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

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


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Australia / epidemiology
  • Cohort Studies
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • Family Health
  • Female
  • Genetic Counseling / methods*
  • Genetic Testing
  • Heterozygote
  • Humans
  • Logistic Models
  • Male
  • Melanoma / epidemiology
  • Melanoma / genetics*
  • Melanoma / psychology
  • Middle Aged
  • Mutation
  • Prospective Studies
  • Risk Factors
  • Social Class
  • Surveys and Questionnaires*
  • Young Adult


  • Cyclin-Dependent Kinase Inhibitor p16