Holding your breath: Predictive genetic testing in young people

When it comes to genetic tests, young people are treated differently from adults. If adults want to know if they will develop the genetic condition that runs in their family, they can have a predictive test to find out. However, if young people want to learn the same information about their future, they generally have to wait until they reach the age of 18 years. The only circumstances in which young people can have such tests are when the condition they are at risk for can be treated or prevented.

I was recently involved in a research project where young people were interviewed about the predictive genetic tests they had undergone. Their experiences are fascinating.

Of course, there are good reasons for exercising caution when it comes to testing young people. Specific concerns relate to the potential for depression, anxiety, altered family bonds and discrimination. It is argued that there may be greater potential for psychosocial harm when young people are tested. However, the descriptions provided by the young people who were interviewed indicate that there may also be great potential for benefit.

When young people talk about the tests they have undergone, they refer to the entire experience of being at risk for a genetic condition, not simply the time after they receive their test results. This challenges past conceptions. Until now, literature has focused upon the time after receipt of test results. Little attention has been paid to the phase of life before testing, or to the impact that refusing to provide a test may have.

Take this quote from Ella, who was tested for Huntington Disease at the age of 19 years: 'All my life I thought I was going to get this illness, all my life, and last year I found out I didn't, you know, so for 19 years it feels like I've held my breath, thinking that I'm going to get this illness...Now it feels like I'm a newborn child. It seems really weird to adjust to...the whole time I thought I was going to get it and then [I was told] I didn't have the gene...and I felt like I could breathe for the first time in 19 years'

For a subset of young people at risk for genetic conditions, it seems a specific coping mechanism is often used. This involves convincing oneself that the genetic condition will develop in the future, in order to cope with the possibility that this may in fact happen. However, such a belief about the certainty of future illness can be associated with both harmful beliefs and behaviours.

We have failed to notice the types of lives young people live prior to their requests for predictive genetic testing. Consideration of this fact alters the current debate dramatically.

If young people at risk of genetic conditions are going through life believing they will develop the condition (and holding their breath), providing a test may do no more than confirm this belief or remove it, along with the associated beliefs and behaviours. Thus, when viewed against a background of what is already occurring in the lives of young people at risk of genetic conditions, a predictive genetic test can be viewed as having the potential to alleviate pre-existing harms, promoting benefit. Provision of a test, combined with pre-test and post-test counselling, may therefore be the most appropriate, logical and ethical way to proceed.

International guidelines exist about genetic testing in young people. These show general consensus in that, when predictive tests do not bring about an opportunity for prevention or treatment of the genetic condition, it is recommended that testing be deferred until the young person is able to make an autonomous decision. Several of these guidelines suggest the age of majority as an appropriate age at which testing may first be accessed. Could it be time to revise these guidelines?

 

Rony (r.duncan@imperial.ac.uk) has recently completed a PhD concerning the topic of genetic testing in young people at the Murdoch Children's Research Institute in Melbourne.