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

• Published in: European journal of cancer (1990) 2012-11, Vol.48 (16), p.3052-3062
• Main Authors: Bränström, Richard, Kasparian, Nadine A, Affleck, Paul, Tibben, Aad, Chang, Yu-mei, Azizi, Esther, Baron-Epel, Orna, Bergman, Wilma, Chan, May, Davies, John, Ingvar, Christian, Kanetsky, Peter A, Leeuwen, Evert van, Olsson, Håkan, Gruis, Nelleke A, Brandberg, Yvonne, Newton-Bishop, Julia
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; Australia; Biological and medical sciences; Cancer and Oncology; Cancer och onkologi; Chi-Square Distribution; Clinical Medicine; Europe; Family - psychology; Female; Genetic Counseling - psychology; Genetic Predisposition to Disease; Genetic Privacy - psychology; Genetic Research; Genetic risk; Genetic Testing; Health Knowledge, Attitudes, Practice; Hematology, Oncology and Palliative Medicine; Humans; Information Dissemination; Israel; Kirurgi; Klinisk medicin; Logistic Models; Male; Medical and Health Sciences; Medical sciences; Medicin och hälsovetenskap; Melanoma; Melanoma - diagnosis; Melanoma - genetics; Melanoma - psychology; Middle Aged; Multivariate Analysis; Mutation; Odds Ratio; Pedigree; Perception; Pharmacology. Drug treatments; Phenotype; Risk Assessment; Risk Factors; Risk perception; Skin Neoplasms - diagnosis; Skin Neoplasms - genetics; Skin Neoplasms - psychology; Sun protection; Surgery; Surveys and Questionnaires; Tumors; United States; Young Adult
• ISSN: 0959-8049; 1879-0852; 1879-0852
• DOI: 10.1016/j.ejca.2012.05.017

Abstract 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.