Genetic risk assessment amongst Australians with a strong family history of melanoma: uptake and psychological implications

Nadine Kasparian, Bettina Meiser, Phyllis N. Butow, Judy M. Simpson, Graham Mann

Research output: Contribution to journalMeeting abstractpeer-review


PURPOSE: This prospective study is one of the first worldwide to examine uptake and implications of genetic testing for melanoma risk in a sample of highrisk families with identified family-specific mutations. METHODS: Families comprising three or more relatives with a confirmed melanoma diagnosis were ascertained via the Westmead Institute for Cancer Research/University of Sydney centre of the Genetic Epidemiology of Melanoma Study. Eligibility criteria included identification of a family-specific mutation in the CDKN2A gene via the research protocol, and no previous genetic testing for clinical purposes. A series of mailed, self-report questionnaires were used to collect data at: notification of genetic test availability (January 2005), and two weeks and 12 months after receipt of genetic test results (for ‘test takers’), or 12 months after notification (for ‘test decliners’). RESULTS: 121 eligible individuals (48% male) returned baseline questionnaires, yielding a response rate of 72%. At baseline, mean psychological distress scores were relatively low. Factors associated with distress included: having a personal history of melanoma (OR=3.37, p=0.03), perceiving greater family-related consequences of melanoma (OR=2.52, p<0.0001), and displaying a tendency to monitor for risk-relevant information (OR=3.12, p=0.01). As of January 2008, 25 participants had undergone genetic testing, with 75% of those who had received results identified as mutation carriers. Preliminary analyses show that at baseline, test takers reported significantly higher levels of distress compared to decliners (Z=- 2.27, p=0.02). Further, carriers reported significantly reduced depression scores two weeks after receipt of a positive result (Z=-2.25, p=0.02). CONCLUSION: Distress was relatively uncommon in this familial melanoma cohort, even after notification of the presence of a family mutation and receipt of positive genetic test results. RESEARCH IMPLICATIONS: It is pertinent to examine low levels of genetic testing uptake in the context of attitudes toward testing, health-related behaviours, and testing availability. CLINICAL IMPLICATIONS: Given the association between distress and perceived family-related consequences of melanoma, it is imperative that clinicians communicate genetic risk information in ways that relate meaningfully to the illness experiences of both individuals and their families. ACKNOWLEDGEMENT OF FUNDING: N. Kasparian is supported by an NH&MRC Clinical Research Australia Fellowship. This project is also supported by a Cancer Council NSW Strategic Research Partnership Grant and a Cancer Institute NSW Program Grant for Excellence in Translational Research.
Original languageEnglish
Article numberP2-109
Pages (from-to)S277-S278
Number of pages2
Issue numberSupplement S2
Publication statusPublished - Jun 2008
Externally publishedYes
EventInternational Psycho-Oncology Society (IPOS) 10th World Congress of Psycho-Oncology: IPOS - Madrid, Spain
Duration: 9 Jun 200813 Jun 2008


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