Genetic Test Reporting and Counseling for Melanoma Risk in Minors May Improve Sun Protection Without Inducing Distress
Genetic testing of minors is advised only for conditions in which benefits of early intervention outweigh potential psychological harms. This study investigated whether genetic counseling and test reporting for the CDKN2A/p16 mutation, which confers highly elevated melanoma risk, improved sun protection without inducing distress. Eighteen minors (Mage = 12.4, SD = 1.9) from melanoma-prone families completed measures of protective behavior and distress at baseline, 1 week (distress only), 1 month, and 1 year following test disclosure. Participants and their mothers were individually interviewed on the psychological and behavioral impact of genetic testing 1 month and 1 year post-disclosure. Carriers (n = 9) and noncarriers (n = 9) reported significantly fewer sunburns and a greater proportion reported sun protection adherence between baseline and 1 year post-disclosure; results did not vary by mutation status. Anxiety symptoms remained low post-disclosure, while depressive symptoms and cancer worry decreased. Child and parent interviews corroborated these findings. Mothers indicated that genetic testing was beneficial (100%) because it promoted risk awareness (90.9%) and sun protection (81.8%) without making their children scared (89.9%); several noted their child’s greater independent practice of sun protection (45.4%). In this small initial study, minors undergoing CDKN2A/p16 genetic testing reported behavioral improvements and consistently low distress, suggesting such testing may be safely implemented early in life, allowing greater opportunity for risk-reducing lifestyle changes.
KeywordsCDKN2A/p16 Familial melanoma Genetic counseling Children Prevention Sun protection
This project was supported by a pilot grant from the Cancer Control and Population Sciences Program at the Huntsman Cancer Institute. T.K.S., L.G.A., W.K., M.C., E.S., P.C., and S.A.L. were partially supported during the conduct of the study and/or preparation of the manuscript by the National Cancer Institute (NCI) of the National Institutes of Health (NIH) under Award Number R01 CA158322. During manuscript preparation, T.K.S. was supported by NIH/NCI training grant T32 CA193193. Y.P.W. was supported by the NIH/NCI career development grant K07CA196985 (Y.P.W.) and the Huntsman Cancer Foundation (HCF). P.C. was supported by NIH R01CA166710. Additional support for the study was provided by the National Center for Research Resources and the National Center for Advancing Translational Sciences, NIH, through Grant 8UL1TR000105 (formerly UL1RR025764). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NCI or the NIH. Support was also received from the HCF, the Tom C. Mathews, Jr. Familial Melanoma Research Clinic endowment, the Pedigree and Population Resource of Huntsman Cancer Institute, and the Utah Population Database. This research was supported by the Utah Cancer Registry, which is funded by contract N01-PC-35141 from the National Cancer Institute Surveillance, Epidemiology, and End Results (SEER) Program, with additional support from the Utah State Department of Health and the University of Utah. The authors acknowledge the use of the Genetic Counseling and Health Measurement and Survey Methods core facilities supported by the NIH through NCI Cancer Center Support Grant 5P30CA420-14 awarded to Huntsman Cancer Institute and additional support from the HCF. The authors gratefully acknowledge the generous participation of all the family members in this study, without whom this project would not have been possible. We thank Dixie Thompson, Lisa Reynolds, Tami Calder, Michelle Allred, Teresa Stone, and Matt Haskell for their contributions to the conduct of the study. We thank Maria-Renee Coldagelli for verifying protocol adherence of the genetic counseling sessions. We acknowledge Taylor Haskell, Rebecca Stoffel, Christopher Moss, Roger Edwards, Kayla Denter, Taryn Wicijowski, Hannah Longhurst, and Dexter Thomas for their assistance with recruitment and/or data collection. We also thank Jeffrey Yancey and Meredith Vehar in the patient and public education department of the Huntsman Cancer Institute for assessing the reading level of our questionnaires and revising items as appropriate, and Sandie Edwards for her assistance with questionnaire design.
The work of several authors (Drs. Stump, Aspinwall, Wu, Cassidy, and Leachman) was funded by the NIH. Dr. Leachman served on a Medical and Scientific Advisory Board for Myriad Genetics Laboratory, for which she received an honorarium. She has collaborated with Myriad on a project to validate an assay that is unrelated to the research reported here. Ms. Kohlmann has consulted for Myriad Genetics Laboratory in the past on unrelated projects and received a research grant from Myriad Genetics Laboratory to study the psychological and family communication outcomes of multigene panel testing. That work is unrelated to the research reported here. Ms. Champine has been compensated for serving on the Genetic Counseling Advisory Board for Invitae, which is a for-profit genetic testing laboratory. All other authors report no conflicts of interest.
