This study investigated whether genetic counseling and test reporting for the highly penetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure.
A prospective, nonequivalent control group design compared unaffected participants (N = 128, Mage = 35.24, 52% men) from (1) families known to carry a CDKN2A pathogenic variant, who received counseling about management recommendations and a positive or negative genetic test result and (2) no-test control families known not to carry a CDKN2A pathogenic variant, who received equivalent counseling based on their comparable family history. Changes in daily ultraviolet radiation (UVR) exposure (J/m2), skin pigmentation (melanin index), and sunburns between baseline and one year following counseling were compared among carriers (n = 32), noncarriers (n = 46), and no-test control participants (n = 50).
Both carriers and no-test control participants exhibited a decrease one year later in daily UVR dose (B = −0.52, −0.33, p < 0.01). Only carriers exhibited a significant decrease in skin pigmentation at the wrist one year later (B = −0.11, p < 0.001), and both carriers and no-test control participants reported fewer sunburns than noncarriers (p < 0.05). Facial pigmentation did not change for any group. Noncarriers did not change on any measure of UVR exposure.
These findings support the clinical utility of disclosing CDKN2A test results and providing risk management education to high-risk individuals.
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Hamilton JG, Lobel M, Moyer A. Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta-analytic review. Health Psychol. 2009;28:510–518.
Scheuner MT, Sieverding P, Shekelle PG. Delivery of genomic medicine for common chronic adult diseases: a systematic review. JAMA. 2008;299:1320–1334.
Stoffel EM, Mercado RC, Kohlmann W, et al. Prevalence and predictors of appropriate colorectal cancer surveillance in Lynch syndrome. Am J Gastroenterol. 2010;105:1851.
Chai X, Friebel TM, Singer CF, et al. Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2014;148:397–406.
Schwartz MD, Isaacs C, Graves KD, et al. Long term outcomes of BRCA1/BRCA2 testing: risk reduction and surveillance. Cancer. 2012;118:510–517.
Begg CB, Orlow I, Hummer AJ, et al. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst. 2005;97:1507–1515.
Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002;94:894–903.
Taber JM, Aspinwall LG, Kohlmann W, Dow R, Leachman SA. Parental preferences for CDKN2A/p16 testing of minors. Genet Med. 2010;12:823–838.
Kefford RF, Mann GJ. Is there a role for genetic testing in patients with melanoma? Curr Opin Oncol. 2003;15:157–161.
Gerstenblith MR, Goldstein AM, Tucker MA, Fraser MC. Genetic testing for melanoma predisposition: current challenges. Cancer Nurs. 2007;30:454–461.
Bergenmar M, Brandberg Y. Sunbathing and sun protection behaviors and attitudes of young Swedish adults with hereditary risk for malignant melanoma. Cancer Nurs. 2001;24:341–350.
Aspinwall LG, Leaf SL, Kohlmann W, Dola ER, Leachman SA. Patterns of photoprotection following CDKN2A/p16 genetic test reporting and counseling. J Am Acad Dermatol. 2009;60:745–757.
Gandini S, Sera F, Cattaruzza MS, et al. Meta-analysis of risk factors for cutaneous melanoma: II. Sun exposure. Eur J Cancer. 2005;41:45–60.
Frieser MJ, Wilson S, Vrieze S. Behavioral impact of return of genetic test results for complex disease: systematic review and meta-analysis. Health Psychol. 2018;37:1134–1144.
Hollands GJ, French DP, Griffin SJ, et al. The impact of communicating genetic risks of disease on risk-reducing health behaviour: systematic review with meta-analysis. BMJ. 2016;352:i1102.
Glanz K, Volpicelli K, Kanetsky PA, et al. Melanoma genetic testing, counseling, and adherence to skin cancer prevention and detection behaviors. Cancer Epidemiol Biomarkers Prev. 2013;22:607–614.
Aspinwall LG, Taber JM, Kohlmann W, Leaf SL, Leachman SA. Unaffected family members report improvements in daily routine sun protection 2 years following melanoma genetic testing. Genet Med. 2014;16:846–853.
Perna FM, Dwyer LA, Tesauro G, et al. Research on skin cancer-related behaviors and outcomes in the NIH grant portfolio, 2000-2014: Skin Cancer Intervention Across the Cancer Control Continuum (SCI-3C). JAMA Dermatol. 2017;153:398–405.
Kasparian NA, Meiser B, Butow PN, Simpson JM, Mann GJ. Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families. Genet Med. 2009;11:265–278.
Aspinwall LG, Stump TK, Taber JM, et al. Genetic test reporting of CDKN2A provides informational and motivational benefits for managing melanoma risk. Transl Behav Med. 2018;8:29–43.
Taber JM, Aspinwall LG, Stump TK, Kohlmann W, Champine M, Leachman SA. Genetic test reporting enhances understanding of risk information and acceptance of prevention recommendations compared to family history-based counseling alone. J Behav Med. 2015;38:740–753.
Eliason MJ, Larson AA, Florell SR, et al. Population-based prevalence of CDKN2A mutations in Utah melanoma families. J Invest Dermatol. 2006;126:660–666.
