Perceptions of genetic research and testing among members of families with an increased risk of malignant melanoma

Richard Bränström, Nadine A. Kasparian, Paul Affleck, Aad Tibben, Yu Mei Chang, Esther Azizi, Orna Baron-Epel, Wilma Bergman, May Chan, John Davies, Christian Ingvar, Peter A. Kanetsky, Evert Van Leeuwen, Håkan Olsson, Nelleke A. Gruis, Yvonne Brandberg, Julia Newton-Bishop

Research output: Contribution to journalArticlepeer-review


Background: Several melanoma susceptibility genes have been identified. As part of the international genetic research programme of the GenoMEL consortiums research on genetic mutations in melanoma families, the aim of this study was to examine family members' views about their risk of melanoma, gene testing and genetic research. Methods: Self-report data were gathered using online and paper-based surveys available in four languages among 312 individuals (62% from Europe, 18% from Australia, 13% from the United States of America (USA) and 7% from Israel). Results: Fifty three percent had been diagnosed with a melanoma, and 12% had a positive susceptibility gene test result. Respondents with many moles and freckles were more likely to perceive themselves at risk for developing melanoma (odds ratio [OR]Freckles = 2.24 with 95% confidence interval [CI] = 1.18-4.26; ORMany moles = 6.92, 95% CI = 2.37-20.23). Respondents who had received a non-informative (negative) genetic test result were much less likely to perceive themselves at increased risk (OR = 0.17, 95% CI = 0.04-0.73). Safe-guards were perceived as important to protect genetic information, but there was also support for the storage and exchange of such information. Overall, respondents were in favour of genetic testing, even if current knowledge about melanoma risk genes is still limited. Contrary to previous studies, participants reported that a non-informative (negative) genetic test result, although not necessarily indicative of lower risk of melanoma, would be likely to reduce their practise of preventive behaviours. Conclusions: Participants were influenced by their phenotype and test results in risk estimations. They expressed positive views on genetic research and towards genetic testing, but reported that a non-informative (negative) test result might be associated with an (erroneous) perception of reduced risk and fewer preventive behaviours. These results highlight the urgency of improving the quality of genetic counselling and increasing the effectiveness of communication regarding genetic test results.

Original languageEnglish
Pages (from-to)3052-3062
Number of pages11
JournalEuropean Journal of Cancer
Issue number16
StatePublished - Nov 2012

Bibliographical note

Funding Information:
New Knowledge Directorate Ltd. designed and implemented the web interface and supporting database. The study was funded by the European Commission under the 6th Framework Programme, Contract Nr: LSHC-CT-2006-018702 . Richard Bränström is funded by research Grants from the Swedish Council for Working Life and Social Research (Nr: 2006-1264 and 2006-0069 ) and Center for Health Care Science at the Karolinska Institutet , Sweden (Nr: 2008-4737 ). Nadine Kasparian is supported by a Post-Doctoral Clinical Research Fellowship from the National Health and Medical Research Council of Australia (NH&MRC, ID 510399 ), and an Early Career Researcher Fellowship Enhancement from the Faculty of Medicine, University of New South Wales. Julia Newton Bishop is funded by Cancer Research UK Programme Grant C588/A4994 . We would also like to thank the following people who have made a significant contribution to the completion of this study; Karolinska Institutet: Katja Brandberg, Ryan Locke; University of Leeds: Faye Elliott; Leiden University Medical Centre: Clasine van der Drift, Frans A. van Nieuwpoort, Coby Out, Femke de Snoo; University of Pennsylvania: Patricia Van Belle, David Elder, Jillian Knorr, Althea Ruffin.


  • Genetic research
  • Genetic risk
  • Genetic testing
  • Melanoma
  • Risk perception
  • Sun protection

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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