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

• Published in: Cancer epidemiology, biomarkers & prevention biomarkers & prevention, 2008-06, Vol.17 (6), p.1510-1519
• Main Authors: ASPINWALL, Lisa G, LEAF, Samantha L, DOLA, Erin R, KOHLMANN, Wendy, LEACHMAN, Sancy A
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; Biological and medical sciences; CDKN2A/p16; Cyclin-Dependent Kinase Inhibitor p16 - genetics; Dermatology; early detection; familial melanoma; Female; Genetic Counseling; Genetic Testing - methods; Humans; Male; Medical sciences; Melanoma - genetics; Middle Aged; Prospective Studies; Skin Neoplasms - genetics; skin self-examinations; Tumors; Tumors of the skin and soft tissue. Premalignant lesions
• ISSN: 1055-9965; 1538-7755
• DOI: 10.1158/1055-9965.EPI-08-0010

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)