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.

Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

“…Healthcare professional attitudes were identified as influential in decision-making and highlighted the need for neutral language and non-directiveness during RGCS genetic counselling [ 26 , 34 , 35 , 36 , 41 , 48 , 53 ]. It is widely accepted that genetic counsellors are specifically trained to use non-directive counselling techniques and neutral language [ 67 ] to enhance patient autonomy [ 68 ]. Adopting this form of communication may be difficult for non-genetic healthcare professionals, but it is important if individuals and couples being offered RGCS are to make informed decisions in line with their own beliefs and values.…”

“…An individualised, or tailored approach to pre-test counselling, result delivery and post-test counselling, may be difficult to achieve when RGCS is being offered by non-genetic healthcare professionals. How can enhanced patient autonomy be achieved [ 68 ] at scale during time-poor non-genetic HCP consultations and with limited genetic counsellor resources? How can an acceptable balance be achieved?…”