Psychosocial Issues in Familial Melanoma

Motivation and Interest in Genetic Testing for Risk of Melanoma
        Testing in children
Individuals Who Have Undergone Genetic Testing for Melanoma Susceptibility
Risk Awareness, Risk Reduction, and Early Detection Behaviors in Individuals at Heightened Genetic Risk of 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.

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.[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]

Among 61 people tested for CDKN2A mutations (52.5% tested positive) from two large melanoma kindreds, most (75.4%) had children or grandchildren younger than 18 years and expressed interest in testing of minors (73.8%).[5] Among CDKN2A mutation carriers, most (86.7%) wanted their children or grandchildren to be tested, and among noncarriers, half (50%) wanted testing for their own children or grandchildren. The most cited reason for testing children was to aid in risk awareness and to improve protection and screening behavior.

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.

A number of studies have been conducted examining risk reduction via adoption of sun protection (including the use of sunscreen and protective clothing and shade seeking) and early-detection behaviors (including health care provider screening and skin self-examination) in individuals with a family history of melanoma. Overall, these studies indicate inconsistent adoption and maintenance of these behaviors. Most of these studies have been conducted with clinic-based populations that might be more prone to risk reduction and screening behaviors than those with a similar risk profile in the general population.

In terms of sun protection, in a Swedish population, 87 young adults with dysplastic nevi were surveyed, and 70% estimated their melanoma risk to be equal or lower than that of the Swedish population in general, and one third reported frequent sunbathing behavior.[14] Another study examined 229 first-degree relatives (FDRs) referred by melanoma patients attending clinic appointments; those who were older, female, and had greater confidence in their ability to practice sun-protection were most likely to do so, but the utilization of sun-protective behavior was inconsistent.[15] Another study in the United States examined sun-protective behavior in 100 FDRs of melanoma clinic patients and found that less than one-third of patients use sunscreen routinely when in the sun and that more regular usage was related to higher education levels, higher self-efficacy for sun protection, and higher perceived melanoma risk. Perceived severity of melanoma and response-efficacy were not related to adoption of sun-protective behaviors.[16]

Another study based in the United Kingdom examined sunburn rates in 170 individuals with a family history of melanoma compared with 140 controls matched to age, sex, and geographical location. Of those with a melanoma family history, 31% reported sunburn in the previous summer (compared with 41% of controls); melanoma families reported better sun-protection behaviors than controls overall. Across controls and those with a family history of melanoma, younger males were more likely to report recent sunburns; also, across controls and those with a family history of melanoma, those relatives with atypical mole syndrome and a belief in their ability to prevent melanoma showed better sun protection.[17]

One qualitative study of 20 FDRs of melanoma patients recruited from a high-risk clinic at the University of Arizona identified perceived unmet needs for physician communication of risk status, including greater consistency in communication, education for patients concerning the importance of family history to risk status, and needs and desire for more complex advice (e.g., reapplication of sunscreen and wearing clothing with ultraviolet protection factor).[18]

There are also a number of studies that have examined early-detection behaviors in individuals at increased risk of melanoma. In a U.S. sample of 404 siblings drawn from a clinic population of melanoma patients, only 42% of individuals had ever seen a dermatologist; 62% had engaged in skin self-examination; 27% had received a physician skin examination; and only 54% routinely used sunscreen. Female gender was related to greater sunscreen use; those older than age 50 were more likely to have received a physician skin examination. Having a dermatologist was strongly related to all three outcomes (skin self-examination, physician examination, and sunscreen use).[19] In a U.S. study of 229 FDRs referred by patients attending clinic, about half (55%) reported ever having a total cutaneous examination, and slightly more (71%) reported ever performing skin self-examination. Common predictors of skin examination (physician and self-examinations) included physician recommendation and low perceived barriers of screening.[15] Interestingly, 14% of the sample had not told their primary care doctor about their sibling’s melanoma diagnosis. One U.S. study showed that half (53%) of FDRs had never received a total cutaneous screening by a physician; only 27% had received a physician recommendation to have a screening. Early detection adherence was related to the following: higher education level, more melanoma risk factors, health care provider recommendation for screening, perceived risk of melanoma, and perceived severity of melanoma. Interestingly, parents of melanoma patients were less likely to have pursued screening than siblings and children.[20]

A cross-sectional Australian study of 120 individuals from families with a known CDKN2A mutation found that in the past 12 months, 50% reported engaging in skin self-examinations at least four times, and 43% had undergone at least one clinical skin examination. In contrast, 15% had not performed a skin self-examination in the past 12 months, and 27% had never had a clinical skin examination. Correlates of skin cancer screening behaviors included having a prior history of melanoma, a physician’s recommendation, and stronger behavioral intentions. Additional correlates for skin self-examination included self-efficacy, perceived efficacy of melanoma treatment, and melanoma-specific distress. Perceived risk of developing melanoma was not significantly associated with skin cancer screening behaviors.[21]

There have been a few intervention studies targeting sun protection and screening in family members of melanoma patients. In one study among siblings, participants drawn from a clinic population were randomly assigned to an intervention that included telephone messages and tailored print materials about risk reduction and screening recommendations. The usual care condition received standard physician-practice recommendation that patients notify family members about their diagnosis. The intervention group showed improvements in knowledge about melanoma, confidence in seeing a dermatologist and having a screening examination, and greater improvements in skin self-examination practices compared with control participants after 12 months; both groups showed twofold increases in physician examinations after 12 months; there was no change in sunscreen behaviors in either group.[22]

In another study, 443 family members of melanoma patients were randomly assigned to either a generic or tailored intervention that consisted of three (untailored or tailored) print mailings and one (untailored or tailored) telephone counseling session. Overall, the tailored intervention showed an almost twofold increase in frequency of total cutaneous skin examinations by a health care provider compared to the generic intervention. However, no differences were observed for skin self-examinations between intervention arms. In contrast to the previous study, which did not show improvements in sun protection habits,[22] participants in this study who received the tailored intervention were significantly more likely to report improvements in sun protection habits than were those who received the generic intervention.[23]

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