Abstract
Li-Fraumeni syndrome (LFS) is a highly penetrant cancer predisposition syndrome that may present with a first cancer before or during adolescence/young adulthood. Families offered LFS genetic testing for their children can inform our understanding of how the unique developmental context of adolescence influences parental perspectives about genetic testing and discussions of cancer risk. In this study, semi-structured interviews were conducted with 46 parents of children at risk for LFS to capture those perspectives. Analysis utilized summary descriptive statistics and inductive qualitative content coding. Most parents (33/46; 72%) expressed beliefs that adolescence influences the importance of LFS testing and/or discussions about genetic risk. Twenty-six parents related this influence to cognitive, physical, and social changes occurring during adolescence. Aspects of adolescence perceived as promoting LFS testing/discussion included developmental appropriateness, risks of cancer in adolescence, need for medical screening decisions, influence on behaviors, transition to adult health care, and reproductive risks. Aspects of adolescence perceived as complicating LFS testing/discussions included potential negative emotional impact, misunderstanding, added burden, and negative impact on self-image or future planning. Parents recognize the complex influence that adolescence has on LFS testing and conversations surrounding results. Further research is needed to understand the actual impact of genetic testing on young people, and how to best support parents and adolescents within the broader context of heritable diseases.
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Abbreviations
- LFS:
-
Li-Fraumeni syndrome
References
Alderfer, M. A., Zelley, K., Lindell, R. B., Novokmet, A., Mai, P. L., Garber, J. E., & Nichols, K. E. (2015). Parent decision-making around the genetic testing of children for germline TP53 mutations. Cancer, 121(2), 286–293. https://doi.org/10.1002/cncr.29027.
Alderfer, M. A., Lindell, R. B., Viadro, C. I., Zelley, K., Valdez, J., Mandrell, B., & Nichols, K. E. (2017). Should genetic testing be offered for children? The perspectives of adolescents and emerging adults in families with Li-Fraumeni syndrome. Journal of Genetic Counseling. https://doi.org/10.1007/s10897-017-0091-x.
American Academy of Pediatrics, American Academy of Family Physicians, & American College of Physicians, Transitions Clinical Report Authoring Group. (2011). Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics, 128(1), 182–200. https://doi.org/10.1542/peds.2011-0969.
American Academy of Pediatrics Committee on Bioethics, Committee on Genetics, & the American College of Medical Genetics and Genomics, Social, Ethical, and Legal Issues Committee. (2013). Ethical and policy issues in genetic testing and screening of children. Pediatrics, 131, 620–622. https://doi.org/10.1542/peds.2012-3680.
American College of Medical Genetics and Genomics (ACMG) Board of Directors. (2015). ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genetics in Medicine, 17(1), 68–69. https://doi.org/10.1038/gim.2014.151.
Ballinger, M. L., Best, A., Mai, P. L., Khincha, P. P., Loud, J. T., Peters, J. A., & Savage, S. A. (2017). Baseline surveillance in Li-Fraumeni syndrome using whole-body magnetic resonance imaging: a meta-analysis. JAMA Oncology. https://doi.org/10.1001/jamaoncol.2017.1968.
Botkin, J. R., Belmont, J. W., Berg, J. S., Berkman, B. E., Bombard, Y., Holm, I. A., & McInerney, J. D. (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.
Bradbury, A. R., Patrick-Miller, L., Egleston, B. L., Schwartz, L. A., Sands, C. B., Shorter, R., & Daly, M. B. (2012). Knowledge and perceptions of familial and genetic risks for breast cancer risk in adolescent girls. Breast Cancer Research and Treatment, 136(3), 749–757. https://doi.org/10.1007/s10549-012-2254-7.
Burstrom, A., Ojmyr-Joelsson, M., Bratt, E. L., Lundell, B., & Nisell, M., (2016). Adolescents with congenital heart disease and their parents: needs before transfer to adult care. Journal of Cardiovascular Nursing, 31(5), 399–404. https://doi.org/10.1097/jcn.0000000000000288.
Chompret, A., Brugieres, L., Ronsin, M., Gardes, M., Dessarps-Freichey, F., Abel, A., & Feunteun, J. (2000). P53 germline mutations in childhood cancers and cancer risk for carrier individuals. British Journal of Cancer, 82(12), 1932–1937. https://doi.org/10.1054/bjoc.2000.1167.
Clayton, E. W., McCullough, L. B., Biesecker, L. G., Joffe, S., Ross, L. F., & Wolf, S. M. (2014). Addressing the ethical challenges in genetic testing and sequencing of children. The American Journal of Bioethics, 14(3), 3–9. https://doi.org/10.1080/15265161.2013.879945.
Doshi, K., Kazak, A. E., Hocking, M. C., DeRosa, B. W., Schwartz, L. A., Hobbie, W. L., Ginsberg, J. P., & Deatrick, J. (2014). Why mothers accompany adolescents and young adult childhood cancer survivors to follow-up clinic visits. Journal of Pediatric Oncology Nursing, 31(1), 51–57. https://doi.org/10.1177/1043454213518111.
