alexa CDKN2A p16 genetic test reporting improves early detection intentions and practices in high-risk melanoma families.
Genetics & Molecular Biology

Genetics & Molecular Biology

Hereditary Genetics: Current Research

Author(s): Aspinwall LG, Leaf SL, Dola ER, Kohlmann W, Leachman SA

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Abstract 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. This article was published in Cancer Epidemiol Biomarkers Prev and referenced in Hereditary Genetics: Current Research

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