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Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Psychosocial Issues in Familial Melanoma

This section reviews the literature examining risk reduction and early-detection behaviors in individuals with heightened risk of melanoma resulting from their family history of the disease and in individuals from hereditary families who have been tested for melanoma high-risk mutation status. The review also addresses risk perception and communication in individuals at heightened risk of melanoma.

Motivation and Interest in Genetic Testing for Risk of Melanoma

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Melanoma, Malignant

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Few studies have examined motivation and interest in genetic testing for melanoma risk. In summary, the findings include the following:

  • High, but not universal interest in genetic testing.[1,2,3]
  • Articulated benefits of testing among those at heightened risk.[1,2,4]
  • A relative lack of examination of potential limitations of testing or reasons to forgo testing.[1,2,3]

In Australia, a qualitative study (N = 40) found that almost all participants with a strong family history of melanoma were interested in genetic testing.[2,5] Genetic testing was favored by the participants as a means to gain information about their children's susceptibility to melanoma, to increase their understanding of their own risk, to advance melanoma research, and to provide increased motivation for sun-protective behavior.

A Dutch study examined interest in CDKN2A testing (p16-Leiden mutation). Of 510 letters sent to members of 18 p16-Leiden-positive families recruited from the Pigmented Lesions Clinic at the Leiden University Medical Center in the Netherlands, 488 individuals responded by attending clinic for physical examination; an additional 15 family members also accompanied these individuals. Of these, 403 individuals were eligible for genetic counseling. A total of 184 family members followed through with counseling, and 141 of them opted for genetic testing. After the counseling session, 94 individuals returned a completed questionnaire. Older age predicted higher interest in genetic testing; reasons for having genetic testing included learning personal risk (57%) and learning the risk of one's child carrying the mutation (69%). Most participants (88%) felt that genetic testing would make a contribution to diagnostics within their family. However, some individuals (40%) reported that they had not expected to receive risk information concerning pancreatic cancer, and half of the participants (49%) reported increased worry about the possibility of developing pancreatic cancer.[3] Finally, in an Arizona qualitative study of 22 individuals with a strong family history of melanoma, none elected genetic testing even though it was provided as an option for them.[4]

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