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Psychosocial Issues in Familial Melanoma

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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.[6,7] Despite these cautions, CDKN2A testing is commercially available, and thus demand for the test will likely increase.[8] 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.[9] (Refer to the Melanoma Risk Assessment section of this summary for more information about clinical genetic testing for melanoma susceptibility.)

A few small studies have examined distress and behavioral factors associated with CDKN2A testing for melanoma. In a Swedish clinic for individuals at high risk of melanoma resulting from dysplastic nevus syndrome, 11 unaffected, untested individuals drawn from families in which a CDKN2A mutation has been identified were examined. Most (9 of 11) reported no worry about increased melanoma risk. In assessments after disclosure of results, there were no increasing trends towards depression, anxiety, or increased melanoma-risk perception by test results, and no systematic change in sun-related habits by test results.[10]

A prospective study examined interest in and 3-month behavioral and psychosocial outcomes associated with disclosure of melanoma high-risk mutation research results in 19 individuals (three CDKN2A carriers).[11] All of the mutation carriers, but only four of the noncarriers, had a family history of melanoma. Carrier status did not affect risk perception, distress, or sun-protection behaviors.

Another study examined behavioral factors associated with CDKN2A carrier status among 64 individuals from two large Utah families in which a CDKN2A mutation had been identified. The individuals received extensive recommendations for sun protection and screening. Questionnaires conducted one month after receipt of genetic test results and recommendations showed increased intention for skin examinations (self-examinations and health care professional examinations), regardless of whether individuals were found to be CDKN2A carriers or noncarriers. Rates of over screening (>1 skin self-examination per month) also increased in CDKN2A carriers.[12] In a follow-up study one month later with the same sample, CDKN2A carriers showed marginally increased intentions for sun-protective behaviors; CDKN2A noncarriers showed no increase in overall photoprotection but a shift to using sun-protective clothing rather than sun avoidance.[13]

In Australia, 121 individuals with a strong family history of melanoma completed questionnaires prior to genetic counseling and testing.[2] Distress (melanoma-specific distress and general distress) levels were very low in this population. The most important predictors of distress included the following:

  • A prior personal history of melanoma.
  • The belief that there were family risk implications of getting melanoma (including concerns about their children developing melanoma in the future and the perceived impact of having a family history of melanoma on their lives in general).
  • A preference for receiving highly detailed health information (monitoring style).
  • Perceived importance of sun exposure in causing melanoma.
  • Not having children.
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