This section reviews the literature examining risk reduction and early-detection behaviors in individuals with heightened risk for 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 for melanoma.
Motivation and Interest in Genetic Testing for Risk of Melanoma
Clinical validity refers to the predictive value of a test for a given clinical outcome (e.g., the likelihood that cancer will develop in someone with a positive test). It is primarily determined by the sensitivity and specificity with which a test identifies people with a defined clinical condition within a given population. Sensitivity of a test refers to the proportion of people who test positive for a clinical condition among those who actually have the clinical condition; specificity refers...
Few studies have examined motivation and interest in genetic testing for melanoma risk. In general, the findings include the following:
High, but not universal interest in genetic testing.
Articulated benefits of testing among those at heightened risk.
A relative lack of examination of potential limitations of testing or reasons to forgo testing.
In Australia, a qualitative study (n = 40) found that almost all participants with a strong family history of melanoma were interested in genetic testing.[1,2] Genetic testing was favored by the participants for the following reasons:
Gaining information about their children's susceptibility to melanoma.
Having a greater understanding of their own risk.
Having a desire to advance melanoma research.
Having hope that tailored information would increase their motivation for sun-protective behavior.
Perceiving that melanoma is severe.
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. 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.
Individuals Who Have Undergone Genetic Testing for Melanoma Susceptibility
Currently, clinical testing for CDKN2A is not recommended outside the research context because most individuals from multiple-case families will not be identified as having a mutation in this gene, and because recommendations for those testing positive do not differ for multiple-case family members who test negative, or do not pursue testing.[5,6] Despite these cautions, CDKN2A testing is commercially available, and thus demand for the test will likely increase. Arguments for the availability of genetic testing include that the results of testing could provide psychological security and contribute to enhanced screening and prevention efforts for those testing positive for CDKN2A. (Refer to the section on Melanoma Risk Assessment for more information regarding clinical genetic testing for melanoma susceptibility.)