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Journal of Genetic Counseling

, Volume 26, Issue 3, pp 586–593 | Cite as

Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening

  • Caitlin E. Lawson
  • Thomas M. Attard
  • Hongying Dai
  • Seth Septer
Original Research

Abstract

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.

Keywords

FAP Hepatoblastoma Colon cancer Pediatric genetic counseling 

Notes

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.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

Supplementary material

10897_2016_30_MOESM1_ESM.docx (209 kb)
ESM 1 (DOCX 209 kb)

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Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Caitlin E. Lawson
    • 1
  • Thomas M. Attard
    • 1
  • Hongying Dai
    • 1
  • Seth Septer
    • 2
  1. 1.Children’s Mercy Hospital/University of Missouri-Kansas City School of MedicineKansas CityUSA
  2. 2.Children’s Hospital ColoradoAuroraUSA

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