Abstract
Predispositional genetic testing of children for adult-onset health risks is typically only used when prevention and screening measures have utility during childhood. Little is known about how children and their parents may use predispositional risk information, including whether it changes their interactions around risk-reducing prevention and screening behaviors. The current study examined perspectives on family interactions around skin cancer prevention and control practices through 1 year after test reporting and counseling among children who received melanoma predispositional genetic testing and their parents. Eighteen children (50% carriers, 56% male, mean age = 12.4 years) and 11 parents from 11 families participated in semi-structured interviews 1 month and 1 year after receiving the child’s test result. Both parents (73%) and children (50%) reported making changes to family skin cancer prevention and control practices after receiving the test result. Parent- and child-reported discussions about melanoma prevention increased over time (36% parents and 61% children at 1 month, 73% parents and 67% at 1 year). One-quarter (27%) of parents and no children reported having conflicts about sun protection or screening 1 year after test reporting. A majority of parents (63%) reported treating their child differently at the 1-year follow-up, especially among carriers. Predispositional genetic testing for melanoma was associated with reported changes to plans for and discussions about sun protection, and high levels of parent-child collaboration to implement child sun protection. Future work could seek to identify child and parent factors and interactions that predict improved prevention and screening behaviors following pediatric predispositional genetic testing.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Balk SJ (2011) Ultraviolet radiation: a hazard to children and adolescents. Pediatrics 127:e791–e817
Begg CB, Orlow I, Hummer AJ, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Anton-Culver H, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Mitra N, Busam K, From L, Berwick M, Genes Environment and Melanoma Study Group (2005) Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst 97:1507–1515
Berg CA, Butner JE, Butler JM, King PS, Hughes AE, Wiebe DJ (2013) Parental persuasive strategies in the face of daily problems in adolescent type 1 diabetes management. Health Psychol 32:719–728
Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA, Melanoma Genetics Consortium (2002) Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 94:894–903
Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, Holm IA, Levy HP, Ormond KE, Saal HM, Spinner NB, Wilfond BS, McInerney J (2015) Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 97:6–21. https://doi.org/10.1016/j.ajhg.2015.05.022
Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ (2001) CONSENSUS: guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671. https://doi.org/10.1210/jcem.86.12.8070
Harris JN, Hay J, Kuniyuki A, Asgari MM, Press N, Bowen DJ (2010) Using a family systems approach to investigate cancer risk communication within melanoma families. Psychooncology 19:1102–1111. https://doi.org/10.1002/pon.1667
Helgadottir H, Olsson H, Tucker MA, Yang XR, Hoiom V, Goldstein AM (2017) Phenocopies in melanoma-prone families with germ-line CDKN2A mutations. Genet Med 20:1087–1090. https://doi.org/10.1038/gim.2017.216
Järvinen O, Hietala M, Aalto AM, Arvio M, Uutela A, Aula P, Kääriäinen H (2000a) A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: Aspartylglucosaminuria. Clin Genet 58:447–454. https://doi.org/10.1034/j.1399-0004.2000.580604.x
Järvinen O, Lehesjoki AE, Lindlof M, Uutela A, Kaariainen H (2000b) Carrier testing of children for two X-linked diseases: a retrospective study of comprehension of the test results and social and psychological significance of the testing. Pediatrics 106:1460–1465. https://doi.org/10.1542/peds.106.6.1460
Leoz ML, Carballal S, Moreira L, Ocana T, Balaguer F (2015) The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management. Appl Clin Genet 8:95–107. https://doi.org/10.2147/tacg.s51484
Rao A, Rothman J, Nichols KE (2008) Genetic testing and tumor surveillance for children with cancer predisposition syndromes. Curr Opin Pediatr 20:1–7. https://doi.org/10.1097/MOP.0b013e3282f4249a
Ross LF, Saal HM, David KL, Anderson RR (2013) Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med 15:234–245. https://doi.org/10.1038/gim.2012.176
Stump TK, Aspinwall LG, Kohlmann W, Champine M, Hauglid J, Wu YP, Scott E, Cassidy P, Leachman SA (2018) Genetic test reporting and counseling for melanoma risk in minors may improve sun protection without inducing distress. J Genet Couns 27:955–967. https://doi.org/10.1007/s10897-017-0185-5
Wade CH, Wilfond BS, McBride CM (2010) Effects of genetic risk information on children’s psychosocial wellbeing: a systematic review of the literature. Genet Med 12:317–326. https://doi.org/10.1097/GIM.0b013e3181de695c
Wakefield CE, Hanlon LV, Tucker KM, Patenaude AF, Signorelli C, McLoone JK, Cohn RJ (2016) The psychological impact of genetic information on children: a systematic review. Genet Med 18:755–762. https://doi.org/10.1038/gim.2015.181
Williams LH, Shors AR, Barlow WE, Solomon C, White E (2011) Identifying persons at highest risk of melanoma using self-assessed risk factors. J Clin Exp Dermatol Res 2:129. https://doi.org/10.4172/2155-9554.1000129
Wu YP, Aspinwall LG, Conn BM, Stump T, Grahmann B, Leachman SA (2016) A systematic review of interventions to improve adherence to melanoma preventive behaviors for individuals at elevated risk. Prev Med 88:153–167. https://doi.org/10.1016/j.ypmed.2016.04.010
Wu YP et al (in press) A pilot study of a telehealth family-focused melanoma preventive intervention for children with a family history of melanoma. Psychooncology. https://doi.org/10.1002/pon.5232
Funding
This work was supported by the National Institutes of Health (K07 CA196985 to YW, R01 CA158322 to LGA, SAL, PC).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
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.
Yelena Wu, Lisa Aspinwall, Bridget Parsons, Tammy Stump, Katy Nottingham, and Pamela Cassidy declare that they have no conflict of interest.
Ethical approval
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.
Disclaimer
The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Additional information
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Wu, Y.P., Aspinwall, L.G., Parsons, B. et al. Parent and child perspectives on family interactions related to melanoma risk and prevention after CDKN2A/p16 testing of minor children. J Community Genet 11, 321–329 (2020). https://doi.org/10.1007/s12687-020-00453-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12687-020-00453-9