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Journal of Genetic Counseling

, Volume 27, Issue 4, pp 955–967 | Cite as

Genetic Test Reporting and Counseling for Melanoma Risk in Minors May Improve Sun Protection Without Inducing Distress

  • Tammy K. Stump
  • Lisa G. Aspinwall
  • Wendy Kohlmann
  • Marjan Champine
  • Jamie Hauglid
  • Yelena P. Wu
  • Emily Scott
  • Pamela Cassidy
  • Sancy A. Leachman
Original Research

Abstract

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.

Keywords

CDKN2A/p16 Familial melanoma Genetic counseling Children Prevention Sun protection 

Notes

Acknowledgements

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.

Funding

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.

Supplementary material

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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  1. 1.Department of PsychologyUniversity of UtahSalt Lake CityUSA
  2. 2.Huntsman Cancer InstituteSalt Lake CityUSA
  3. 3.Department of DermatologyUniversity of UtahSalt Lake CityUSA
  4. 4.Oregon Health & Science UniversityPortlandUSA
  5. 5.Department of Preventive MedicineNorthwestern UniversityChicagoUSA

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