Abstract
Familial adenomatous polyposis (FAP) is the second most common hereditary colorectal cancer syndrome and confers a nearly 100% lifetime risk of developing colorectal cancer. Understanding factors that facilitate and inhibit genetic testing and cancer surveillance in children who are members of families affected by FAP will better equip clinicians to clarify misunderstandings and facilitate appropriate care. The aims of this study were to examine parental attitudes and beliefs regarding endoscopic surveillance and genetic testing in minors at risk for developing FAP. This cross-sectional study includes analyses of qualitative and quantitative interview data collected from parents of children with or at risk for FAP. This report includes data from 28 parents with a total of 51 biological children between 10–17 years of age. The parents had a clinical and/or genetic diagnosis of FAP. Most commonly reported facilitators included provider recommendation (surveillance) and personalized medical management (genetic testing). Most commonly reported barriers included lack of provider recommendation (surveillance) and cost (genetic testing).
Similar content being viewed by others
References
Ajzen, I. (1991). The theory of planned behavior. Organizational Behavior and Human Decision Processes, 50(2), 179–211.
Al-Sukhni, W., Aronson, M., & Gallinger, S. (2008). Hereditary colorectal cancer syndromes: familial adenomatous Polyposis and Lynch syndrome. Surgical Clinics of North America, 88, 819–844.
American Academy of Pediatrics Committee on Bioethics. (2001). Ethical issues with genetic testing in pediatrics. Pediatrics, 107(6), 1451–1455.
American Society of Clinical Oncology. (2003). American society of clinical oncology policy statement update: genetic testing for cancer susceptibility. Journal of Clinical Oncology, 21(12), 2397–2406.
American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. (1995). Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Journal of Human Genetics, 57(5), 1233–1241.
Augustyn, A. W., & Wallerstein, R. (2009). The role of pediatricians in families with a history of familial adenomatous polyposis. Clinical Pediatrics, 48(6), 623–626.
Baty, B. J., Dudley, W. N., Musters, A., & Kinney, A. Y. (2006). Uncertainty in BRCA1 cancer susceptibility testing. American Journal of Medical Genetics Part C, 142C(4), 241–250.
Bisgaard, M. L., Fenger, K., Bülow, S., Niebuhr, E., & Mohr, J. (1994). Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Human Mutation, 3(2), 121–125.
Borry, P., Stultiëens, L., Nys, H., & Dierickx, K. (2007). Attitudes towards predictive genetic testing in minors for familial breast cancer: a systematic review. Oncology Hematology, 64(3), 173–181.
Burt, R. W., & Jasperson, K. W. (2008). APC- Associated Polyposis Conditions. GeneReviews, 1–31. Retrieved from https://doi.org/www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fap.
Codori, A. M., Petersen, G. M., Miglioretti, D. L., Larkin, E. K., Bushey, M. T., Young, C., et al. (1999). Attitudes toward colon cancer gene testing: factors predicting test uptake. Cancer Epidemiology Biomarkers and Prevention, 8(4 Pt2), 345–351.
Croner, R. S., Brueckl, W. M., Reingruber, B., Hohenberger, W., & Guenther, K. (2005). Age and manifestation related symptoms in familial adenomatous polyposis. BioMed Central Cancer, 5, 24.
Douma, K. F., Aaronson, N. K., Vasen, H. F., & Bleiker, E. M. (2008). Psychosocial issues in genetic testing for familial adenomatous polyposis: a review of the literature. Psycho-Oncology, 17(8), 737–745.
Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2008). “You’re one of us now”: young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP). American Journal of Medical Genetics Part C, 148C(1), 47–55.
Fanos, J. H. (1997). Developmental tasks of childhood and adolescence: implications for genetic testing. American Journal of Medical Genetics, 71(1), 22–28.
Fearnhead, N. S., Britton, M. P., & Bodmer, W. F. (2001). The ABC of APC. Human Molecular Genetics, 10(7), 721–733.
Gennarelli, M., Jandorf, L., Cromwell, C., Valdimarsdottir, H., Redd, W., & Itzkowitz, S. (2005). Barriers to colorectal cancer screening: inadequate knowledge by physicians. The Mount Sinai Journal of Medicine, 72(1), 36–44.
Gooding, H. C., Organista, K., Burack, J., & Biesecker, B. B. (2006). Genetic susceptibility testing from a stress and coping perspective. Social Science and Medicine, 62(8), 1880–1890.
Gryfe, R. (2006). Clinical implications of our advancing knowledge of colorectal cancer genetics: inherited syndromes, prognosis, prevention, screening and therapeutics. Surgical Clinics of North America, 86(4), 787–817.
Hall, M. A., & Rich, S. S. (2000). Patients’ fear of genetic discrimination by health insurers: the impact of legal protections. Genetics in Medicine, 2(4), 214–221.
Janz, N. K., Lakhani, I., Vijan, S., Hawley, S. T., Chung, L. K., & Katz, S. J. (2007). Determinants of colorectal cancer screening use, attempts, and non-use. Preventive Medicine, 44(5), 452–458.
Kastrinos, F., Stoffel, E. M., Balmaña, J., & Syngal, S. (2007). Attitudes toward prenatal genetic testing in patients with familial adenomatous polyposis. American Journal of Gastroenterology, 102(6), 1284–1290.
Khoury, M. J., Gwinn, M., Burke, W., Bowen, S., & Zimmern, R. (2007). Will genomics widen or help the schism between medicine and public health? American Journal of Preventive Medicine, 33(4), 310–317.
