Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes

Abstract

Undertaking presymptomatic or predictive genetic testing should involve a considered choice. Decisions regarding genetic testing for young adults have to be considered within the context of their key life stage, which may involve developing a career, forming partnerships and/or becoming parents. The aim of this study was to develop a theoretical model regarding the factors involved when young adults (18–30 years) undergo presymptomatic genetic testing for inherited cancer syndromes. The model evolved from synthesis of results of a sequential mixed methods study involving a systematic review, a qualitative study and a quantitative study. The resulting model shows that young adults at risk of inherited cancer syndromes are influenced by others to have testing and come to counselling with their decision already made. However, genetic counselling enhances their feelings of autonomy and integration of their genetic status into their lives. Our theoretical model could be a valid support during the genetic counselling process for young adults and their parents, as it may sensitise professionals to the specific needs of this population, including education and support to autonomous decision-making. Counselling approaches should be modified in this population: an inclusive, multi-step counselling process is needed, with timing and setting set according to the specific features of this sensitive population.