Poster Presentation NSW State Cancer Conference 2023

How do cancer survivors respond to receiving non-actionable germline genomic sequencing results? A qualitative insight.  (#253)

Clara Goossens 1 , Phyllis Butow 1 , Mandy Ballinger 2 , Ellie Carpenter 2 , Nicci Bartley 1 , Ilona Juraskova 1
  1. School of Psychology, The University of Sydney, Camperdown, New South Wales, Australia
  2. Garvan Institute of Medical Research , Darlinghurst, NSW, Australia

Germline Genomic Sequencing (GGS) is a relatively new form of genomic testing which can be used to detect heritable pathogenic variants in the genome (i.e., inherited DNA code). GGS is complex, has a long wait time, and can yield many different results. Therefore, while it can be very useful, users can also experience uncertainty and possibly distress related to their results. The use of GGS is growing, especially in the serious disease settings with unknown aetiologies, such as cancer. Yet, research on responses of cancer patients to receiving GGS results is limited, as until now investigations have mostly focused on single-gene testing, genomic testing in the general population, or on less complex forms of genomic sequencing. This novel qualitative study aimed to explore the experiences of individuals with a history of cancer who have received GGS results, as part of a longitudinal parent genomic research study (RiSC). Telephone semi-structured interviews were conducted with 11 RiSC participants, asking about their psychological and behavioural responses to obtaining GGS results, and associated communication with family and health professionals. To characterise the sample, participants completed a validated set of questionnaires assessing tolerance of uncertainty, self-efficacy, threat appraisal and distress. Interviews were transcribed and subjected to thematic analysis. Thematic analysis of transcribed interviews identified three main themes: (1) Nothing Has Changed; (2) Everlasting Hope; and (3) Knowledge is Power. Participants reported coping well with their result, being motivated by curiosity and altruistic drives. While some participants reported disappointment immediately when they received the results, emotional responses dissipated over time and appeared secondary to cognitive responses. Participants’ behaviour changes seemed limited, as non-actionable results did not indicate any need for additional changes. Participants communicated their results to family members if they perceived them as meaningful, and to health professionals if they needed clarification. Suggestions on further improving the experience of receiving results are reported, as well as recommendations on how these suggestions can be implemented for future recipients of GGS results.