Samantha L. Leaf

CDKN2A/p16 Genetic Test Reporting Improves Early Detection Intentions and Practices in High-Risk Melanoma Families

Genetic testing for melanoma has yet to enter routine clinical use because of the scarcity of available data on the effect of test reporting. A prospective study of 59 members of Utah CDKN2A/p16 mutation–positive pedigrees was conducted to establish the effect of CDKN2A/p16 genetic test reporting on melanoma early detection intentions and behaviors (total body skin examination and skin self-examination) in a high-risk population. Behavioral assessments were made at baseline, immediately after CDKN2A/p16 test reporting and counseling, and at 1-month follow-up (42 participants). Baseline screening practices were poor relative to current recommendations, especially among participants without a personal history of melanoma. Changes from baseline practice were evaluated in three groups of participants (CDKN2A/p16+ with history of melanoma, CDKN2A/p16+ without melanoma history, and CDKN2A/p16−). Across multiple measures, test reporting caused CDKN2A/p16 mutation carriers without a melanoma history to improve to the level of adherence reported by participants with a melanoma history, without decreasing compliance of the CDKN2A/p16− group. Compared with baseline, CDKN2A/p16+ participants without a melanoma history reported greater intention to obtain total body skin examinations (P < 0.0001), increased intentions and adherence to skin self-examination recommendations (P < 0.01 and P < 0.001, respectively), and increased number of body sites examined at 1 month (P < 0.002); further, 55% reported adopting a new screening behavior at follow-up. Test reporting also improved skin self-examination adherence among CDKN2A/p16− participants (P < 0.03). The finding that CDKN2A/p16 test reporting enhances compliance with early detection measures among CDKN2A/p16+ participants without diminishing the compliance of CDKN2A/p16− participants suggests a favorable risk-benefit ratio for melanoma genetic testing in high-risk patients. (Cancer Epidemiol Biomarkers Prev 2008;17(6):1510–9)

Patterns of photoprotection following CDKN2A/p16 genetic test reporting and counseling

BACKGROUND The impact of melanoma genetic testing and counseling on photoprotective behaviors is unknown. OBJECTIVE To determine if genetic testing and counseling alter compliance with photoprotection recommendations. METHODS Reported use of sunscreen, protective clothing, and sun avoidance by 59 members of CDKN2A/p16-mutation positive pedigrees was assessed as a function of mutation status and melanoma history, before, immediately after, and 1 month following test reporting. RESULTS Intentions to practice all photoprotective behaviors increased in all participant groups (P < .0001). At 1 month, 33% of participants reported the adoption of a new photoprotective behavior. Subpopulation analyses identified different patterns of change in photoprotection relative to baseline (P < .005), with no net decline in any group. LIMITATIONS This initial study of CDKN2A/p16 families is small and awaits replication in a larger sample. CONCLUSION Melanoma genetic testing and counseling enhanced intentions to implement photoprotective strategies and did not result in reduced compliance in the CDKN2A/p16-subpopulation.

Genetic testing for hereditary melanoma and pancreatic cancer: A longitudinal study of psychological outcome

CDKN2A/p16 mutations confer 76% lifetime risk of melanoma and up to 17% lifetime risk of pancreatic cancer. Our objective was to determine the short‐ and long‐term impact of CDKN2A/p16 genetic counseling and test reporting on psychological distress, cancer worry, and perceived costs and benefits of testing.

Unaffected family members report improvements in daily routine sun-protection 2 years following melanoma genetic testing

Purpose:Reducing ultraviolet radiation exposure may decrease melanoma risk in the hereditary melanoma setting. It is unknown whether genetic counseling and test reporting of CDKN2A/p16 mutation status promote long-term compliance with photoprotection recommendations, especially in unaffected mutation carriers.Methods:This study evaluated changes 2 years following melanoma genetic testing in self-reported practice of sun protection (sunscreen, photoprotective clothing, and ultraviolet radiation avoidance) among 37 members of two CDKN2A/p16 kindreds (10 unaffected carriers, 11 affected carriers, and 16 unaffected noncarriers; response rate = 64.9% of eligible participants).Results:Multivariate profile analysis indicated that all three participant groups reported increased daily routine practice of sun protection 2 years following melanoma genetic testing (P < 0.02), with 96.9% reporting that at least one sun protection behavior was part of their daily routine, up from 78.1% at baseline (P < 0.015). Unaffected carriers (P < 0.024) and unaffected noncarriers (P < 0.027) reported significantly more frequent use of photoprotective clothing. Affected carriers maintained adherence to all sun protection behaviors. Reported sunburns in the past 6 months decreased significantly (P < 0.018).Conclusion:Members of high-risk families reported increased daily routine sun protection and decreased sunburns 2 years following melanoma genetic testing, with no net decline in sun protection following negative test results. Thus, genetic testing and counseling may motivate sustained improvements in prevention behaviors.Genet Med 16 11, 846–853.

Meaning and agency in the context of genetic testing for familial cancer

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