Douma, K. F., Aaronson, N. K., Vasen, H. F., Verhoef, S., Gundy, C. M., & Bleiker, E. M. (2010). Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis. European Journal of Human Genetics, 18(2), 186–193. https://doi.org/10.1038/ejhg.2009.151.
Elo, S., & Kyngas, H. (2008). The qualitative content analysis process. Journal of Advanced Nursing, 62, 107–115.
Fanos, J. H. (1997). Developmental tasks of childhood and adolescence: Implications for genetic testing. American Journal of Medical Genetics, 71(1), 22–28.
Feero, W. G., Guttmacher, A. E., & Collins, F. S. (2010). Genomic medicine—an updated primer. The New England Journal of Medicine, 362(21), 2001–2011. https://doi.org/10.1056/NEJMra0907175.
Green, E. D., & Guyer, M. S. (2011). Charting a course for genomic medicine from base pairs to bedside. Nature, 470(7333), 204–213. https://doi.org/10.1038/nature09764.
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., & the Amercian College of Medical Genetics and Genomics. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine, 15(7), 565–574. https://doi.org/10.1038/gim.2013.73.
Hampel, H., Bennett, R. L., Buchanan, A., Pearlman, R., Wiesner, G. L., Guideline Development Group, & Amercian College of Genetics and Genomics Professional Practice and Guidelines Committee, & Natioanl Society of Genetic Counselors Practice Guidelines Committee. (2015). 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. Genetics in Medicine, 17(1), 70–87. https://doi.org/10.1038/gim.2014.147.
Julian-Reynier, C., Fabre, R., Coupier, I., Stoppa-Lyonnet, D., Lasset, C., Caron, O., & Nogues, C. (2012). BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis. Genetics in Medicine, 14(5), 527–534. https://doi.org/10.1038/gim.2011.27.
Kann, L., Kinchen, S., Shanklin, S. L., Flint, K. H., Kawkins, J., Harris, W. A., & Zaza, S. (2014). Youth risk behavior surveillance—United States, 2013. MMWR Surveillance Summaries, 63(Suppl 4), 1–168.
Kattentidt-Mouravieva, A. A., den Heijer, M., van Kessel, I., & Wagner, A. (2014). How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children: The parents' experience. Familial Cancer, 13(3), 391–399. https://doi.org/10.1007/s10689-014-9724-5.
Klitzman, R. L. (2010). Misunderstandings concerning genetics among patients confronting genetic disease. Journal of Genetic Counseling, 19(5), 430–446. https://doi.org/10.1007/s10897-010-9307-z.
Kratz, C. P., Achatz, M. I., Brugieres, L., Frebourg, T., Garber, J. E., Greer, M. C., & Malkin, D. (2017). Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clinical Cancer Research, 23(11), e38–e45. https://doi.org/10.1158/1078-0432.CCR-17-0408.
Levine, F. R., Coxworth, J. E., Stevenson, D. A., Tuohy, T., Burt, R. W., & Kinney, A. Y. (2010). Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minors. Journal of Genetic Counseling, 19(3), 269–279. https://doi.org/10.1007/s10897-010-9285-1.
Mackenzie, A., Patrick-Miller, L., & Bradbury, A. R. (2009). Controversies in communication of genetic risk for hereditary breast cancer. The Breast Journal, 15(Suppl 1), S25–S32. https://doi.org/10.1111/j.1524-4741.2009.00800.x.
Mai, P. L., Best, A. F., Peters, J. A., DeCastro, R. M., Khincha, P. P., Loud, J. T., & Savage, S. A. (2016). Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort. Cancer, 122(23), 3673–3681. https://doi.org/10.1002/cncr.30248.
Mand, C., Gillam, L., Delatycki, M. B., & Duncan, R. E. (2012). Predictive genetic testing in minors for late-onset conditions: A chronological and analytical review of the ethical arguments. Journal of Medical Ethics, 38(9), 519–524. https://doi.org/10.1136/medethics-2011-100055.
Ormondroyd, E., Donnelly, L., Moynihan, C., Savona, C., Bancroft, E., Evans, D. G., & Watson, M. (2012). Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis. European Journal of Human Genetics, 20(1), 4–10. https://doi.org/10.1038/ejhg.2011.146.
Osterman, M. J., Kochanek, K. D., MacDorman, M. F., Strobino, D. M., & Guyer, B. (2015). Annual summary of vital statistics: 2012–2013. Pediatrics, 135(6), 1115–1125. https://doi.org/10.1542/peds.2015-0434.
Patenaude, A. F., & Schneider, K. A. (2017). Issues arising in psychological consultations to help parents talk to minor and young adult children about their cancer genetic test result: a guide to providers. Journal of Genetic Counseling, 26(2), 251–260. https://doi.org/10.1007/s10897-016-0010-6.
