Family members' perceptions of genetic testing for malignant melanoma – A prospective interview study

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Abstract

Purpose

The aim was to prospectively explore experiences related to genetic testing for malignant melanoma among unaffected previously untested members of melanoma-prone families in which germline CDKN2A mutations had been identified.

Method

Consecutive members of families with CDKN2A mutation attending a pigmented lesion clinic (n = 11) were interviewed and completed questionnaires at four occasions: before genetic testing, at disclosure of genetic test result and six months and one year after disclosure. The following areas were measured: anxiety and depression, risk perception, and sun-related habits.

Results

Disclosure of the test result did not seem to change family members' perception of their risk of developing melanoma. Few members reported anxiety of clinical significance and no one were depressed. All family members with biological children expressed concerns regarding their children and emphasized the importance of sun protection and surveillance. Sun burns and blisters were rather commonly reported by the family members. Routines regarding the procedure for conveying test result were requested.

Conclusion

Genetic testing of the members of melanoma families with CDKN2A mutations attending a pigmented lesion clinic did not appear to induce behavioral changes related to sun habits or emotional problems. Concerns about the future of their children were commonly expressed by participants.

Introduction

The relationship between familial aggregation of dysplastic nevi (DN), cutaneous malignant melanoma and a high risk for developing malignant melanoma was revealed in the late seventies (Clark et al., 1978, Lynch et al. 1978). In 1987, the Swedish Melanoma Study Group initiated a program aiming at primary and secondary prevention of cutaneous malignant melanoma in families with hereditary cutaneous malignant melanoma (HCMM) and dysplastic nevus syndrome (DNS). In this ongoing program, HCMM is defined as two or more biological relatives diagnosed with cutaneous malignant melanoma. If, in addition to HCMM two or more family members have dysplastic nevi (DN) the definition of DNS is met (Greene et al., 1985). The purposes of the prevention program are to identify individuals with HCMM and/or DNS and to reduce the risk of malignant melanoma by regular skin examinations and to provide them with information regarding sun protection and skin self-examination (Hansson et al., 2007). Intense surveillance is recommended for family members in order to detect and excise DN before they develop into malignant melanoma and to excise and diagnose malignant melanomas at an early stage (Kefford et al., 1999, Masri et al., 1990).

Description of the molecular basis of hereditary predisposition for melanoma has made progress over the last decade. Genetic analyses have revealed the presence of germline CDKN2A (cyclin-dependent kinase inhibitor 2A) alterations in melanoma families (Hussussian et al., 1994, Kamb et al., 1994). In the Swedish population a specific germline CDKN2A founder mutation (p.R112_L113insR) is predominant among families with HCMM. In a Swedish population-based cohort, 8% of family members with at least two first-degree relatives with cutaneous melanoma and DNS carried a CDKN2A mutation (Hashemi et al., 2001, Platz et al., 1997). The penetrance of CDKN2A mutations has been demonstrated to vary with geographical location, sun-exposure and pigmentation and freckling (Bishop et al., 2002, Goldstein et al., 1998, Palmer et al., 2000, van der Velden et al., 2001). The risk of developing a melanoma before the age of 80 years for an individual carrying the CDKN2A mutation had been estimated to 0.58 for families living in Europe (France, Italy, the Netherlands or the United Kingdom) (Bishop et al., 2002). The corresponding figures for individuals carrying the CDKN2A mutation living in the United States were 0.76, and 0.91 for individuals living in Australia. Data from Swedish families were not included in this analysis due to the higher incidence rates of melanoma in Sweden, compared to the other European countries. These variations in risk correspond to the different baseline incidence rates of melanoma in the population suggesting that environmental and behavioral factors may mediate the CDKN2A penetrance (Bishop et al., 2002). Thus, the risk for an individual carrying the CDKN2A mutation is substantially higher compared to the general population. Mutation-carriers in Sweden have a higher risk than that estimated for other European families and probably more comparable to mutation-carriers living in the United States (Bishop et al., 2002).

Little is known about psychological reactions related to genetic testing for melanoma risk. Behavioral intentions to hypothetical genetic testing for melanoma and reasons for non-participation in genetic testing have been studied in high-risk individuals (Kasparian et al., 2006, Kasparian et al., 2007, Riedijk et al., 2005). The present study is, to our knowledge, the first prospective study on high-risk individuals experiences and information needs within the context of genetic testing for melanoma risk.

The aim of the present study was to prospectively explore experiences related to genetic testing for malignant melanoma among members not previously diagnosed with malignant melanoma of families in which CDKN2A mutations had been identified. In addition, perceptions of the information process from the first appointment for information on genetic testing and up to six months were described. Anxiety and depressive symptoms, risk perceptions and sun-related behaviors were also studied.

Section snippets

Materials and methods

The study was designed as a one-group prospective interview study with four points of assessments. Quantitative measures of anxiety, depression, risk perception and sun-related habits were also included.

Results

During the study period (March 1999–September 2001) all 11 unaffected family members (5 women, 6 men) from the six families with the Swedish CDKN2A founder mutation in the catchment area were invited to the DNS-clinic for information on the possibility to undergo genetic testing. All responded to the invitation letter, underwent genetic testing and participated in the present study (100%). At the time of the first interview the mean age of the family members was 36 years (range 24–54). Five of

Discussion

In this prospective study, individuals offered to undergo testing for the CDKN2A mutation were interviewed at four occasions on their experiences related to genetic testing. Although the study is small, it is to our knowledge the first time this process has been prospectively described with respect to CDKN2A-testing. There is a substantial literature on the impact on genetic testing, predominantly about hereditary breast/ovarian cancer, non-polyposis colorectal cancer and familial adenomatous

Conflict of interest statement

None of the authors have any conflicts of interests.

Acknowledgement

This research was supported by the King Gustaf V Jubilee Fund (98:504) and the Swedish Cancer Society (05 0384).

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