Young People Who Undergo Predictive Testing

Eight young adults who had undergone predictive testing were interviewed.
Twenty young people ages 17 through 25 in Australia were asked to participate in an interview about predictive testing for Huntington's Disease. Eight agreed to be interviewed. Only two of the eight had tested positive so the results of this exploratory study are skewed toward those who test negative.

Nevertheless, the themes that emerged should be explored further. As the authors point out, while other studies of testing usually examine the testing experience and the individual's reactions during a follow-up period, life experiences before testing are also important. Although the interviewees knew that their risk factor was 50 percent, a number of them decided to believe that they had the gene in preference to constantly wondering whether they did or not. Five of them had engaged in risky behavior such as drinking, taking drugs, or getting in trouble with the law. All spoke about the impact of HD on their childhoods, coping with affected family members, learning how serious the disease was and coming to realize that they were at risk.

Following testing, they talked about how their lives had changed. Both gene positive and gene negative individuals discussed the ways in which they were able to move on with their lives. However, two of the young people who tested negative were struggling with the change in their identity. Having prepared themselves for testing results by seeing themselves as gene positive, it was hard for them to make the mental adjustment. No one expressed regret at having tested.

Jean Miller, patient advocate and an advisor to the NYA commented, "The results of this study reflect those feelings that the majority of the members from the HDSA National Youth Alliance [those still at-risk and those who have already tested either negative or positive], have expressed in the past six years since its existence. With so many young people in the US who are more aware, outspoken and open to discussing their feelings on living with HD in their life, I believe a larger study using the themes from this current study could and should be initiated."

Marsha L. Miller, Ph.D.
Holding your breath: Interviews with young people who have undergone predictive genetic testing for Huntington disease
Rony E. Duncan, Lynn Gillam, Julian Savulescu, Robert Williamson, John G. Rogers, Martin B. Delatycki
Guidelines recommend that predictive genetic testing for Huntington disease (HD) should be deferred until the age of majority (18 years in most countries). However, opposition to these guidelines exists, with some professionals arguing that testing may be beneficial for young people, and should be considered much earlier. Empirical evidence is unable to substantiate either position. We aimed to (1) explore the experience of predictive genetic testing for HD from the young person's perspective and to (2) document the impact that testing has upon various aspects of young people's lives. Eight young people who had undergone predictive genetic testing for HD were interviewed. They ranged in age from 17 to 25 years at the time of their test. Four were female and two had received a gene-positive test result. Interviews were taped, transcribed and analyzed thematically. Three themes emerged related to the time before the test was performed: "Living as though gene-positive," "Risk behaviors," and "Complex pasts." Two themes emerged related to the time after testing: "Identity difficulties" and "Living again." When the young people spoke about their experiences of predictive testing, they placed these within a broader context of growing up in a family affected by HD. For some of the young people, uncertainty about their genetic status constituted a barrier in their lives and prevented them from moving forward. Testing alleviated these barriers in some cases and helped them to move forward and make significant behavioral changes. Not one of the young people interviewed regretted undergoing predictive testing.
American Journal of Medical Genetics Part A 2007 Sep 1;143(17):1984-9.