Kinney, A. Y., Hicken, B., Simonsen, S. E., Venne, V., Lowstuter, K., Balzotti, J., et al. (2007). Colorectal cancer surveillance behaviors among members of typical and attenuated FAP families. American Journal of Gastroenterology, 102(1), 153–162.
Kinzler, K. W., Nilbert, M. C., Su, L. K., Vogelstein, B., Bryan, T. M., Levy, D. B., et al. (1991). Identification of FAP locus genes from chromosome 5q21. Science, 253(5020), 661–665.
Krippendorff, K. (1980). Content analysis: an introduction to its methodology. Beverly Hills: Sage.
Landis, J. R., & Koch, G. G. (1977). The measurement of observer agreement for categorial data. Biometrics, 33(1), 159–174.
Li, F. P., Garber, J. E., Friend, S. H., Strong, L. C., Patenaude, A. F., Juengst, E. T., et al. (1992). Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. Journal of the National Cancer Institute, 84(15), 1156–1160.
Michie, S., McDonald, V., Bobrow, M., McKeown, C., & Marteau, T. (1996). Parents’ responses to predictive genetic testing in their children: report of a single case study. Journal of Medical Genetics, 33(4), 313–318.
Michie, S., Bobrow, M., & Marteau, T. M. (2001). Predictive genetic testing in children and adults: a study of emotional impact. Journal of Medical Genetics, 38(8), 519–526.
Michie, S., Smith, J. A., Senior, V., & Marteau, T. M. (2003). Understanding why negative genetic test results sometimes fail to reassure. American Journal of Medical Genetics A, 119A(3), 340–347.
Miles, M. B., & Huberman, A. M. (1994). An expanded sourcebook: qualitative data analysis (2nd ed.). Thousand Oaks: Sage.
Mills, S. J., Chapman, P. D., Burn, J., & Gunn, A. (1997). Endoscopic screening and surgery for familial adenomatous polyposis: dangerous delays. British Journal of Surgery, 84(1), 74–77.
National Comprehensive Cancer Network Colorectal Screening Panel (2003). Colorectal cancer screening clinical practice guidelines in oncology. Journal of the National Comprehensive Cancer Network, 1(1), 72.
National Comprehensive Cancer Network Colorectal Screening Panel (2009). Hereditary Syndromes: Familial Adenomatous Polyposis Syndromes. NCCN Practice Guidelines in Oncology: Colorectal Cancer Screening, v.1.2009. Retrieved from https://doi.org/www.nccn.org/professionals/physician_gls/PDF/colorectal_screening.pdf.
Nichols, C., Holt, C. L., Shipp, M., Eloubeide, M., Fouad, M. N., & Britt, K. (2009). Physician knowledge, perceptions of barriers, and patient colorectal cancer screening practices. American Journal of Medical Quality, 24(2), 116–122.
Nishisho, I., Nakamura, Y., Miyoshi, Y., Miki, Y., Ando, H., Horii, A., et al. (1991). Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science, 253(5020), 665–669.
Penziner, E., Williams, J. K., Erwin, C., Bombard, Y., Wallis, A., Beglinger, L. J., et al. (2008). Perceptions of discrimination among persons who have undergone predictive testing for Huntington’s disease. American Journal of Medical Genetics Part B, 147(3), 320–325.
Petersen, G. M., Slack, J., & Nakamura, Y. (1991). Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage. Gastroenterology, 100(6), 1658–1664.
Price, A. S. (2003). Primary and secondary prevention of colorectal cancer. Gastroenterology Nursing, 26(2), 73–81.
Rawl, S. M., Menon, U., & Champion, V. (2002). Colorectal cancer screening: an overview of current trends. The Nursing Clinics of North America, 37(2), 225–245.
Rosenstock, I. M., Strecher, V. J., & Becker, M. H. (1988). Social learning theory and the Health Belief Model. Health Education Quarterly, 15(2), 175–183.
Sweet, K. M., Willis, S. K., Ashida, S., & Westman, J. A. (2003). Use of fear-appeal techniques in the design of tailored cancer risk communication messages: implications for healthcare providers. Journal of Clinical Oncology, 21(17), 3375–3376.
Viera, A. J., & Garrett, J. M. (2005). Understanding interobserver agreement: the kappa statistic. Family Medicine, 37(5), 360–363.
Winawer, S., Fletcher, R., Rex, D., Bond, J., Burt, R., Ferrucci, J., et al. (2003). American Gastroenterological Association colorectal cancer screening and surveillance: clinical guidelines and rationale-update based on new evidence. Gastroenterology, 124, 544–560.
Acknowledgements
This project was funded by a career development award (K07CA82121) and a University of Utah seed grant awarded to Dr. Kinney, as well as two National Cancer Institute grants awarded to Dr. Burt (R01-CA40641 and P01-CA73992) and a Cancer Center Support Grant (5P30CA042014). This project was also funded by the University of Utah Graduate Program in Genetic Counseling and the Huntsman Cancer Foundation. We appreciate the work of José Benuzillo for his assistance with the data analysis, and Susan Schulman for her assistance with manuscript preparation.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Levine, F.R., Coxworth, J.E., Stevenson, D.A. et al. Parental Attitudes, Beliefs, and Perceptions about Genetic Testing for FAP and Colorectal Cancer Surveillance in Minors. J Genet Counsel 19, 269–279 (2010). https://doi.org/10.1007/s10897-010-9285-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-010-9285-1