences. Even though, like their parents, the children in the second family felt that predictive testing causes unnecessary stress, they still expressed a wish that they had been informed about their risk, rather than finding out suddenly when their dad became symptomatic.


Similar patterns [10] have been found [11] in studies [12] that interview children and teens in HD families to investigate disclosure patterns and coping mechanisms. While negative psychological effects were often seen in children who found out about risk suddenly after having it hidden from them for years, fewer negative effects were found in families where open communication was favored and information was revealed in a piecemeal fashion as the children grew. Even in families where HD was a new and unexpected diagnosis, the shock was ameliorated by open and honest communication.


Due to the complex and familial nature of the test results, much of the literature in this area emphasizes the need to a shift toward a biopsychosocial model in modern approaches to genetic disease [13]. A biopsychosocial model would allow for a shift from intervention after disease onset to intervention during asymptomatic stages, better allowing families to adapt and cope with their situation.


More work still needs to be done regarding how communication patterns and coping mechanisms change in families over time as natural family cycles are disrupted by the illness [14] (for example, through the early death of a family member or the assumption of a caregiving role by a child), as well as regarding the impact and perspectives of extended family members.


Understanding how communication style affects coping mechanisms is absolutely essential for genetic counselors and health care professionals to be able to do their jobs properly and assist families in the best way they can. For example, presymptomatic consultations can help the at-risk person and their family early on to facilitate potentially emotionally challenging communication, decision-making, and planning. Additionally, support groups can be created for families facing diseases that have similar psychosocial challenges.


In the end, the decision to test is an extremely personal one. But, whether you choose to test or not, you are not absolved of responsibility to your family members. Their right to make autonomous decisions regarding their health and life choices is just as important as yours.


Whether you choose to test or not, you should communicate with your family about your choice. If you choose to test, you should communicate about your result, and in either case, you should discuss everyone’s risks. Facing the disease as a united front is preferable to isolation and conflict. Knowledge is indeed power. Whether that power is good or bad is in the eye of the beholder, but empowering others is a good place to start.


For more information on Huntington’s disease [1], including causes, symptoms, testing information, and existing treatments.



[15]Allison McCague is a PhD student in the Human Genetics Program at Johns Hopkins and is currently doing a rotation with Debra Matthews in the Berman Institute of Bioethics. She received her B.S. in Biological Sciences from the University of Delaware in 2013 and did her undergraduate thesis on Drosophila developmental genetics.

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