Whole genome sequencing (WGS) is moving into clinical practice, with the goals of identifying gene variants that increase individuals’ risk of cancer and guiding prevention strategies. However, little is yet known about the ethical, psychosocial and behavioural implications of WGS. The Genetic Cancer Risk in the Young Study is recruiting 1,000 young cancer patients and blood relatives to undertake WGS to investigate heritable genetic disease drivers. The current psychosocial sub-study (PiGeOn) aims to explore participants’ motivations, understanding, experiences and views about WGS longitudinally. Baseline qualitative results are reported here.
Transcribed, semi-structured interviews of purposively selected PiGeOn participants (to ensure varied cancer types and demographics) were analysed using thematic analysis.
Data saturation was reached with 20 patients (aged 32-78 years). Analysis identified five inter-related major themes: 1) Motivation: seeking empowerment, a sense of responsibility to others, and curiosity; 2) Emotional readiness and response: reducing uncertainty, offering protection, and important to act upon; 3) Balancing individual versus relational autonomy: all recognised their results could have implications for other family members, but family culture influenced the degree of consultation; 4) Balancing benefit versus harm: for some participants there was ongoing decisional conflict regarding whether to receive results; and 5) ‘The black box’: participants often lacked full understanding and desired lay-appropriate explanations; but felt embarrassed to request these. Most trusted the science of WGS.
Young cancer survivors see WGS as an opportunity for the individual, family and wider community to reduce future risk. Most participants considered WGS to be beneficial and found the experience of testing to be positive. Participants had high hopes of actionable results. A cancer diagnosis may motivate patients and family members to be more active in managing their risk, but may need support to promote better understanding and communication within the family about WGS results.