title: Impact of presymptomatic genetic testing on young adults: a systematic review.
abstract: Presymptomatic and predictive genetic testing should involve a considered choice, which is particularly true when testing is undertaken in early adulthood. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents: presymptomatic testing may affect many facets of their future lives. The aim of this integrative systematic review was to assess factors that influence young adults' or adolescents' choices to have a presymptomatic genetic test and the emotional impact of those choices. Peer-reviewed papers published between January 1993 and December 2014 were searched using eight databases. Of 3373 studies identified, 29 were reviewed in full text: 11 met the inclusion criteria. Thematic analysis was used to identify five major themes: period before testing, experience of genetic counselling, parental involvement in decision-making, impact of test result communication, and living with genetic risk. Many participants grew up with little or no information concerning their genetic risk. The experience of genetic counselling was either reported as an opportunity for discussing problems or associated with feelings of disempowerment. Emotional outcomes of disclosure did not directly correlate with test results: some mutation carriers were relieved to know their status, however, the knowledge they may have passed on the mutation to their children was a common concern. Parents appeared to have exerted pressure on their children during the decision-making process about testing and risk reduction surgery. Health professionals should take into account all these issues to effectively assist young adults in making decisions about presymptomatic genetic testing.
authors.affiliation: Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.|School of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
authors.forename: Lea
authors.initials: L
authors.lastname: Godino
authors.affiliation: Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Turchetti
authors.affiliation: School of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
authors.forename: Leigh
authors.initials: L
authors.lastname: Jackson
authors.affiliation: School of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Hennessy
authors.affiliation: School of Nursing and Midwifery, Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
authors.forename: Heather
authors.initials: H
authors.lastname: Skirton
mesh_terms: D000293:Adolescent; D058070:Asymptomatic Diseases; D001294:Attitude to Health; D004644:Emotions; D005817:Genetic Counseling / Q000941:ethics* / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000523:psychology*; D020022:Genetic Predisposition to Disease / Q000523:psychology*; D005820:Genetic Testing / Q000941:ethics* / Q000379:methods; D006801:Humans; D010353:Patient Education as Topic; D055815:Young Adult