Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families

Nadine A. Kasparian*, Bettina Meiser, Phyllis N. Butow, Judy M. Simpson, Graham J. Mann

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

76 Citations (Scopus)


PURPOSE: The aim of this prospective cohort study was to examine uptake and psychological, behavioral, and cognitive outcomes of genetic testing for melanoma risk among individuals with a known family-specific CDKN2A mutation. METHODS: A total of 119 individuals were ascertained via a genetic epidemiological study and completed a series of mailed, self-administered questionnaires at multiple time points, including notification of genetic test availability, and 2 weeks and 12 months after receipt of genetic test results (for "test participants"), or 12 months after notification (for "decliners"). RESULTS: Since January 2005, 21% of participants (n = 25) have undergone genetic testing, with 75% of those who have received results identified as mutation carriers (n = 15). Factors associated with uptake of genetic counseling included perceived susceptibility to melanoma (odds ratio = 3.60, P = 0.0008), and fatalistic beliefs about melanoma (odds ratio = 0.57, P = 0.005). Compared with baseline, carriers reported significantly reduced anxiety scores at 2 weeks, and reduced depression scores at 2 weeks and 12 months, after receipt of genetic test results. Carriers also reported a significantly greater frequency of clinical skin examination at 12-month follow-up compared with decliners (chi2 = 5.70, P = 0.02). No hypothesis testing was carried out for noncarriers because of their limited number. CONCLUSION: These data provide preliminary evidence for healthy psychological, behavioral, and cognitive adjustment after participation in genetic testing for melanoma risk.

Original languageEnglish
Pages (from-to)265-278
Number of pages14
JournalGenetics in medicine : official journal of the American College of Medical Genetics
Issue number4
Publication statusPublished - Apr 2009
Externally publishedYes


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