Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening
Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma. For hepatoblastoma screening, the majority did recommend this in children less than age five years with known APC mutations. An interval of every 3–6 months was most commonly suggested; however, responses extended to screening on a less than annual basis. These results highlight the need for further investigation into why some genetic counselors do not recommend APC testing in young at-risk children and what factors influence views about the ideal age and indication for APC testing. Studies of these issues would help to define the best clinical practice model for genetic testing and hepatoblastoma screening in pediatric patients with FAP.
KeywordsFAP Hepatoblastoma Colon cancer Pediatric genetic counseling
Compliance with Ethical Standards
Conflict of Interest
The authors declare that they have no conflict 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.
This article does not contain any studies with animals performed by any of the authors.
- Aretz, S., Koch, A., Uhlhaas, S., Friedl, W., Propping, P., von Schweinitz, D., & Pietsch, T. (2006). Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? Pediatric Blood & Cancer, 47(6), 811–818.CrossRefGoogle Scholar
- Codori, A. M., Petersen, G. M., Miglioretti, D. L., Larkin, E. K., Bushey, M. T., Young, C., Brensinger, J. D., et al. (1999). Attitudes toward colon cancer gene testing: factors predicting test uptake. Cancer Epidemiology Biomarkers and Prevention, 8(4 Pt 2), 345–351.Google Scholar
- Harvey, J. J., Clark, S. K., Hyer, W., Hadzic, N., Tomlinson, I. P. M., Hinds, R. (2008). Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma. Journal of Pediatric Gastroenterology and Nutrition, 47(5), 675–677.Google Scholar
- 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.CrossRefPubMedPubMedCentralGoogle Scholar
- National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Colorectal .(2015) Version 2. NCCN.org.Google Scholar