Climate Prediction Center. Daily UV index, Salt Lake City, UT, 2011. 2012. http://www.cpc.ncep.noaa.gov/products/stratosphere/uv_index/gif_files/slc_11.png.
Kefford RF, Newton Bishop JA, Bergman W, Tucker MA. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol. 1999;17:3245–3251.
Kefford RF, Salmon J, Shaw HM, Donald JA, McCarthy WH. Hereditary melanoma in Australia. Variable association with dysplastic nevi and absence of genetic linkage to chromosome 1p. Cancer Genet Cytogenet. 1991;51:45–55.
Hansen CB, Wadge LM, Lowstuter K, Boucher K, Leachman SA. Clinical germline genetic testing for melanoma. Lancet Oncol. 2004;5:314–319.
Austin PC. An introduction to propensity score methods for reducing the effects of confounding in observational studies. Multivar Behav Res. 2011;46:399–424.
Allen M, McKenzie R. Enhanced UV exposure on a ski-field compared with exposures at sea level. Photochem Photobiol Sci. 2005;4:429–437.
Liley B, Liley J, Allen M, Robinson J, McKenzie R, Team U-VD. Personal exposures to UV radiation in New Zealand. Queensland, Australia: NIWA UV Workshop; 2010.
Gies P, Glanz K, O’Riordan D, Elliott T, Nehl E. Measured occupational solar UVR exposures of lifeguards in pool settings. Am J Ind Med. 2009;52:645–653.
Tuchin VV. Tissue optics: light scattering methods and instruments for medical diagnosis. Bellingham, WA: SPIE Press; 2007.
Glanz K, Yaroch AL, Dancel M, et al. Measures of sun exposure and sun protection practices for behavioral and epidemiologic research. Arch Dermatol. 2008;144:217–222.
Raudenbush SW, Bryk AS. Hierarchical linear models: applications and data analysis methods. Thousand Oaks, CA: Sage; 2002.
Aspinwall LG, Taber JM, Leaf SL, Kohlmann W, Leachman SA. Genetic testing for hereditary melanoma and pancreatic cancer: a longitudinal study of psychological outcome. Psycho-Oncology. 2013;22:276–289.
Witte K. Putting the fear back into fear appeals—the extended parallel process model. Commun Monogr. 1992;59:329–349.
Cameron LD, Marteau TM, Brown PM, Klein WM, Sherman KA. Communication strategies for enhancing understanding of the behavioral implications of genetic and biomarker tests for disease risk: the role of coherence. J Behav Med. 2012;35:286–298.
Riley BD, Culver JO, Skrzynia C, et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns. 2012;21:151–161.
Hampel H, Bennett RL, Buchanan A, et al. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genet Med. 2015;17:70–87.
Leachman SA, Carucci J, Kohlmann W. et al. Selection criteria for genetic assessment of patients with familial melanoma. J Am Acad Dermatol. 2009;61:677.e1–e14.
Leachman SA, Lucero OM, Sampson JE, et al. Identification, genetic testing, and management of hereditary melanoma. Cancer Metastasis Rev. 2017;36:77–90.
Aspinwall LG, Taber JM, Kohlmann W, Leachman SA. Psychological aspects of hereditary cancer risk counseling and genetic testing. In: Carr BI, Steel J, (eds.) Psychological aspects of cancer. Boston, MA: Springer; 2013. p. 31–64.
Marteau TM, French DP, Griffin SJ, Prevost AT, Sutton S, Watkinson C.et al. Effects of communicating DNA‐based disease risk estimates on risk‐reducing behaviours. Cochrane Database Syst Rev. 2010 Oct 6;10:CD007275.
Sturm RA. Molecular genetics of human pigmentation diversity. Hum Mol Genet. 2009;18:R9–17.
This research was supported by the National Cancer Institute of the National Institutes of Health (R01 CA158322). Support was also received from the National Center for Research Resources and the National Center for Advancing Translational Sciences, National Institutes of Health, through grant 8UL1TR000105 (formerly UL1RR025764). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Cancer Institute or the National Institutes of Health. This research was also supported by the Huntsman Cancer Foundation (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 study also utilized 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 National Institutes of Health through National Cancer Institute Cancer Center Support grant 5P30CA420-14 awarded to the Huntsman Cancer Institute and additional support from the HCF. Partial salary support was also provided by Knight Cancer Institute and Oregon Health & Science University (S.A.L., P.B.C., and T.P.). T.K.S. acknowledges salary support by NIH/NCI training grant T32 CA193193 during the preparation of this manuscript. The authors additionally acknowledge the generous participation of all study participants who made this project possible. We thank also all members of the BRIGHT study staff for their contributions to the conduct or analysis of the study.
S.A.L. previously received an honorarium for her service on a Medical and Scientific Advisory Board for Myriad Genetics Laboratory and Castle Biosciences, Inc. She also collaborated with Myriad to test assays as part of an early access program that is unrelated to the present study. W.K. received a research grant from Myriad Genetics Laboratory to study the psychological and family communication outcomes of multigene panel testing. That project is unrelated to the present study. M.C. has served as a consultant for Invitae, a for-profit genetic information company, which is also unrelated to the study. The other authors declare no conflicts of interest.
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