Increasing availability of panel testing for known high penetrance familial melanoma genes has made it possible to improve risk awareness in those at greatest risk. Prior to wider implementation, it is useful to explore the emotional and cognitive responses in families affected by hereditary melanoma risk, and what impact genetic testing may have.
A total of 20 participants were recruited from a larger study, where genetic testing for familial melanoma was offered. Participants were interviewed 1-month after test results were reported to explore the emotional and behavioural response to living with familial melanoma, and the impact genetic testing had had on day-to-day lives. Interviews were conducted by phone, audiotaped, transcribed verbatim, and thematically analysed.
Through qualitative analysis, three core themes were identified including: ‘living with familial melanoma’, ‘the testing process’, and ‘impact of testing’. Under the first theme, majority of participants were found to be accepting, but mindful of their personal risk and the potential severity of melanoma, without reporting overall distress. Participants were very proactive in maintaining protective behaviour and frequently encouraged family members to do the same. The ‘testing process’ theme revealed that participant’s decision to have genetic testing was strongly driven by their desire to advance research in the hope to benefit their own offspring. Participant described potential benefits of testing relating to motivating preventative behaviour and understanding their familial risk better. No personal limitations were reported, however participants anticipated that testing might be too upsetting for some individuals, or could negative results may provide false reassurance. The theme ‘impact of testing’ found that genetic testing for familial melanoma can be provided without causing distress, and for most provides a sense or relief and increase of risk awareness. Protective sun behaviour remained vigilant after genetic testing, regardless of test results received.