Compliance with Ethical Standards
Conflict of Interest
Dr. Leachman served on a Medical and Scientific Advisory Board for Myriad Genetics Laboratory, for which she received an honorarium. She has collaborated with Myriad on a project to validate an assay that is unrelated to the research reported here.
Ms. Kohlmann has consulted for Myriad Genetics Laboratory in the past on unrelated projects and received a research grant from Myriad Genetics Laboratory to study the psychological and family communication outcomes of multigene panel testing. That work is unrelated to the research reported here.
Ms. Champine has been compensated for serving on the Genetic Counseling Advisory Board for Invitae, which is a for-profit genetic testing laboratory.
Dr. Stump, Dr., Aspinwall, Ms. Hauglid, Dr. Wu, Ms. Scott, and Dr. Cassidy declare that they have no conflicts of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
- Aspinwall, L. G., Leaf, S. L., Dola, E. R., Kohlmann, W., & Leachman, S. A. (2008). CDKN2A/p16 genetic test reporting improves early detection intentions and practices in high-risk melanoma families. Cancer Epidemiology, Biomarkers & Prevention, 17(6), 1510–1519. https://doi.org/10.1158/1055-9965.EPI-08-0010.CrossRefGoogle Scholar
- Aspinwall, L. G., Stump, T. K., Taber, J. M., Drummond, D., Kohlmann, W., Champine, M., & Leachman, S. A. (2017). Genetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk. Transl Behav Med. (in press).Google Scholar
- Aspinwall, L. G., Taber, J. M., Kohlmann, W., Leaf, S. L., & Leachman, S. A. (2014). Unaffected family members report improvements in daily routine sun protection 2 years following melanoma genetic testing. Genetics in Medicine, 16(11), 846–853. https://doi.org/10.1038/gim.2014.37.CrossRefPubMedPubMedCentralGoogle Scholar
- Aspinwall, L. G., Taber, J. M., Leaf, S. L., Kohlmann, W., & Leachman, S. A. (2013b). Melanoma genetic counseling and test reporting improve screening adherence among unaffected carriers 2 years later. Cancer Epidemiology, Biomarkers & Prevention, 22(10), 1687–1697. https://doi.org/10.1158/1055-9965.EPI-13-0422.CrossRefGoogle Scholar
- Begg, C. B., Orlow, I., Hummer, A. J., Armstrong, B. K., Kricker, A., Marrett, L. D., et al. (2005). Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. Journal of the National Cancer Institute, 97(20), 1507–1515. https://doi.org/10.1093/jnci/dji312.CrossRefPubMedGoogle Scholar
- Bishop, D. T., Demenais, F., Goldstein, A. M., Bergman, W., Bishop, J. N., Bressac-de Paillerets, B., et al. (2002). Geographical variation in the penetrance of CDKN2A mutations for melanoma. Journal of the National Cancer Institute, 94(12), 894–903. https://doi.org/10.1093/jnci/94.12.894.CrossRefPubMedGoogle Scholar
- Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., et al. (2015). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 97(1), 6–21. https://doi.org/10.1016/j.ajhg.2015.05.022.CrossRefPubMedPubMedCentralGoogle Scholar
- Brandi, M. L., Gagel, R. F., Angeli, A., Bilezikian, J. P., Beck-Peccoz, P., Bordi, C., et al. (2001). Guidelines for diagnosis and therapy of MEN type 1 and type 2. The Journal of Clinical Endocrinology and Metabolism, 86(12), 5658–5671. https://doi.org/10.1210/jcem.86.12.8070.CrossRefPubMedGoogle Scholar
- Buller, D. B., Cokkinides, V., Hall, H. I., Hartman, A. M., Saraiya, M., Miller, E., et al. (2011). Prevalence of sunburn, sun protection, and indoor tanning behaviors among Americans: review from national surveys and case studies of 3 states. Journal of the American Academy of Dermatology, 65(5 Suppl 1), S114–S123. https://doi.org/10.1016/j.jaad.2011.05.033.PubMedCrossRefGoogle Scholar
- Burke, W., Daly, M., Garber, J., Botkin, J., Kahn, M. J. E., Lynch, P., et al. (1997). Recommendations for follow-up care of individuals with an inherited predisposition to cancer: II. BRCA1 and BRCA2. JAMA, 277, 997–1003. https://doi.org/10.1001/jama.1997.03540360065034.CrossRefPubMedGoogle Scholar