Patenaude, A. F., Tung, N., Ryan, P. D., Ellisen, L. W., Hewitt, L., Schneider, K. A., & Garber, J. E. (2013). Young adult daughters of BRCA1/2 positive mothers: what do they know about hereditary cancer and how much do they worry? Psychooncology, 22(9), 2024–2031. https://doi.org/10.1002/pon.3257.
Peshkin, B. N., Demarco, T. A., & Tercyak, K. P. (2010). On the development of a decision support intervention for mothers undergoing BRCA1/2 cancer genetic testing regarding communicating test results to their children. Familial Cancer, 9(1), 89–97. https://doi.org/10.1007/s10689-009-9267-3.
Peterson, S. K., Pentz, R. D., Blanco, A. M., Ward, P. A., Watts, B. G., Marani, S. K., & Strong, L. C. (2006). Evaluation of a decision aid for families considering p53 genetic counseling and testing. Genetics in Medicine, 8(4), 226–233. https://doi.org/10.109701.gim.0000214632.52958.01
Robson, M. E., Bradbury, A. R., Arun, B., Domchek, S. M., Ford, J. M., Hampel, H. L., Lipkin, S. M., Syngal, S., Wollins, D. S., Lindor, N. M. (2015). American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology, 33(31), 3660–3667. https://doi.org/10.1200/JCO.2015.63.0996.
Ross, L. F., Saal, H. M., David, K. L., Anderson, R. R., & American Academy of Pediatrics & American College of Medical Genetics and Genomics. (2013). Technical report: ethical and policy issues in genetic testing and screening of children. Genetics in Medicine, 15(3), 234–245. https://doi.org/10.1038/gim.2012.176.
Stollon, N., Zhong, Y., Ferris, M., Bhansali, S, Pitts, B., Rak, E., Kelly, M., Kim, S., & van Tilburg, M. A. L. (2017). Chronological age when healthcare transition skills are mastered in adolescents/young adults with inflammatory bowel disease. World Journal of Gastroenterology, 23(18), 3349–3355. https://doi.org/10.3748/wjg.v23.i18.3349.
Taber, J. M., Aspinwall, L. G., Kohlmann, W., Dow, R., & Leachman, S. A. (2010). Parental preferences for CDKN2A/p16 testing of minors. Genetics in Medicine, 12(12), 823–838. https://doi.org/10.1097/GIM.0b013e3181f87278.
Testa, J. R., Malkin, D., & Schiffman, J. D. (2013). Connecting molecular pathways to hereditary cancer risk syndromes. American Society of Clinical Oncology Educational Book, 33, 81–90. https://doi.org/10.1200/EdBook_AM.2013.33.81.
Villani, A., Shore, A., Wasserman, J. D., Stephens, D., Kim, R. H., Druker, H., Gallinger, B., Naumer, A., Kohlmann, W., Novokmet, A., Tabori, U., Tijerin, M., Greer, ML., Finlay, J. L., Schiffman, J. D., Malkin, D. (2016). Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study. The Lancet Oncology, 17(9), 1295–1305. https://doi.org/10.1016/S1470-2045(16)30249-2.
Wade, C. H., Wilfond, B. S., & McBride, C. M. (2010). Effects of genetic risk information on children’s psychosocial wellbeing: a systematic review of the literature. Genetics in Medicine, 12(6), 317–326. https://doi.org/10.1097/GIM.0b013e3181de695c.
Wertz, D. C., Fanos, J. H., & Reilly, P. R. (1994). Genetic testing for children and adolescents. Who decides? JAMA, 272(11), 875–881.
Wilfond, B., & Ross, L. F. (2009). From genetics to genomics: ethics, policy, and parental decision-making. Journal of Pediatric Psychology, 34(6), 639–647. https://doi.org/10.1093/jpepsy/jsn075.
Acknowledgements
We are very grateful to all of the families who participated in this study. This project was facilitated by staff at the Hospital for Sick Children, Toronto, CA; the Dana Farber Cancer Institute, Boston, MA; Huntsman Cancer Institute, Salt Lake City, UT; Stanford University, Stanford, CA; Texas Children’s Hospital, Houston, TX; and the National Institutes of Health, Genetics Branch, Bethesda, MD.
Funding
This work was funded by grants from The University of Pennsylvania Center for the Integration of Genomic Healthcare Technologies (KEN) and the Center for Childhood Cancer Research of The Children’s Hospital of Philadelphia and Alex’s Lemonade Stand Foundation (MAA).
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Corinna L Schultz, Melissa A. Alderfer, Robert B. Lindell, Zachary McClain, Kristin Zelley, Kim E. Nichols, and Carol A. Ford declare that they have no conflict of interest.
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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. Informed consent was obtained from all patients for being included in the study.
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Schultz, C.L., Alderfer, M.A., Lindell, R.B. et al. The Influence of Adolescence on Parents’ Perspectives of Testing and Discussing Inherited Cancer Predisposition. J Genet Counsel 27, 1395–1404 (2018). https://doi.org/10.1007/s10897-018-0267-z
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DOI: https://doi.org/10.1007/s10897-018-0267-z