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Genet Med. 2009 Apr;11(4):265-78. doi: 10.1097/GIM.0b013e3181993175.

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

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School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Kensington, New South Wales, Australia.



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.


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").


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.


These data provide preliminary evidence for healthy psychological, behavioral, and cognitive adjustment after participation in genetic testing for melanoma risk.

[Indexed for MEDLINE]

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