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

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 À ). 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 À 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 selfexamination adherence among CDKN2A/p16À 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 À participants suggests a favorable risk-benefit ratio for melanoma genetic testing in high-risk patients. (Cancer Epidemiol Biomarkers Prev 2008;17(6):1510 -9)

Genetic Counseling and Testing for Hereditary Melanoma: An Updated Guide for Dermatologists

“…Furthermore, this research study concluded that test reporting did not decrease the level of adherence for those who tested negative for the CDKN2A/p16 mutation previously identified in their family. The participants in this study had a family history of melanoma, and these results suggest a positive impact of genetic test reporting and counseling on patient behavior beyond what was motivated based on family history and independent of the test result itself [30]. Additional analysis of this sample population also found that the degree of photoprotection increased among both those who tested positive and negative for a CDKN2A/p16 mutation.…”

“…However, the currently available data do not support these concerns. A research study performed by Aspinwall, et al in 2008 to assess the clinical utility of CDKN2A/ p16 genetic testing showed how test result reporting led to significant positive changes in the intention and magnitude of intention to screen between baseline, immediately following results disclosure, and one month post-reporting amongst high risk patients. Furthermore, this research study concluded that test reporting did not decrease the level of adherence for those who tested negative for the CDKN2A/p16 mutation previously identified in their family.…”

Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque

“…Selon une enquête menée en 2002 auprès de dermatologues hospitaliers français, la connaissance du statut « muté » motive les familles pour la prévention solaire et la surveillance. Le bénéfice du test génétique est confirmé par des études menées en Suède [5], en Hollande [6,7] et aux États-Unis, celles-ci ayant de plus montré qu'il n'y avait pas d'impact sur la motivation des patients non-porteurs de mutation [8][9][10]. En Australie [11][12][13] et en Suède [14], les tests génétiques sont plutôt bien acceptés et n'induisent pas de souffrance psychologique notable.…”

Behavioral Oncology and the War on Cancer: Partnering with Biomedicine

“…These studies have suggested that genetic testing results in more appropriate screening and surveillance practices after disclosure (46)(47)(48)(49). That is, carriers increase their use of screening and noncarriers reduce their frequency of engagement in screening to fall into line with recommendations.…”