“You're one of us now”: Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP)

Abstract

There has been much debate about the psychosocial effects of predictive genetic testing in minors. The majority of this debate has been theoretical, with little empirical evidence published. We conducted in-depth interviews with 18 young people who had undergone testing, to explore the range of harms and benefits that they perceived were associated with their tests. Participants were eight individuals who were tested for Huntington disease (two gene-positive, six gene-negative) and ten who were tested for familial adenomatous polyposis (five gene-positive, five gene-negative). At the time of their test they ranged from 10 to 25 years of age. When interviewed they ranged from 14 to 26 years of age. Harms described included knowledge of future illness, witnessing distress in parents, negative effects on family relationships and friendships, effects upon employment and school, experiencing regret, feeling guilty and having to confront difficult issues. Benefits included knowledge of gene-negative status, relief from uncertainty, witnessing relief in parents, feeling able to plan for the future, positive effects on family relationships and friendships, feeling empowered and experiencing a sense of clarity about what is important in life. Harms were described in relation to gene-negative test results, as were benefits in relation to gene-positive test results. The testing process itself had several positive and negative effects for young people, distinct from the actual test result. Future research concerning the effects of predictive genetic testing in young people must remain broad and should aim to measure the beneficial as well as the harmful effects that resonate for young people themselves.

The Effect of BRCA Gene Testing on Family Relationships: A Thematic Analysis of Qualitative Interviews

“…Sometimes a special connection arose from sharing the BRCA mutation with relatives. This has been observed in a study by Duncan et al (2008) for young people that had genetic testing for HD or familial adenomatous polyposis (FAP), another cancer predisposition syndrome. In the current study, some family members who did not share the mutation felt left out or less connected to their family.…”

“It was the missing piece”: adolescent experiences of predictive genetic testing for adult-onset conditions

“…These results are in keeping with the most relevant past research, of individuals tested just after 18 years of age. 11,21 It is likely that many young people growing up at risk of a genetic condition have had time to understand the theoretical risk associated with being gene positive and have also witnessed and participated in managing the day-to-day reality of symptomatic disease in their families. Young people growing up in families affected by genetic disease may therefore have task-specific competence and maturity in relation to predictive genetic testing.…”

“…This debate is situated within a context of knowledge that most adults at risk for HD choose not to undergo predictive genetic testing. 10 There have been numerous studies reporting the effects of predictive testing for childhood-onset conditions such as familial adenomatous polyposis [11][12][13][14] and the effects of predictive testing in adults for adult-onset conditions. [15][16][17][18][19][20][21] Conversely, few studies have examined the impact of testing on young people, and none have specifically considered minors tested for adult-onset conditions.…”

Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer

“…12 How young adults choosing to test early cope with such challenges and to what extent pretest counselling provides adequate support and preparation, has not been fully explored. Duncan et al 13,14 identified a number of psychological benefits and harms for minors (FAP) and young people (HD) who had been through predictive testing, some similar to those described in studies of older adults, as well as additional issues including fear of the blood sampling and impact at school. 13,14 Both Werner-Lin et al 15 and Hoskins et al 16 (2012) have recently reported studies of psychosocial impact of BrCa status in younger women (o24 and o35, respectively) as subsets of larger cohorts.…”

“…Duncan et al 13,14 identified a number of psychological benefits and harms for minors (FAP) and young people (HD) who had been through predictive testing, some similar to those described in studies of older adults, as well as additional issues including fear of the blood sampling and impact at school. 13,14 Both Werner-Lin et al 15 and Hoskins et al 16 (2012) have recently reported studies of psychosocial impact of BrCa status in younger women (o24 and o35, respectively) as subsets of larger cohorts. They identified heightened issues for young women including the gap between testing and clinical surveillance, concerns about disclosing result to future partners and feeling under pressure to have children early.…”