- Cappelli, M., Verma, S., Korneluk, Y., Hunter, A., Tomiak, E., Allanson, J., et al. (2005). Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer. Clinical Genetics, 67(6), 481–491. https://doi.org/10.1111/j.1399-0004.2005.00456.x.CrossRefPubMedGoogle Scholar
- Cokkinides, V., Weinstock, M., Glanz, K., Albano, J., Ward, E., & Thun, M. (2006). Trends in sunburns, sun protection practices, and attitudes toward sun exposure protection and tanning among US adolescents, 1998–2004. Pediatrics, 118(3), 853–864. https://doi.org/10.1542/peds.2005-3109.CrossRefPubMedGoogle Scholar
- Geller, A. C., Colditz, G., Oliveria, S., Emmons, K., Jorgensen, C., Aweh, G. N., & et al. (2002). Use of sunscreen, sunburning rates, and tanning bed use among more than 10 000 US children and adolescents. Pediatrics, 109(6), 1009–1014.Google Scholar
- Geller, A. C., Swetter, S. M., Brooks, K., Demierre, M. F., & Yaroch, A. L. (2007). Screening, early detection, and trends for melanoma: current status (2000–2006) and future directions. Journal of the American Academy of Dermatology, 57(4), 555–572; quiz 573-556. https://doi.org/10.1016/j.jaad.2007.06.032.CrossRefPubMedGoogle Scholar
- Glanz, K., Yaroch, A. L., Dancel, M., Saraiya, M., Crane, L. A., Buller, D. B., et al. (2008). Measures of sun exposure and sun protection practices for behavioral and epidemiologic research. Archives of Dermatology, 144(2), 217–222. https://doi.org/10.1001/archdermatol.2007.46.CrossRefPubMedGoogle Scholar
- Glenn, B. A., Lin, T., Chang, L. C., Okada, A., Wong, W. K., Glanz, K., et al. (2015). Sun protection practices and sun exposure among children with a parental history of melanoma. Cancer Epidemiology, Biomarkers & Prevention, 24(1), 169–177. https://doi.org/10.1158/1055-9965.EPI-14-0650.CrossRefGoogle Scholar
- Haluza, D., Simic, S., Holtge, J., Cervinka, R., & Moshammer, H. (2016). Gender aspects of recreational sun-protective behavior: results of a representative, population-based survey among Austrian residents. Photodermatology, Photoimmunology & Photomedicine, 32(1), 11–21. https://doi.org/10.1111/phpp.12213.CrossRefGoogle Scholar
- Kasparian, N. A., Meiser, B., Butow, P. N., Simpson, J. M., & Mann, G. J. (2009). Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families. Genetics in Medicine, 11(4), 265–278. https://doi.org/10.1097/GIM.0b013e3181993175.CrossRefPubMedGoogle Scholar
- Kovacs, M. (2010). Children’s Depression Inventory 2™(CDI 2). North Tonawanda, NY: Multi-Health Systems.Google Scholar
- Spielberger, C., & Edwards, C. (1973). Preliminary test manual for the State-trait Anxiety Inventory for Children: (“How-I-feel questionnaire”). Palo Alto, CA: Consulting Psychologists Press.Google Scholar
- Taber, J. M., Aspinwall, L. G., Stump, T. K., Kohlmann, W., Champine, M., & Leachman, S. A. (2015). Genetic test reporting enhances understanding of risk information and acceptance of prevention recommendations compared to family history-based counseling alone. Journal of Behavioral Medicine, 38(5), 740–753. https://doi.org/10.1007/s10865-015-9648-z.CrossRefPubMedPubMedCentralGoogle Scholar
- UV Index: Annual Time Series, 2012. (2013) Retrieved from http://www.cpc.ncep.noaa.gov/products/stratosphere/uv_index/uv_annual.shtml.
- Wu, Y. P., Aspinwall, L. G., Michaelis, T. C., Stump, T., Kohlmann, W. G., & Leachman, S. A. (2016a). Discussion of photoprotection, screening, and risk behaviors with children and grandchildren after melanoma genetic testing. Journal of Community Genetics, 7(1), 21–31. https://doi.org/10.1007/s12687-015-0243-3.CrossRefPubMedGoogle Scholar
- Wu, Y. P., Aspinwall, L. G., Nagelhout, E., Kohlmann, W., Kaphingst, K. A., Homburger, S., et al. (2016b). Development of an educational program integrating concepts of genetic risk and preventive strategies for children with a family history of melanoma. Journal of Cancer Education. https://doi.org/10.1007/s13187-016-1144-9.