Survivorship

CDKN2A/p16 Testing and Adherence to Melanoma Prevention Behaviors

This proof of principle pilot study compares a strategy of offering CDKN2A/p16 testing to hereditary melanoma families to a strategy of not offering genetic testing (the current standard at Penn). The principal aim is to compare the effects of offering to current practice of not offering testing on perceived risk of melanoma and actual and intended sun avoidance/protection and self examination behaviors.

Germline mutations in CDKN2A/p16 are associated with a substantially increased risk of melanoma (30-90%) and may explain up to 40% of hereditary melanoma and as high as 5% of all melanoma cases. However, considerable controversy exists about the use of testing because of uncertainty about whether the results influence patient outcomes. Because there are no approved surgical or chemoprevention options, the influence of genetic testing on melanoma risk depends upon its effect on adherence to behavioral prevention recommendations- largely sun avoidance/protection and self-examination. On one hand, genetic testing may increase adherence by identifying high risk individuals within hereditary families. On the other hand, genetic testing might decrease adherence among families who test negative or individuals who test negative for the familial mutation if these individuals are falsely reassured about their melanoma risk. While testing negative for a known familial mutation does lower an individual's predicted risk of developing melanoma (although not to population levels), the inability to find a CDKN2A/p16 mutation in a family has little impact on predicted risk.